id category name Orphanet:58 biolink:Disease Alexander disease HP:0000256 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001355 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0100729 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002445 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0100247 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002410 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0007481 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:61 biolink:Disease Alpha-mannosidosis HP:0000158 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004493 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008821 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0100240 biolink:PhenotypicFeature Orphanet:93 biolink:Disease Aspartylglucosaminuria HP:0000023 biolink:PhenotypicFeature HP:0000053 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002684 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0004337 biolink:PhenotypicFeature HP:0004568 biolink:PhenotypicFeature HP:0008430 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0011276 biolink:PhenotypicFeature HP:0012068 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0100729 biolink:PhenotypicFeature Orphanet:585 biolink:Disease Multiple sulfatase deficiency HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0003134 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007307 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008155 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature Orphanet:118 biolink:Disease Beta-mannosidosis HP:0000365 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0005247 biolink:PhenotypicFeature Orphanet:141 biolink:Disease Canavan disease HP:0000256 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:213 biolink:Disease Cystinosis HP:0000093 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000124 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002148 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0009806 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0002748 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature Orphanet:349 biolink:Disease Fucosidosis HP:0000164 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000943 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001063 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0005264 biolink:PhenotypicFeature HP:0005595 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008155 biolink:PhenotypicFeature HP:0008430 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011276 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature Orphanet:366 biolink:Disease Glycogen storage disease due to glycogen debranching enzyme deficiency HP:0000293 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:371 biolink:Disease Glycogen storage disease due to muscle phosphofructokinase deficiency HP:0001324 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0002486 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0009051 biolink:PhenotypicFeature Orphanet:583 biolink:Disease Mucopolysaccharidosis type 6 HP:0000158 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000885 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002656 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003300 biolink:PhenotypicFeature HP:0003521 biolink:PhenotypicFeature HP:0007759 biolink:PhenotypicFeature HP:0008155 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:812 biolink:Disease Sialidosis type 1 HP:0000179 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000943 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0003461 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0010729 biolink:PhenotypicFeature HP:0011276 biolink:PhenotypicFeature HP:0012061 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:578 biolink:Disease Mucolipidosis type IV HP:0000232 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002816 biolink:PhenotypicFeature HP:0004345 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0005105 biolink:PhenotypicFeature HP:0007281 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0010318 biolink:PhenotypicFeature HP:0011020 biolink:PhenotypicFeature Orphanet:577 biolink:Disease Mucolipidosis type III HP:0000023 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001646 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0004493 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008818 biolink:PhenotypicFeature HP:0008821 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:796 biolink:Disease Sandhoff disease HP:0000256 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002333 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0004343 biolink:PhenotypicFeature HP:0007272 biolink:PhenotypicFeature HP:0010729 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:584 biolink:Disease Mucopolysaccharidosis type 7 HP:0000023 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0002103 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0004607 biolink:PhenotypicFeature HP:0005019 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008155 biolink:PhenotypicFeature HP:0008430 biolink:PhenotypicFeature HP:0010655 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature HP:0100625 biolink:PhenotypicFeature Orphanet:461 biolink:Disease Recessive X-linked ichthyosis HP:0000028 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007759 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature Orphanet:881 biolink:Disease Turner syndrome HP:0000137 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0000879 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0003492 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0006709 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0008222 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0012774 biolink:PhenotypicFeature HP:0040073 biolink:PhenotypicFeature HP:0100625 biolink:PhenotypicFeature HP:0100805 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000475 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000758 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000833 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0000914 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0005113 biolink:PhenotypicFeature HP:0005689 biolink:PhenotypicFeature HP:0006438 biolink:PhenotypicFeature HP:0006456 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0009759 biolink:PhenotypicFeature HP:0010044 biolink:PhenotypicFeature HP:0010047 biolink:PhenotypicFeature HP:0010510 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000086 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000476 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001812 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002608 biolink:PhenotypicFeature HP:0002611 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003067 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0003764 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0005603 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008356 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0009118 biolink:PhenotypicFeature HP:0011307 biolink:PhenotypicFeature HP:0012434 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature HP:0000150 biolink:PhenotypicFeature HP:0000471 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0002037 biolink:PhenotypicFeature HP:0002613 biolink:PhenotypicFeature HP:0002647 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0004386 biolink:PhenotypicFeature HP:0005294 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature Orphanet:848 biolink:Disease Beta-thalassemia HP:0000924 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001935 biolink:PhenotypicFeature HP:0011902 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0004370 biolink:PhenotypicFeature HP:0011031 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:262 biolink:Disease Duchenne and Becker muscular dystrophy HP:0001256 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003100 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature Orphanet:586 biolink:Disease Cystic fibrosis HP:0001738 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0006536 biolink:PhenotypicFeature HP:0012236 biolink:PhenotypicFeature HP:0012873 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002035 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002570 biolink:PhenotypicFeature HP:0002724 biolink:PhenotypicFeature HP:0002726 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0004401 biolink:PhenotypicFeature HP:0005376 biolink:PhenotypicFeature HP:0032342 biolink:PhenotypicFeature HP:0045082 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature HP:0002842 biolink:PhenotypicFeature HP:0032261 biolink:PhenotypicFeature HP:0100582 biolink:PhenotypicFeature Orphanet:846 biolink:Disease Alpha-thalassemia HP:0000952 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001935 biolink:PhenotypicFeature HP:0001971 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0011902 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:269 biolink:Disease Facioscapulohumeral dystrophy HP:0000298 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0008046 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature Orphanet:261 biolink:Disease Emery-Dreifuss muscular dystrophy HP:0001513 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001678 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002486 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0006785 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001771 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003141 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0003805 biolink:PhenotypicFeature HP:0004631 biolink:PhenotypicFeature HP:0008948 biolink:PhenotypicFeature HP:0008956 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0011807 biolink:PhenotypicFeature HP:0030117 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0005115 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0001605 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0005155 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:480 biolink:Disease Kearns-Sayre syndrome HP:0000365 biolink:PhenotypicFeature HP:0000590 biolink:PhenotypicFeature HP:0000830 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001709 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003200 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0004622 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature Orphanet:614 biolink:Disease Thomsen and Becker disease HP:0002486 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature Orphanet:551 biolink:Disease MERRF HP:0000407 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001012 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003200 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:597 biolink:Disease Central core disease HP:0001252 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002047 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0003749 biolink:PhenotypicFeature HP:0003803 biolink:PhenotypicFeature HP:0030230 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0002483 biolink:PhenotypicFeature HP:0003798 biolink:PhenotypicFeature HP:0040081 biolink:PhenotypicFeature HP:0001989 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0040191 biolink:PhenotypicFeature Orphanet:324 biolink:Disease Fabry disease HP:0000083 biolink:PhenotypicFeature HP:0000091 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000524 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001014 biolink:PhenotypicFeature HP:0001131 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001637 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001646 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001678 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002571 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0003119 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004306 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0006510 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011710 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100579 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature Orphanet:558 biolink:Disease Marfan syndrome HP:0000768 biolink:PhenotypicFeature HP:0001065 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0001533 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002108 biolink:PhenotypicFeature HP:0005111 biolink:PhenotypicFeature HP:0012432 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001083 biolink:PhenotypicFeature HP:0001132 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0003179 biolink:PhenotypicFeature HP:0005059 biolink:PhenotypicFeature HP:0007800 biolink:PhenotypicFeature HP:0012019 biolink:PhenotypicFeature HP:0012369 biolink:PhenotypicFeature HP:0100775 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0002636 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002996 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003302 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0004382 biolink:PhenotypicFeature HP:0004927 biolink:PhenotypicFeature HP:0004933 biolink:PhenotypicFeature HP:0005294 biolink:PhenotypicFeature HP:0006687 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007676 biolink:PhenotypicFeature HP:0007720 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0012499 biolink:PhenotypicFeature Orphanet:100 biolink:Disease Ataxia-telangiectasia HP:0000035 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002715 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003220 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005374 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0010515 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100579 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature Orphanet:870 biolink:Disease Down syndrome HP:0000144 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000235 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0006733 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0010808 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100763 biolink:PhenotypicFeature HP:0100830 biolink:PhenotypicFeature Orphanet:138 biolink:Disease CHARGE syndrome HP:0000028 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000359 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000458 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001291 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009906 biolink:PhenotypicFeature HP:0011382 biolink:PhenotypicFeature HP:0000008 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000066 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000830 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001646 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005113 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0010751 biolink:PhenotypicFeature HP:0011611 biolink:PhenotypicFeature HP:0100736 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000625 biolink:PhenotypicFeature HP:0000632 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000834 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002410 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004348 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0010443 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature Orphanet:534 biolink:Disease Oculocerebrorenal syndrome of Lowe HP:0000023 biolink:PhenotypicFeature HP:0000027 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000091 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000230 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000557 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000615 biolink:PhenotypicFeature HP:0000632 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000679 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000704 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000843 biolink:PhenotypicFeature HP:0000859 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002049 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002148 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002749 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007513 biolink:PhenotypicFeature HP:0007731 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0010471 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0011527 biolink:PhenotypicFeature HP:0100493 biolink:PhenotypicFeature HP:0100512 biolink:PhenotypicFeature HP:0100530 biolink:PhenotypicFeature HP:0100589 biolink:PhenotypicFeature HP:0100612 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature HP:0100825 biolink:PhenotypicFeature HP:0100835 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:790 biolink:Disease Retinoblastoma HP:0009919 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000555 biolink:PhenotypicFeature HP:0031615 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0001100 biolink:PhenotypicFeature HP:0001909 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002669 biolink:PhenotypicFeature HP:0002859 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0007862 biolink:PhenotypicFeature HP:0007902 biolink:PhenotypicFeature HP:0011886 biolink:PhenotypicFeature HP:0012372 biolink:PhenotypicFeature HP:0025244 biolink:PhenotypicFeature HP:0025337 biolink:PhenotypicFeature HP:0100243 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0009733 biolink:PhenotypicFeature HP:0012254 biolink:PhenotypicFeature HP:0030408 biolink:PhenotypicFeature Orphanet:908 biolink:Disease Fragile X syndrome HP:0000053 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002003 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0003564 biolink:PhenotypicFeature HP:0005111 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:579 biolink:Disease Mucopolysaccharidosis type 1 HP:0000023 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001646 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0005105 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008155 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100261 biolink:PhenotypicFeature HP:0100625 biolink:PhenotypicFeature HP:0100765 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:567 biolink:Disease 22q11.2 deletion syndrome HP:0000076 biolink:PhenotypicFeature HP:0000113 biolink:PhenotypicFeature HP:0000130 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000385 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000627 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000778 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001136 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001281 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001641 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001646 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000262 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000600 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000829 biolink:PhenotypicFeature HP:0000836 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001051 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001660 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001829 biolink:PhenotypicFeature HP:0001872 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002139 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0002619 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002691 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005435 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006510 biolink:PhenotypicFeature HP:0006525 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007271 biolink:PhenotypicFeature HP:0007302 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0011324 biolink:PhenotypicFeature HP:0011496 biolink:PhenotypicFeature HP:0011662 biolink:PhenotypicFeature HP:0012303 biolink:PhenotypicFeature HP:0012732 biolink:PhenotypicFeature HP:0100735 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature HP:0100765 biolink:PhenotypicFeature Orphanet:904 biolink:Disease Williams syndrome HP:0000010 biolink:PhenotypicFeature HP:0000014 biolink:PhenotypicFeature HP:0000015 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000025 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000075 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000125 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000464 biolink:PhenotypicFeature HP:0000485 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000627 biolink:PhenotypicFeature HP:0000632 biolink:PhenotypicFeature HP:0000635 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001052 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001136 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001361 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0001969 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002035 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002183 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002253 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0002623 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0003028 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0003119 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004295 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0004306 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004381 biolink:PhenotypicFeature HP:0004398 biolink:PhenotypicFeature HP:0004428 biolink:PhenotypicFeature HP:0004969 biolink:PhenotypicFeature HP:0005113 biolink:PhenotypicFeature HP:0005344 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007372 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0007720 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008053 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature HP:0008661 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010526 biolink:PhenotypicFeature HP:0010662 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0010780 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0010880 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0012639 biolink:PhenotypicFeature HP:0100025 biolink:PhenotypicFeature HP:0100240 biolink:PhenotypicFeature HP:0100539 biolink:PhenotypicFeature HP:0100545 biolink:PhenotypicFeature HP:0100613 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0100817 biolink:PhenotypicFeature HP:0200021 biolink:PhenotypicFeature Orphanet:280 biolink:Disease Wolf-Hirschhorn syndrome HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000078 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000153 biolink:PhenotypicFeature HP:0000159 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000288 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000485 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000647 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000902 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001362 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002144 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002715 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003363 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0005264 biolink:PhenotypicFeature HP:0006655 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0006709 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007385 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008830 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0009890 biolink:PhenotypicFeature HP:0010109 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:96 biolink:Disease Ataxia with vitamin E deficiency HP:0000505 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature Orphanet:3099 biolink:Disease Rheumatic fever HP:0000100 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0001646 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002103 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0010318 biolink:PhenotypicFeature HP:0010522 biolink:PhenotypicFeature HP:0010526 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0100248 biolink:PhenotypicFeature HP:0100584 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100776 biolink:PhenotypicFeature Orphanet:47 biolink:Disease X-linked agammaglobulinemia HP:0000162 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004432 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0100763 biolink:PhenotypicFeature HP:0100765 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0100838 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:906 biolink:Disease Wiskott-Aldrich syndrome HP:0000112 biolink:PhenotypicFeature HP:0000140 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000498 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000778 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0001879 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001935 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002037 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002248 biolink:PhenotypicFeature HP:0002488 biolink:PhenotypicFeature HP:0002573 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003010 biolink:PhenotypicFeature HP:0005558 biolink:PhenotypicFeature HP:0006510 biolink:PhenotypicFeature HP:0006535 biolink:PhenotypicFeature HP:0007420 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011029 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011869 biolink:PhenotypicFeature HP:0011875 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100774 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:436 biolink:Disease Hypophosphatasia HP:0000164 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001024 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010781 biolink:PhenotypicFeature Orphanet:2182 biolink:Disease Hydrocephalus with stenosis of the aqueduct of Sylvius HP:0000238 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001331 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002410 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:664 biolink:Disease Ornithine transcarbamylase deficiency HP:0001399 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature Orphanet:481 biolink:Disease Kennedy disease HP:0000029 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0003119 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100639 biolink:PhenotypicFeature Orphanet:783 biolink:Disease Rubinstein-Taybi syndrome HP:0000028 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000579 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005306 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009832 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0010562 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0100760 biolink:PhenotypicFeature Orphanet:792 biolink:Disease X-linked retinoschisis HP:0000478 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0030502 biolink:PhenotypicFeature Orphanet:429 biolink:Disease Hypochondroplasia HP:0000256 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0011405 biolink:PhenotypicFeature Orphanet:181 biolink:Disease X-linked hypohidrotic ectodermal dysplasia HP:0000232 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000830 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010803 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:16 biolink:Disease Blue cone monochromatism HP:0000505 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0001131 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0007939 biolink:PhenotypicFeature Orphanet:636 biolink:Disease Neurofibromatosis type 1 HP:0000028 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0001100 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001480 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003100 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001012 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002858 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0009592 biolink:PhenotypicFeature HP:0009732 biolink:PhenotypicFeature HP:0009737 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001909 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002666 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005506 biolink:PhenotypicFeature HP:0007378 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0009735 biolink:PhenotypicFeature HP:0010786 biolink:PhenotypicFeature HP:0010935 biolink:PhenotypicFeature HP:0011362 biolink:PhenotypicFeature HP:0100242 biolink:PhenotypicFeature HP:0100545 biolink:PhenotypicFeature Orphanet:631 biolink:Disease Non-acquired isolated growth hormone deficiency HP:0000830 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:379 biolink:Disease Chronic granulomatous disease HP:0000230 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001874 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0006510 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0100523 biolink:PhenotypicFeature HP:0100533 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:394 biolink:Disease Classic homocystinuria HP:0000218 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001083 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0001933 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002040 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0004337 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:510 biolink:Disease Lesch-Nyhan syndrome HP:0000083 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001997 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:214 biolink:Disease Cystinuria HP:0000083 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0004337 biolink:PhenotypicFeature Orphanet:281 biolink:Disease Monosomy 5p HP:0000023 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004348 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0200046 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:640 biolink:Disease Hereditary neuropathy with liability to pressure palsies HP:0001265 biolink:PhenotypicFeature HP:0001605 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003431 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature Orphanet:649 biolink:Disease Norrie disease HP:0000028 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000375 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000532 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000615 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000647 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001083 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0004327 biolink:PhenotypicFeature HP:0005293 biolink:PhenotypicFeature HP:0006887 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007676 biolink:PhenotypicFeature HP:0007833 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0007968 biolink:PhenotypicFeature HP:0008046 biolink:PhenotypicFeature HP:0008063 biolink:PhenotypicFeature HP:0010662 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature HP:0100012 biolink:PhenotypicFeature HP:0100639 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0100718 biolink:PhenotypicFeature HP:0100742 biolink:PhenotypicFeature Orphanet:60 biolink:Disease Alpha-1-antitrypsin deficiency HP:0000100 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature Orphanet:682 biolink:Disease Hyperkalemic periodic paralysis HP:0000597 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002047 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0002486 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0003712 biolink:PhenotypicFeature HP:0003752 biolink:PhenotypicFeature HP:0007215 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0100613 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:800 biolink:Disease Schwartz-Jampel syndrome HP:0000023 biolink:PhenotypicFeature HP:0000069 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000205 biolink:PhenotypicFeature HP:0000211 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000600 biolink:PhenotypicFeature HP:0000643 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001083 biolink:PhenotypicFeature HP:0001239 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001557 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0001621 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002047 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002486 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003044 biolink:PhenotypicFeature HP:0003179 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003273 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0003712 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0005830 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007740 biolink:PhenotypicFeature HP:0008056 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009743 biolink:PhenotypicFeature HP:0010508 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0012544 biolink:PhenotypicFeature HP:0100569 biolink:PhenotypicFeature HP:0100612 biolink:PhenotypicFeature HP:0100795 biolink:PhenotypicFeature HP:0100813 biolink:PhenotypicFeature Orphanet:628 biolink:Disease Diastrophic dysplasia HP:0000028 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0008434 biolink:PhenotypicFeature HP:0008921 biolink:PhenotypicFeature HP:0009381 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature HP:0009748 biolink:PhenotypicFeature HP:0009773 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100761 biolink:PhenotypicFeature Orphanet:648 biolink:Disease Noonan syndrome HP:0000028 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000078 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000391 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000476 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001641 biolink:PhenotypicFeature HP:0001743 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004415 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010318 biolink:PhenotypicFeature HP:0011362 biolink:PhenotypicFeature HP:0011381 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0011869 biolink:PhenotypicFeature HP:0100625 biolink:PhenotypicFeature HP:0100763 biolink:PhenotypicFeature Orphanet:377 biolink:Disease Gorlin syndrome HP:0000028 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000464 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0002948 biolink:PhenotypicFeature HP:0004408 biolink:PhenotypicFeature HP:0008422 biolink:PhenotypicFeature HP:0010610 biolink:PhenotypicFeature HP:0010612 biolink:PhenotypicFeature Orphanet:752 biolink:Disease 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency HP:0000028 biolink:PhenotypicFeature HP:0000037 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000795 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature Orphanet:337 biolink:Disease Fibrodysplasia ossificans progressiva HP:0000365 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0010054 biolink:PhenotypicFeature HP:0010058 biolink:PhenotypicFeature HP:0010109 biolink:PhenotypicFeature HP:0011987 biolink:PhenotypicFeature HP:0011989 biolink:PhenotypicFeature HP:0100240 biolink:PhenotypicFeature Orphanet:2869 biolink:Disease Peutz-Jeghers syndrome HP:0000069 biolink:PhenotypicFeature HP:0000366 biolink:PhenotypicFeature HP:0001003 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002035 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002672 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0005244 biolink:PhenotypicFeature HP:0005264 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0005584 biolink:PhenotypicFeature HP:0006725 biolink:PhenotypicFeature HP:0008675 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0012126 biolink:PhenotypicFeature HP:0012720 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0030079 biolink:PhenotypicFeature HP:0100273 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature HP:0100574 biolink:PhenotypicFeature HP:0100582 biolink:PhenotypicFeature HP:0100644 biolink:PhenotypicFeature HP:0100669 biolink:PhenotypicFeature HP:0100743 biolink:PhenotypicFeature HP:0100751 biolink:PhenotypicFeature HP:0100833 biolink:PhenotypicFeature Orphanet:710 biolink:Disease Pfeiffer syndrome HP:0000194 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000262 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0009773 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature Orphanet:912 biolink:Disease Zellweger syndrome HP:0000003 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000057 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000157 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000532 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000627 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001088 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0006829 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008167 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0010655 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0012736 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:893 biolink:Disease WAGR syndrome HP:0000028 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007299 biolink:PhenotypicFeature HP:0008053 biolink:PhenotypicFeature HP:0100627 biolink:PhenotypicFeature Orphanet:895 biolink:Disease Waardenburg syndrome type 2 HP:0000365 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001100 biolink:PhenotypicFeature HP:0002211 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0004414 biolink:PhenotypicFeature Orphanet:896 biolink:Disease Waardenburg syndrome type 3 HP:0000252 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0001063 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0002779 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0010554 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0011364 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature Orphanet:857 biolink:Disease Townes-Brocks syndrome HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000086 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000130 biolink:PhenotypicFeature HP:0000142 biolink:PhenotypicFeature HP:0000143 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001140 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001545 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001641 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001863 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004792 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0009912 biolink:PhenotypicFeature HP:0009944 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0010331 biolink:PhenotypicFeature HP:0010481 biolink:PhenotypicFeature HP:0010760 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature Orphanet:894 biolink:Disease Waardenburg syndrome type 1 HP:0000175 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000632 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001100 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0002211 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0002226 biolink:PhenotypicFeature HP:0002227 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0008527 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0011364 biolink:PhenotypicFeature Orphanet:207 biolink:Disease Crouzon syndrome HP:0000189 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000262 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0005107 biolink:PhenotypicFeature HP:0011324 biolink:PhenotypicFeature HP:0011386 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:201 biolink:Disease Cowden syndrome HP:0000036 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000130 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000221 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature HP:0000853 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001048 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002858 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004390 biolink:PhenotypicFeature HP:0005374 biolink:PhenotypicFeature HP:0005584 biolink:PhenotypicFeature HP:0005595 biolink:PhenotypicFeature HP:0006731 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0008675 biolink:PhenotypicFeature HP:0009720 biolink:PhenotypicFeature HP:0010614 biolink:PhenotypicFeature HP:0012032 biolink:PhenotypicFeature HP:0012062 biolink:PhenotypicFeature HP:0012114 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0012740 biolink:PhenotypicFeature HP:0100006 biolink:PhenotypicFeature HP:0100031 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100579 biolink:PhenotypicFeature HP:0100780 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200063 biolink:PhenotypicFeature Orphanet:205 biolink:Disease Crigler-Najjar syndrome HP:0000365 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:192 biolink:Disease Coffin-Lowry syndrome HP:0000154 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000940 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001500 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0001646 biolink:PhenotypicFeature HP:0001702 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0001812 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002191 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002868 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004493 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006288 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009193 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0100613 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:126 biolink:Disease Blepharophimosis-ptosis-epicanthus inversus syndrome HP:0000286 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0011481 biolink:PhenotypicFeature HP:0100805 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature Orphanet:107 biolink:Disease BOR syndrome HP:0000074 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0011388 biolink:PhenotypicFeature HP:0000003 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000402 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0004452 biolink:PhenotypicFeature HP:0008586 biolink:PhenotypicFeature HP:0009796 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0011481 biolink:PhenotypicFeature Orphanet:774 biolink:Disease Hereditary hemorrhagic telangiectasia HP:0000421 biolink:PhenotypicFeature HP:0001048 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002138 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0007420 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature HP:0100761 biolink:PhenotypicFeature HP:0200008 biolink:PhenotypicFeature HP:0000524 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001082 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001935 biolink:PhenotypicFeature HP:0002040 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0007763 biolink:PhenotypicFeature HP:0011025 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature HP:0100579 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100784 biolink:PhenotypicFeature Orphanet:794 biolink:Disease Saethre-Chotzen syndrome HP:0000028 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0011386 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000643 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0005037 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0009899 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature Orphanet:116 biolink:Disease Beckwith-Wiedemann syndrome HP:0000098 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0000105 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000363 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001052 biolink:PhenotypicFeature HP:0001139 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001528 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001738 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001998 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0003271 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0006267 biolink:PhenotypicFeature HP:0008523 biolink:PhenotypicFeature HP:0009908 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0030720 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature HP:0100876 biolink:PhenotypicFeature HP:0430026 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000073 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000150 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000329 biolink:PhenotypicFeature HP:0000362 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001540 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001901 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature HP:0002859 biolink:PhenotypicFeature HP:0002884 biolink:PhenotypicFeature HP:0003006 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0006254 biolink:PhenotypicFeature HP:0006744 biolink:PhenotypicFeature HP:0008186 biolink:PhenotypicFeature HP:0008676 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0012090 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0030255 biolink:PhenotypicFeature HP:0100243 biolink:PhenotypicFeature HP:0100589 biolink:PhenotypicFeature HP:0000852 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature Orphanet:112 biolink:Disease Bartter syndrome HP:0001939 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:53 biolink:Disease Albers-Schönberg osteopetrosis HP:0000164 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001881 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005789 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007626 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature Orphanet:50 biolink:Disease Aicardi syndrome HP:0000175 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000588 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000892 biolink:PhenotypicFeature HP:0000902 biolink:PhenotypicFeature HP:0000921 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001012 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001338 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002036 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002884 biolink:PhenotypicFeature HP:0003305 biolink:PhenotypicFeature HP:0003316 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0005338 biolink:PhenotypicFeature HP:0005815 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010759 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0200008 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:52 biolink:Disease Alagille syndrome HP:0000028 biolink:PhenotypicFeature HP:0000069 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000563 biolink:PhenotypicFeature HP:0000615 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001131 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0003189 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004617 biolink:PhenotypicFeature HP:0004969 biolink:PhenotypicFeature HP:0006571 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature Orphanet:14 biolink:Disease Abetalipoproteinemia HP:0000707 biolink:PhenotypicFeature HP:0001927 biolink:PhenotypicFeature HP:0002570 biolink:PhenotypicFeature HP:0002630 biolink:PhenotypicFeature HP:0025201 biolink:PhenotypicFeature HP:0100513 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000551 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001923 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003146 biolink:PhenotypicFeature HP:0003233 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003563 biolink:PhenotypicFeature HP:0004905 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0012153 biolink:PhenotypicFeature HP:0100512 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000575 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002403 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0006858 biolink:PhenotypicFeature HP:0007894 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature HP:0025022 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0012804 biolink:PhenotypicFeature Orphanet:195 biolink:Disease Cat-eye syndrome HP:0000078 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0100542 biolink:PhenotypicFeature Orphanet:289 biolink:Disease Ellis Van Creveld syndrome HP:0000008 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000039 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000069 biolink:PhenotypicFeature HP:0000072 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000190 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001241 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001651 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001696 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0001829 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0002488 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0005561 biolink:PhenotypicFeature HP:0006695 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0008921 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0011065 biolink:PhenotypicFeature HP:0011362 biolink:PhenotypicFeature HP:0011830 biolink:PhenotypicFeature Orphanet:474 biolink:Disease Jeune syndrome HP:0000083 biolink:PhenotypicFeature HP:0000090 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000766 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001830 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature Orphanet:861 biolink:Disease Treacher-Collins syndrome HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000143 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000162 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000370 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000561 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000625 biolink:PhenotypicFeature HP:0000643 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000778 biolink:PhenotypicFeature HP:0000834 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002006 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0004348 biolink:PhenotypicFeature HP:0005701 biolink:PhenotypicFeature HP:0005990 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009795 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0011219 biolink:PhenotypicFeature HP:0011386 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature Orphanet:199 biolink:Disease Cornelia de Lange syndrome HP:0000003 biolink:PhenotypicFeature HP:0000059 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000130 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000498 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000667 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001557 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002557 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002580 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0007665 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0008850 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010034 biolink:PhenotypicFeature HP:0010300 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0010880 biolink:PhenotypicFeature HP:0012165 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:2162 biolink:Disease Holoprosencephaly HP:0000028 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000161 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000289 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000437 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000458 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000830 biolink:PhenotypicFeature HP:0000871 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001641 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0001743 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004409 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006315 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008501 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0009794 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0009914 biolink:PhenotypicFeature HP:0009924 biolink:PhenotypicFeature HP:0010301 biolink:PhenotypicFeature HP:0010302 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0011100 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012639 biolink:PhenotypicFeature HP:0100336 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100596 biolink:PhenotypicFeature Orphanet:87 biolink:Disease Apert syndrome HP:0000175 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000244 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001331 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002032 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002676 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0004487 biolink:PhenotypicFeature HP:0004635 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0011380 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100615 biolink:PhenotypicFeature HP:0200020 biolink:PhenotypicFeature Orphanet:313 biolink:Disease Lamellar ichthyosis HP:0000083 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001019 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100679 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:565 biolink:Disease Menkes disease HP:0000015 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000934 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002224 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0005293 biolink:PhenotypicFeature HP:0005344 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0007420 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010318 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100545 biolink:PhenotypicFeature HP:0100777 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:568 biolink:Disease Microphthalmia, Lenz type HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000072 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000588 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003043 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0009755 biolink:PhenotypicFeature HP:0009943 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0100818 biolink:PhenotypicFeature Orphanet:564 biolink:Disease Meckel syndrome HP:0000003 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000037 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000068 biolink:PhenotypicFeature HP:0000073 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000221 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000532 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000647 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001696 biolink:PhenotypicFeature HP:0001737 biolink:PhenotypicFeature HP:0001746 biolink:PhenotypicFeature HP:0001747 biolink:PhenotypicFeature HP:0001830 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002323 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002612 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0006706 biolink:PhenotypicFeature HP:0006870 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008053 biolink:PhenotypicFeature HP:0010295 biolink:PhenotypicFeature HP:0010459 biolink:PhenotypicFeature HP:0100732 biolink:PhenotypicFeature Orphanet:868 biolink:Disease Triose phosphate-isomerase deficiency HP:0000762 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0006597 biolink:PhenotypicFeature HP:0007009 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature Orphanet:1598 biolink:Disease Monosomy 18p HP:0000322 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000692 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0100625 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0007325 biolink:PhenotypicFeature Orphanet:1636 biolink:Disease Distal monosomy 7q36 HP:0000028 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0002648 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009773 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature HP:0100729 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:1642 biolink:Disease Distal monosomy 9p HP:0000047 biolink:PhenotypicFeature HP:0000059 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0009906 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0100625 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:3378 biolink:Disease Trisomy 13 HP:0000008 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000069 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000161 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000235 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000476 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0001362 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008046 biolink:PhenotypicFeature HP:0008053 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0100257 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000370 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0005306 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature HP:0100627 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:1707 biolink:Disease Distal trisomy 15q HP:0000028 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0005988 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0000055 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000383 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature Orphanet:3380 biolink:Disease Trisomy 18 HP:0000008 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000235 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002032 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002323 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003275 biolink:PhenotypicFeature HP:0004097 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0009914 biolink:PhenotypicFeature HP:0010935 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature HP:0100810 biolink:PhenotypicFeature Orphanet:1716 biolink:Disease Distal trisomy 18q HP:0000028 biolink:PhenotypicFeature HP:0000055 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004097 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004622 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:998 biolink:Disease Albinism-deafness syndrome HP:0000407 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001100 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0007443 biolink:PhenotypicFeature HP:0007544 biolink:PhenotypicFeature Orphanet:999 biolink:Disease Ermine phenotype HP:0000252 biolink:PhenotypicFeature HP:0000366 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001107 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature Orphanet:1000 biolink:Disease Ocular albinism with late-onset sensorineural deafness HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001107 biolink:PhenotypicFeature Orphanet:55 biolink:Disease Oculocutaneous albinism HP:0000539 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0007513 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0007750 biolink:PhenotypicFeature HP:0007894 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001107 biolink:PhenotypicFeature HP:0002226 biolink:PhenotypicFeature HP:0002227 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0006739 biolink:PhenotypicFeature HP:0011358 biolink:PhenotypicFeature HP:0011364 biolink:PhenotypicFeature HP:0200098 biolink:PhenotypicFeature HP:0002297 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0012056 biolink:PhenotypicFeature Orphanet:2771 biolink:Disease Bruck syndrome HP:0000325 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001059 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature Orphanet:218 biolink:Disease Darier disease HP:0000982 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0005212 biolink:PhenotypicFeature HP:0008410 biolink:PhenotypicFeature HP:0010612 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0200016 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature Orphanet:753 biolink:Disease 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency HP:0000028 biolink:PhenotypicFeature HP:0000033 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000051 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0100779 biolink:PhenotypicFeature Orphanet:2609 biolink:Disease Isolated complex I deficiency HP:0011923 biolink:PhenotypicFeature HP:0000114 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000817 biolink:PhenotypicFeature HP:0001138 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002352 biolink:PhenotypicFeature HP:0002415 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003542 biolink:PhenotypicFeature HP:0003737 biolink:PhenotypicFeature HP:0007704 biolink:PhenotypicFeature HP:0008316 biolink:PhenotypicFeature HP:0012748 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0025116 biolink:PhenotypicFeature Orphanet:610 biolink:Disease Bethlem myopathy HP:0001324 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003560 biolink:PhenotypicFeature HP:0009073 biolink:PhenotypicFeature HP:0030095 biolink:PhenotypicFeature HP:0000467 biolink:PhenotypicFeature HP:0001220 biolink:PhenotypicFeature HP:0001239 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003325 biolink:PhenotypicFeature HP:0003731 biolink:PhenotypicFeature HP:0006466 biolink:PhenotypicFeature HP:0009058 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001073 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001771 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002791 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0003327 biolink:PhenotypicFeature HP:0003391 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0003700 biolink:PhenotypicFeature HP:0003805 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0010176 biolink:PhenotypicFeature HP:0012497 biolink:PhenotypicFeature HP:0032152 biolink:PhenotypicFeature Orphanet:11 biolink:Disease Pentasomy X HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:2773 biolink:Disease Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature Orphanet:2772 biolink:Disease Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0000028 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001195 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0005474 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature Orphanet:626 biolink:Disease Large congenital melanocytic nevus HP:0000238 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002859 biolink:PhenotypicFeature HP:0003764 biolink:PhenotypicFeature HP:0005600 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0012056 biolink:PhenotypicFeature HP:0100242 biolink:PhenotypicFeature Orphanet:236 biolink:Disease Trisomy 9p HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000615 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005105 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0011079 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature HP:0100798 biolink:PhenotypicFeature Orphanet:1727 biolink:Disease 22q11.2 duplication syndrome HP:0000126 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000600 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001669 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008661 biolink:PhenotypicFeature HP:0009908 biolink:PhenotypicFeature HP:0010515 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0011611 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0100627 biolink:PhenotypicFeature Orphanet:3307 biolink:Disease Tetrasomy 18p HP:0000160 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002571 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature Orphanet:464 biolink:Disease Incontinentia pigmenti HP:0000202 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000532 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000573 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0001810 biolink:PhenotypicFeature HP:0001821 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0004050 biolink:PhenotypicFeature HP:0004097 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0005815 biolink:PhenotypicFeature HP:0005922 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0007850 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0008402 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0200043 biolink:PhenotypicFeature Orphanet:385 biolink:Disease Neurodegeneration with brain iron accumulation HP:0000488 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0012675 biolink:PhenotypicFeature Orphanet:30 biolink:Disease Hereditary orotic aciduria HP:0000069 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0003218 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0003526 biolink:PhenotypicFeature HP:0005435 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature Orphanet:36 biolink:Disease Acrocallosal syndrome HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:22 biolink:Disease Succinic semialdehyde dehydrogenase deficiency HP:0000708 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature Orphanet:29 biolink:Disease Mevalonic aciduria HP:0000239 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:44 biolink:Disease Neonatal adrenoleukodystrophy HP:0000174 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:56 biolink:Disease Alkaptonuria HP:0000024 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000366 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001717 biolink:PhenotypicFeature HP:0002621 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0004380 biolink:PhenotypicFeature HP:0004382 biolink:PhenotypicFeature HP:0004690 biolink:PhenotypicFeature HP:0005645 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0100550 biolink:PhenotypicFeature HP:0100593 biolink:PhenotypicFeature HP:0100773 biolink:PhenotypicFeature Orphanet:245 biolink:Disease Nager syndrome HP:0000122 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000652 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0005105 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0007776 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0009829 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:963 biolink:Disease Acromegaly HP:0000040 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0000830 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001769 biolink:PhenotypicFeature HP:0001869 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003859 biolink:PhenotypicFeature HP:0004099 biolink:PhenotypicFeature HP:0006191 biolink:PhenotypicFeature HP:0011760 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0012802 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0100607 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0006767 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0030265 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature HP:0100786 biolink:PhenotypicFeature HP:0100829 biolink:PhenotypicFeature Orphanet:819 biolink:Disease Smith-Magenis syndrome HP:0000069 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000679 biolink:PhenotypicFeature HP:0000680 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005607 biolink:PhenotypicFeature HP:0007016 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010780 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0100542 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0100729 biolink:PhenotypicFeature Orphanet:9 biolink:Disease Tetrasomy X HP:0000164 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100805 biolink:PhenotypicFeature Orphanet:773 biolink:Disease Refsum disease HP:0000083 biolink:PhenotypicFeature HP:0000458 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000616 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001765 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012722 biolink:PhenotypicFeature Orphanet:3085 biolink:Disease Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome HP:0000028 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001769 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0010562 biolink:PhenotypicFeature Orphanet:33 biolink:Disease Isovaleric acidemia HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature Orphanet:915 biolink:Disease Aarskog-Scott syndrome HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000049 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000485 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001169 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001769 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002816 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005640 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0009890 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:1334 biolink:Disease Chronic mucocutaneous candidiasis HP:0000010 biolink:PhenotypicFeature HP:0000142 biolink:PhenotypicFeature HP:0000153 biolink:PhenotypicFeature HP:0000159 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001821 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002715 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0004306 biolink:PhenotypicFeature HP:0004370 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0030016 biolink:PhenotypicFeature HP:0100825 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:1310 biolink:Disease Caffey disease HP:0000324 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004490 biolink:PhenotypicFeature HP:0005731 biolink:PhenotypicFeature HP:0005791 biolink:PhenotypicFeature HP:0006465 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0100963 biolink:PhenotypicFeature Orphanet:1154 biolink:Disease Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome HP:0000023 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001776 biolink:PhenotypicFeature HP:0004097 biolink:PhenotypicFeature HP:0005879 biolink:PhenotypicFeature HP:0010489 biolink:PhenotypicFeature HP:0010751 biolink:PhenotypicFeature Orphanet:1147 biolink:Disease Sheldon-Hall syndrome HP:0000218 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003049 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0010557 biolink:PhenotypicFeature HP:0100830 biolink:PhenotypicFeature Orphanet:1135 biolink:Disease Arrhinia-choanal atresia-microphthalmia syndrome HP:0000023 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000632 biolink:PhenotypicFeature HP:0004408 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0009924 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:90 biolink:Disease Argininemia HP:0000708 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002478 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0008339 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:1146 biolink:Disease Distal arthrogryposis type 1 HP:0000160 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0010557 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1046 biolink:Disease Lethal hemolytic anemia-genital anomalies syndrome HP:0000047 biolink:PhenotypicFeature HP:0000069 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature Orphanet:1006 biolink:Disease Alopecia antibody deficiency HP:0000405 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0011073 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:1065 biolink:Disease Aniridia-cerebellar ataxia-intellectual disability syndrome HP:0000298 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000526 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002168 biolink:PhenotypicFeature HP:0004414 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:1059 biolink:Disease Blue rubber bleb nevus HP:0000988 biolink:PhenotypicFeature HP:0001048 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0001935 biolink:PhenotypicFeature HP:0002580 biolink:PhenotypicFeature HP:0002584 biolink:PhenotypicFeature HP:0002597 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0003010 biolink:PhenotypicFeature HP:0005244 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature HP:0100761 biolink:PhenotypicFeature Orphanet:217 biolink:Disease Isolated Dandy-Walker malformation HP:0000175 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002691 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature Orphanet:226 biolink:Disease Dihydropteridine reductase deficiency HP:0000252 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature Orphanet:23 biolink:Disease Argininosuccinic aciduria HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0003217 biolink:PhenotypicFeature HP:0003218 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005961 biolink:PhenotypicFeature HP:0009886 biolink:PhenotypicFeature HP:0011362 biolink:PhenotypicFeature Orphanet:147 biolink:Disease Carbamoyl-phosphate synthetase 1 deficiency HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001951 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0005961 biolink:PhenotypicFeature Orphanet:1496 biolink:Disease Corpus callosum agenesis-neuronopathy syndrome HP:0000252 biolink:PhenotypicFeature HP:0000262 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002410 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature Orphanet:1538 biolink:Disease Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome HP:0000238 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0005472 biolink:PhenotypicFeature Orphanet:1556 biolink:Disease Cutis marmorata telangiectatica congenita HP:0000003 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000555 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001933 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0005306 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006385 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100545 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100627 biolink:PhenotypicFeature HP:0100814 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature Orphanet:1455 biolink:Disease Autosomal dominant coarctation of aorta HP:0001629 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0005113 biolink:PhenotypicFeature HP:0012303 biolink:PhenotypicFeature Orphanet:193 biolink:Disease Cohen syndrome HP:0000028 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001135 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001572 biolink:PhenotypicFeature HP:0001612 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004283 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0009906 biolink:PhenotypicFeature HP:0010295 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0011308 biolink:PhenotypicFeature HP:0100874 biolink:PhenotypicFeature HP:0200046 biolink:PhenotypicFeature Orphanet:1488 biolink:Disease Cooper-Jabs syndrome HP:0000248 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000370 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000921 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001545 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1369 biolink:Disease Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome HP:0000486 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001131 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature Orphanet:1406 biolink:Disease Charlie M syndrome HP:0000160 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:1414 biolink:Disease Cholestasis-lymphedema syndrome HP:0000952 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001012 biolink:PhenotypicFeature HP:0001080 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0003110 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0006566 biolink:PhenotypicFeature HP:0011985 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100763 biolink:PhenotypicFeature Orphanet:1452 biolink:Disease Cleidocranial dysplasia HP:0000162 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000882 biolink:PhenotypicFeature HP:0000894 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001810 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004331 biolink:PhenotypicFeature HP:0005107 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0008391 biolink:PhenotypicFeature HP:0008821 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0010751 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0011219 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0200021 biolink:PhenotypicFeature Orphanet:1915 biolink:Disease Fetal alcohol syndrome HP:0000175 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100761 biolink:PhenotypicFeature Orphanet:1885 biolink:Disease Isolated ectopia lentis HP:0000272 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001083 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0009918 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:1880 biolink:Disease Ebstein malformation of the tricuspid valve HP:0001622 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0004306 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0005110 biolink:PhenotypicFeature HP:0010316 biolink:PhenotypicFeature HP:0011575 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011712 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:246 biolink:Disease Postaxial acrofacial dysostosis HP:0000175 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000370 biolink:PhenotypicFeature HP:0000378 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000625 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0007651 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1775 biolink:Disease Dyskeratosis congenita HP:0000008 biolink:PhenotypicFeature HP:0000035 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000498 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000600 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000679 biolink:PhenotypicFeature HP:0000704 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001874 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002745 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002894 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005374 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0008661 biolink:PhenotypicFeature HP:0010450 biolink:PhenotypicFeature HP:0010624 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0011364 biolink:PhenotypicFeature HP:0012732 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100627 biolink:PhenotypicFeature HP:0100670 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:1770 biolink:Disease XY type gonadal dysgenesis-associated anomalies syndrome HP:0000069 biolink:PhenotypicFeature HP:0000133 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000288 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002000 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:1764 biolink:Disease Familial dysautonomia HP:0000077 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000522 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000615 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001063 biolink:PhenotypicFeature HP:0001100 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001278 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002047 biolink:PhenotypicFeature HP:0002103 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002585 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature HP:0200020 biolink:PhenotypicFeature Orphanet:235 biolink:Disease Dubowitz syndrome HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000055 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000829 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001874 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002025 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002035 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005338 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006721 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0009602 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:1672 biolink:Disease Diencephalic syndrome HP:0000040 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000864 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0004375 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:833 biolink:Disease Encephalopathy due to sulfite oxidase deficiency HP:0000252 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0001083 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:765 biolink:Disease Pyruvate dehydrogenase deficiency HP:0000218 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001012 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0100453 biolink:PhenotypicFeature Orphanet:408 biolink:Disease Isolated glycerol kinase deficiency HP:0000028 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008182 biolink:PhenotypicFeature Orphanet:148 biolink:Disease Multiple carboxylase deficiency HP:0000707 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0001992 biolink:PhenotypicFeature HP:0005979 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature HP:0410145 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002715 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0003690 biolink:PhenotypicFeature HP:0000575 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0008311 biolink:PhenotypicFeature Orphanet:417 biolink:Disease Neonatal severe primary hyperparathyroidism HP:0000774 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0100530 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:2233 biolink:Disease Hypogonadism-mitral valve prolapse-intellectual disability syndrome HP:0000144 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011362 biolink:PhenotypicFeature HP:0000035 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature Orphanet:2140 biolink:Disease Congenital diaphragmatic hernia HP:0000776 biolink:PhenotypicFeature HP:0000884 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0010315 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature Orphanet:2185 biolink:Disease Congenital hydrocephalus HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002472 biolink:PhenotypicFeature HP:0002536 biolink:PhenotypicFeature HP:0030048 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001104 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature Orphanet:446 biolink:Disease Neonatal hemochromatosis HP:0000347 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002612 biolink:PhenotypicFeature HP:0003281 biolink:PhenotypicFeature HP:0003452 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0006709 biolink:PhenotypicFeature HP:0100542 biolink:PhenotypicFeature Orphanet:2135 biolink:Disease Hennekam-Beemer syndrome HP:0000179 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0003189 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0100326 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100495 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100725 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature Orphanet:2116 biolink:Disease Hartnup disease HP:0000206 biolink:PhenotypicFeature HP:0000230 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008353 biolink:PhenotypicFeature HP:0012086 biolink:PhenotypicFeature Orphanet:2118 biolink:Disease Hawkinsinuria HP:0000821 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0003161 biolink:PhenotypicFeature HP:0003607 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0010917 biolink:PhenotypicFeature Orphanet:351 biolink:Disease Galactosialidosis HP:0000280 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0010729 biolink:PhenotypicFeature Orphanet:2020 biolink:Disease Congenital fiber-type disproportion myopathy HP:0001252 biolink:PhenotypicFeature HP:0003323 biolink:PhenotypicFeature HP:0011807 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002058 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0004347 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030192 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001648 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003273 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003547 biolink:PhenotypicFeature HP:0003749 biolink:PhenotypicFeature HP:0004878 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006466 biolink:PhenotypicFeature HP:0009004 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0012416 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0012785 biolink:PhenotypicFeature Orphanet:2053 biolink:Disease Freeman-Sheldon syndrome HP:0000028 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001557 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002047 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0010489 biolink:PhenotypicFeature HP:0010751 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:1933 biolink:Disease Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0000252 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0006887 biolink:PhenotypicFeature HP:0012120 biolink:PhenotypicFeature Orphanet:295 biolink:Disease Fetal parvovirus syndrome HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0010880 biolink:PhenotypicFeature Orphanet:1931 biolink:Disease Frontal encephalocele HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001362 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002415 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature Orphanet:2444 biolink:Disease Congenital pulmonary airway malformation HP:0001561 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002103 biolink:PhenotypicFeature Orphanet:2430 biolink:Disease Congenital macroglossia HP:0000158 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001067 biolink:PhenotypicFeature HP:0500030 biolink:PhenotypicFeature Orphanet:587 biolink:Disease Muir-Torre syndrome HP:0002896 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0003003 biolink:PhenotypicFeature HP:0004377 biolink:PhenotypicFeature HP:0006753 biolink:PhenotypicFeature HP:0006758 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0009720 biolink:PhenotypicFeature HP:0009726 biolink:PhenotypicFeature HP:0012114 biolink:PhenotypicFeature HP:0012118 biolink:PhenotypicFeature HP:0100684 biolink:PhenotypicFeature Orphanet:570 biolink:Disease Moebius syndrome HP:0000044 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000498 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004050 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004408 biolink:PhenotypicFeature HP:0005914 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0009751 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0010295 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0100783 biolink:PhenotypicFeature Orphanet:2466 biolink:Disease MASA syndrome HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001188 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:560 biolink:Disease Marshall syndrome HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000215 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000535 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000655 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002684 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004327 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000653 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001083 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002738 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature Orphanet:635 biolink:Disease Neuroblastoma HP:0004375 biolink:PhenotypicFeature HP:0011976 biolink:PhenotypicFeature Orphanet:2655 biolink:Disease Thanatophoric dysplasia HP:0000077 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002282 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002676 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002867 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0010880 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100781 biolink:PhenotypicFeature Orphanet:2635 biolink:Disease Metatropic dysplasia HP:0000175 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002826 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003336 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005108 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0008434 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100670 biolink:PhenotypicFeature HP:0100818 biolink:PhenotypicFeature Orphanet:606 biolink:Disease Proximal myotonic myopathy HP:0000518 biolink:PhenotypicFeature HP:0002486 biolink:PhenotypicFeature Orphanet:2746 biolink:Disease Opsismodysplasia HP:0000239 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003173 biolink:PhenotypicFeature HP:0003175 biolink:PhenotypicFeature HP:0003177 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0008479 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0100569 biolink:PhenotypicFeature Orphanet:2744 biolink:Disease Horizontal gaze palsy with progressive scoliosis HP:0000407 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0007817 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:660 biolink:Disease Omphalocele HP:0001539 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature Orphanet:2612 biolink:Disease Linear nevus sebaceus syndrome HP:0000269 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001048 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002132 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002816 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0009720 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature Orphanet:2300 biolink:Disease Multiple intestinal atresia HP:0001561 biolink:PhenotypicFeature HP:0100867 biolink:PhenotypicFeature HP:0002589 biolink:PhenotypicFeature Orphanet:2301 biolink:Disease Congenital short bowel syndrome HP:0004322 biolink:PhenotypicFeature HP:0005245 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0100627 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature Orphanet:2248 biolink:Disease Hypoplastic left heart syndrome HP:0001643 biolink:PhenotypicFeature HP:0001718 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0012304 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0011560 biolink:PhenotypicFeature Orphanet:2253 biolink:Disease Foveal hypoplasia-presenile cataract syndrome HP:0000478 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature Orphanet:2308 biolink:Disease Jacobsen syndrome HP:0000003 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000625 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0000921 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001734 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0001847 biolink:PhenotypicFeature HP:0001863 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002247 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004378 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007302 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009906 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0010761 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:2318 biolink:Disease Joubert syndrome with oculorenal defect HP:0000083 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000864 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001829 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002419 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature Orphanet:2370 biolink:Disease Larsen-like osseous dysplasia-short stature syndrome HP:0000160 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature Orphanet:2373 biolink:Disease Congenital laryngomalacia HP:0000175 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:2346 biolink:Disease Angioosteohypertrophic syndrome HP:0000098 biolink:PhenotypicFeature HP:0000140 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001012 biolink:PhenotypicFeature HP:0001048 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001180 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001528 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001704 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002597 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0004099 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0005293 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007481 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100553 biolink:PhenotypicFeature HP:0100554 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0100729 biolink:PhenotypicFeature HP:0100761 biolink:PhenotypicFeature HP:0100784 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:502 biolink:Disease Trichorhinophalangeal syndrome type 2 HP:0000010 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005039 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005743 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0009118 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature HP:0010230 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0100777 biolink:PhenotypicFeature Orphanet:2414 biolink:Disease Congenital pulmonary lymphangiectasia HP:0000961 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0006510 biolink:PhenotypicFeature HP:0011852 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature Orphanet:2374 biolink:Disease Congenital laryngeal web HP:0001601 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0010307 biolink:PhenotypicFeature Orphanet:2377 biolink:Disease Laurence-Moon syndrome HP:0000028 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002612 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009896 biolink:PhenotypicFeature HP:0100627 biolink:PhenotypicFeature Orphanet:799 biolink:Disease Schizencephaly HP:0000486 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0002132 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature Orphanet:813 biolink:Disease Silver-Russell syndrome HP:0000325 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000032 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001988 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0008364 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0010782 biolink:PhenotypicFeature HP:0011844 biolink:PhenotypicFeature HP:0012412 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0100560 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000142 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0008935 biolink:PhenotypicFeature Orphanet:3151 biolink:Disease Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome HP:0000648 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001881 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0100654 biolink:PhenotypicFeature Orphanet:816 biolink:Disease Sjögren-Larsson syndrome HP:0000252 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000608 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001264 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0100533 biolink:PhenotypicFeature HP:0200020 biolink:PhenotypicFeature Orphanet:3169 biolink:Disease Sirenomelia HP:0000062 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0010305 biolink:PhenotypicFeature HP:0010497 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature Orphanet:3173 biolink:Disease Infantile spasms-broad thumbs syndrome HP:0000235 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0100672 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature Orphanet:3205 biolink:Disease Sturge-Weber syndrome HP:0001250 biolink:PhenotypicFeature HP:0005306 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000524 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000610 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001100 biolink:PhenotypicFeature HP:0001131 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0008046 biolink:PhenotypicFeature HP:0012377 biolink:PhenotypicFeature HP:0100761 biolink:PhenotypicFeature HP:0100774 biolink:PhenotypicFeature Orphanet:3204 biolink:Disease Stormorken-Sjaastad-Langslet syndrome HP:0000348 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000616 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001746 biolink:PhenotypicFeature HP:0001872 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature Orphanet:858 biolink:Disease Congenital toxoplasmosis HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:3320 biolink:Disease Thrombocytopenia-absent radius syndrome HP:0000077 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000151 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000891 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002949 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0002990 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0003974 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004717 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006495 biolink:PhenotypicFeature HP:0006498 biolink:PhenotypicFeature HP:0006507 biolink:PhenotypicFeature HP:0007413 biolink:PhenotypicFeature HP:0009829 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0100694 biolink:PhenotypicFeature Orphanet:3346 biolink:Disease Tracheal agenesis HP:0001561 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0100682 biolink:PhenotypicFeature Orphanet:887 biolink:Disease VACTERL/VATER association HP:0000003 biolink:PhenotypicFeature HP:0000008 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000086 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000795 biolink:PhenotypicFeature HP:0001048 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001195 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001732 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002085 biolink:PhenotypicFeature HP:0002323 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0002777 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0005107 biolink:PhenotypicFeature HP:0005108 biolink:PhenotypicFeature HP:0005264 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0012732 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:291 biolink:Disease Congenital varicella syndrome HP:0000252 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature Orphanet:2801 biolink:Disease Juvenile Paget disease HP:0000164 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004437 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0100670 biolink:PhenotypicFeature Orphanet:884 biolink:Disease Tetrasomy 12p HP:0000215 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000535 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0100736 biolink:PhenotypicFeature Orphanet:705 biolink:Disease Pendred syndrome HP:0000359 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0008586 biolink:PhenotypicFeature HP:0011387 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000853 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000843 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002777 biolink:PhenotypicFeature HP:0002890 biolink:PhenotypicFeature Orphanet:718 biolink:Disease Isolated Pierre Robin syndrome HP:0000162 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000600 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0002781 biolink:PhenotypicFeature Orphanet:2901 biolink:Disease Neuralgic amyotrophy HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0001063 biolink:PhenotypicFeature HP:0001271 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature Orphanet:2903 biolink:Disease Familial spontaneous pneumothorax HP:0002086 biolink:PhenotypicFeature HP:0002103 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature Orphanet:744 biolink:Disease Proteus syndrome HP:0000040 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002858 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003715 biolink:PhenotypicFeature HP:0004099 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0004418 biolink:PhenotypicFeature HP:0004490 biolink:PhenotypicFeature HP:0005306 biolink:PhenotypicFeature HP:0005595 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0010508 biolink:PhenotypicFeature HP:0010516 biolink:PhenotypicFeature HP:0011276 biolink:PhenotypicFeature HP:0012032 biolink:PhenotypicFeature HP:0100006 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature HP:0100521 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0100560 biolink:PhenotypicFeature HP:0100615 biolink:PhenotypicFeature HP:0100730 biolink:PhenotypicFeature HP:0100761 biolink:PhenotypicFeature HP:0100764 biolink:PhenotypicFeature HP:0100774 biolink:PhenotypicFeature HP:0000053 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000464 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000557 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0001555 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002282 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006525 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0007552 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0007818 biolink:PhenotypicFeature HP:0007899 biolink:PhenotypicFeature HP:0008675 biolink:PhenotypicFeature HP:0009594 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature HP:0010497 biolink:PhenotypicFeature HP:0010566 biolink:PhenotypicFeature HP:0010788 biolink:PhenotypicFeature HP:0010816 biolink:PhenotypicFeature HP:0011386 biolink:PhenotypicFeature HP:0100777 biolink:PhenotypicFeature Orphanet:2970 biolink:Disease Prune belly syndrome HP:0000003 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000014 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000069 biolink:PhenotypicFeature HP:0000072 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000130 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002580 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0005199 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0010957 biolink:PhenotypicFeature HP:0011100 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100779 biolink:PhenotypicFeature Orphanet:2971 biolink:Disease Peroxisomal acyl-CoA oxidase deficiency HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012639 biolink:PhenotypicFeature Orphanet:2983 biolink:Disease Disorder of sex development-intellectual disability syndrome HP:0000046 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008625 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature Orphanet:3071 biolink:Disease Costello syndrome HP:0000028 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000563 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001598 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0001814 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002224 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004690 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0009748 biolink:PhenotypicFeature HP:0012740 biolink:PhenotypicFeature HP:0100679 biolink:PhenotypicFeature HP:0100729 biolink:PhenotypicFeature Orphanet:290 biolink:Disease Congenital rubella syndrome HP:0000235 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001264 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004414 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008053 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature Orphanet:834 biolink:Disease Free sialic acid storage disease HP:0000093 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002305 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0010318 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:666 biolink:Disease Osteogenesis imperfecta HP:0000023 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000703 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000883 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002980 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0003100 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0003179 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004306 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004331 biolink:PhenotypicFeature HP:0004586 biolink:PhenotypicFeature HP:0005019 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0011073 biolink:PhenotypicFeature HP:0100761 biolink:PhenotypicFeature HP:0011314 biolink:PhenotypicFeature HP:0004942 biolink:PhenotypicFeature HP:0002647 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0002616 biolink:PhenotypicFeature HP:0005294 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0012366 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002512 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0030267 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0002947 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0000973 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0003083 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0004621 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0003084 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0030268 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0000410 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0006640 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0010953 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0001730 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0005257 biolink:PhenotypicFeature HP:0100661 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002953 biolink:PhenotypicFeature Orphanet:581 biolink:Disease Mucopolysaccharidosis type 3 HP:0000023 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001604 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004493 biolink:PhenotypicFeature HP:0006887 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008155 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0001646 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0001637 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0004452 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0001678 biolink:PhenotypicFeature HP:0005743 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0007009 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0012185 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000734 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0000943 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0030195 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002159 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000710 biolink:PhenotypicFeature HP:0030214 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000410 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0007759 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0002505 biolink:PhenotypicFeature HP:0002344 biolink:PhenotypicFeature HP:0001538 biolink:PhenotypicFeature HP:0005425 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0012664 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0000546 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0100874 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0000391 biolink:PhenotypicFeature HP:0031458 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0001133 biolink:PhenotypicFeature HP:0030838 biolink:PhenotypicFeature HP:0002254 biolink:PhenotypicFeature HP:0100512 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0011110 biolink:PhenotypicFeature HP:0002781 biolink:PhenotypicFeature HP:0003541 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature Orphanet:388 biolink:Disease Hirschsprung disease HP:0000407 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0012719 biolink:PhenotypicFeature HP:0100031 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0200008 biolink:PhenotypicFeature Orphanet:364 biolink:Disease Glycogen storage disease due to glucose-6-phosphatase deficiency HP:0000293 biolink:PhenotypicFeature HP:0000991 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:355 biolink:Disease Gaucher disease HP:0000093 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001103 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001637 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001697 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003330 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0004380 biolink:PhenotypicFeature HP:0004382 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0010729 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:354 biolink:Disease GM1 gangliosidosis HP:0000023 biolink:PhenotypicFeature HP:0000045 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000940 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004345 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0007325 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008046 biolink:PhenotypicFeature HP:0010318 biolink:PhenotypicFeature HP:0010729 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100670 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0025013 biolink:PhenotypicFeature HP:0008166 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0000943 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0040197 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0001543 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0025190 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0012523 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0500049 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature Orphanet:3440 biolink:Disease Waardenburg syndrome HP:0000130 biolink:PhenotypicFeature HP:0000142 biolink:PhenotypicFeature HP:0000153 biolink:PhenotypicFeature HP:0000159 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000632 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001100 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002211 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0100811 biolink:PhenotypicFeature Orphanet:886 biolink:Disease Usher syndrome HP:0000144 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001751 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature HP:0008568 biolink:PhenotypicFeature HP:0010780 biolink:PhenotypicFeature HP:0011025 biolink:PhenotypicFeature HP:0011073 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:791 biolink:Disease Retinitis pigmentosa HP:0000035 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000563 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007675 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008046 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature Orphanet:738 biolink:Disease Porphyria HP:0000708 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0005679 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0010472 biolink:PhenotypicFeature HP:0012086 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:702 biolink:Disease Pelizaeus-Merzbacher disease HP:0000079 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature Orphanet:54 biolink:Disease X-linked recessive ocular albinism HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000615 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001103 biolink:PhenotypicFeature HP:0001107 biolink:PhenotypicFeature HP:0001480 biolink:PhenotypicFeature HP:0005592 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0007750 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature Orphanet:716 biolink:Disease Phenylketonuria HP:0002564 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:1422 biolink:Disease Chondrodysplasia-disorder of sex development syndrome HP:0000037 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000616 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001322 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003043 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004330 biolink:PhenotypicFeature HP:0005622 biolink:PhenotypicFeature HP:0007676 biolink:PhenotypicFeature HP:0009803 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature Orphanet:3447 biolink:Disease Weaver syndrome HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001769 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0001814 biolink:PhenotypicFeature HP:0001816 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010300 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:84 biolink:Disease Fanconi anemia HP:0000010 biolink:PhenotypicFeature HP:0000027 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000035 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000072 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000130 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000813 biolink:PhenotypicFeature HP:0000864 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001646 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001871 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002245 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0003220 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0005344 biolink:PhenotypicFeature HP:0005522 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006265 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0007874 biolink:PhenotypicFeature HP:0008053 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0010293 biolink:PhenotypicFeature HP:0010469 biolink:PhenotypicFeature HP:0012041 biolink:PhenotypicFeature HP:0012210 biolink:PhenotypicFeature HP:0012639 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature HP:0100542 biolink:PhenotypicFeature HP:0100587 biolink:PhenotypicFeature HP:0100760 biolink:PhenotypicFeature HP:0100867 biolink:PhenotypicFeature Orphanet:154 biolink:Disease Familial isolated dilated cardiomyopathy HP:0000407 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001874 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature Orphanet:3165 biolink:Disease Eosinophilic fasciitis HP:0000969 biolink:PhenotypicFeature HP:0001063 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001879 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0100537 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0100748 biolink:PhenotypicFeature Orphanet:442 biolink:Disease Congenital hypothyroidism HP:0000080 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000458 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000830 biolink:PhenotypicFeature HP:0000853 biolink:PhenotypicFeature HP:0001071 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001615 biolink:PhenotypicFeature HP:0001697 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004491 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0008188 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature Orphanet:900 biolink:Disease Granulomatosis with polyangiitis HP:0000024 biolink:PhenotypicFeature HP:0000071 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000163 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000366 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000864 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002102 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002955 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0006510 biolink:PhenotypicFeature HP:0006535 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012649 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100533 biolink:PhenotypicFeature HP:0100539 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:761 biolink:Disease Immunoglobulin A vasculitis HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002111 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0005244 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011276 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0100534 biolink:PhenotypicFeature HP:0100665 biolink:PhenotypicFeature HP:0100796 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:375 biolink:Disease Anti-glomerular basement membrane disease HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0006335 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature Orphanet:727 biolink:Disease Microscopic polyangiitis HP:0000083 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001933 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0005244 biolink:PhenotypicFeature HP:0008046 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012649 biolink:PhenotypicFeature HP:0100520 biolink:PhenotypicFeature HP:0100534 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:2406 biolink:Disease Locked-in syndrome HP:0000365 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0002425 biolink:PhenotypicFeature HP:0002445 biolink:PhenotypicFeature HP:0003781 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature Orphanet:293 biolink:Disease Congenital herpes simplex virus infection HP:0000252 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002324 biolink:PhenotypicFeature Orphanet:1928 biolink:Disease Congenital lobar emphysema HP:0002097 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature Orphanet:3287 biolink:Disease Takayasu arteritis HP:0000488 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001646 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004306 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0005111 biolink:PhenotypicFeature HP:0005244 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012649 biolink:PhenotypicFeature HP:0100533 biolink:PhenotypicFeature HP:0100545 biolink:PhenotypicFeature HP:0100576 biolink:PhenotypicFeature HP:0100735 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:234 biolink:Disease Dubin-Johnson syndrome HP:0000952 biolink:PhenotypicFeature HP:0001080 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002908 biolink:PhenotypicFeature HP:0004295 biolink:PhenotypicFeature HP:0012086 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:3452 biolink:Disease Whipple disease HP:0000238 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002102 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0100639 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100829 biolink:PhenotypicFeature Orphanet:2331 biolink:Disease Kawasaki disease HP:0000093 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0025289 biolink:PhenotypicFeature HP:0025493 biolink:PhenotypicFeature HP:0100776 biolink:PhenotypicFeature HP:0100825 biolink:PhenotypicFeature HP:0000206 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100643 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001082 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0005111 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0011658 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0100586 biolink:PhenotypicFeature Orphanet:2040 biolink:Disease Congenital respiratory-biliary fistula HP:0001392 biolink:PhenotypicFeature HP:0002777 biolink:PhenotypicFeature Orphanet:1195 biolink:Disease Congenital atransferrinemia HP:0000821 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001732 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature Orphanet:598 biolink:Disease Multiminicore myopathy HP:0003198 biolink:PhenotypicFeature HP:0003741 biolink:PhenotypicFeature HP:0003789 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0004303 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0000544 biolink:PhenotypicFeature HP:0002047 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature Orphanet:732 biolink:Disease Polymyositis HP:0000091 biolink:PhenotypicFeature HP:0000934 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0004303 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0005150 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012544 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature Orphanet:221 biolink:Disease Dermatomyositis HP:0000492 biolink:PhenotypicFeature HP:0000934 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001063 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001879 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002207 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009071 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011362 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011703 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0030078 biolink:PhenotypicFeature HP:0100539 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0100723 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:117 biolink:Disease Behçet disease HP:0000083 biolink:PhenotypicFeature HP:0000155 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001637 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002102 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0011107 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012649 biolink:PhenotypicFeature HP:0100326 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0100653 biolink:PhenotypicFeature HP:0100654 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0100584 biolink:PhenotypicFeature HP:0100796 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:270 biolink:Disease Oculopharyngeal muscular dystrophy HP:0000298 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000600 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003200 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003302 biolink:PhenotypicFeature HP:0003805 biolink:PhenotypicFeature HP:0004303 biolink:PhenotypicFeature Orphanet:3137 biolink:Disease Alpha-N-acetylgalactosaminidase deficiency HP:0000280 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002445 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010471 biolink:PhenotypicFeature HP:0011276 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature Orphanet:611 biolink:Disease Inclusion body myositis HP:0001315 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003200 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0003731 biolink:PhenotypicFeature HP:0003805 biolink:PhenotypicFeature HP:0004303 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009071 biolink:PhenotypicFeature Orphanet:1202 biolink:Disease Larynx atresia HP:0001601 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:2368 biolink:Disease Gastroschisis HP:0001543 biolink:PhenotypicFeature HP:0011100 biolink:PhenotypicFeature HP:0100016 biolink:PhenotypicFeature Orphanet:1164 biolink:Disease Allergic bronchopulmonary aspergillosis HP:0001231 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001879 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002109 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002715 biolink:PhenotypicFeature HP:0011134 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature Orphanet:183 biolink:Disease Eosinophilic granulomatosis with polyangiitis HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001063 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001697 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002103 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0006535 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007009 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012649 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0100582 biolink:PhenotypicFeature HP:0100584 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:511 biolink:Disease Maple syrup urine disease HP:0000600 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0008344 biolink:PhenotypicFeature Orphanet:26 biolink:Disease Methylmalonic acidemia with homocystinuria HP:0000252 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001980 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature Orphanet:32 biolink:Disease Glutathione synthetase deficiency HP:0000707 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0001996 biolink:PhenotypicFeature HP:0003343 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature Orphanet:92 biolink:Disease Juvenile idiopathic arthritis HP:0000554 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001367 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001803 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002103 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003765 biolink:PhenotypicFeature HP:0005595 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature HP:0100773 biolink:PhenotypicFeature HP:0100781 biolink:PhenotypicFeature Orphanet:847 biolink:Disease Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000010 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000037 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002580 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010461 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0010806 biolink:PhenotypicFeature HP:0011328 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0011902 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0012736 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:342 biolink:Disease Familial Mediterranean fever HP:0000093 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001055 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002102 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002745 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0005244 biolink:PhenotypicFeature HP:0006554 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100796 biolink:PhenotypicFeature Orphanet:373 biolink:Disease Simpson-Golabi-Behmel syndrome HP:0000003 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000072 biolink:PhenotypicFeature HP:0000073 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001748 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001769 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002884 biolink:PhenotypicFeature HP:0002948 biolink:PhenotypicFeature HP:0003006 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004510 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009536 biolink:PhenotypicFeature HP:0010318 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0011710 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:754 biolink:Disease Androgen insensitivity syndrome HP:0000008 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000033 biolink:PhenotypicFeature HP:0000037 biolink:PhenotypicFeature HP:0000130 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0002215 biolink:PhenotypicFeature HP:0002221 biolink:PhenotypicFeature HP:0002225 biolink:PhenotypicFeature HP:0002555 biolink:PhenotypicFeature HP:0003251 biolink:PhenotypicFeature HP:0008655 biolink:PhenotypicFeature HP:0008684 biolink:PhenotypicFeature HP:0010788 biolink:PhenotypicFeature Orphanet:2398 biolink:Disease Multiple symmetric lipomatosis HP:0000855 biolink:PhenotypicFeature HP:0001012 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0009124 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature Orphanet:1656 biolink:Disease Dermatitis herpetiformis HP:0000964 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001935 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0100725 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature Orphanet:582 biolink:Disease Mucopolysaccharidosis type 4 HP:0000154 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000683 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0008155 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:397 biolink:Disease Giant cell arteritis HP:0000083 biolink:PhenotypicFeature HP:0000206 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001872 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002103 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0002647 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0004953 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0005244 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011658 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100576 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature HP:0100776 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:131 biolink:Disease Budd-Chiari syndrome HP:0000952 biolink:PhenotypicFeature HP:0001082 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002040 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0005244 biolink:PhenotypicFeature HP:0006554 biolink:PhenotypicFeature Orphanet:646 biolink:Disease Niemann-Pick disease type C HP:0000708 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0010318 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0011400 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0011446 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0008765 biolink:PhenotypicFeature HP:0002530 biolink:PhenotypicFeature HP:0007302 biolink:PhenotypicFeature HP:0004333 biolink:PhenotypicFeature HP:0002524 biolink:PhenotypicFeature HP:0011398 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000734 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0001791 biolink:PhenotypicFeature HP:0003651 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0006913 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002415 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0003349 biolink:PhenotypicFeature HP:0000744 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0030050 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0002344 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0000511 biolink:PhenotypicFeature HP:0002367 biolink:PhenotypicFeature Orphanet:654 biolink:Disease Nephroblastoma HP:0000526 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002896 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature Orphanet:2380 biolink:Disease Legg-Calvé-Perthes disease HP:0000164 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0100773 biolink:PhenotypicFeature Orphanet:770 biolink:Disease Rabies HP:0000716 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003781 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0100776 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001604 biolink:PhenotypicFeature Orphanet:1267 biolink:Disease Botulism HP:0000016 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0006597 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0010547 biolink:PhenotypicFeature HP:0011499 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0009113 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:2897 biolink:Disease Pityriasis rubra pilaris HP:0000163 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001019 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008392 biolink:PhenotypicFeature HP:0100725 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature Orphanet:549 biolink:Disease Legionnaires disease HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002103 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0100584 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100776 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:3463 biolink:Disease Wolfram syndrome HP:0000010 biolink:PhenotypicFeature HP:0000026 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0002592 biolink:PhenotypicFeature HP:0002871 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0100016 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature Orphanet:704 biolink:Disease Pemphigus vulgaris HP:0000163 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0100792 biolink:PhenotypicFeature HP:0100838 biolink:PhenotypicFeature Orphanet:2314 biolink:Disease Autosomal dominant hyper-IgE syndrome HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000230 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001818 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0008391 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:828 biolink:Disease Stickler syndrome HP:0000158 biolink:PhenotypicFeature HP:0000162 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000940 biolink:PhenotypicFeature HP:0001083 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0001533 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003179 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0004327 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006288 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0010290 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:3303 biolink:Disease Tetralogy of Fallot HP:0000028 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0005105 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature Orphanet:113 biolink:Disease Bazex-Dupré-Christol syndrome HP:0001056 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0004782 biolink:PhenotypicFeature HP:0000535 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0003777 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0009886 biolink:PhenotypicFeature HP:0200102 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0100720 biolink:PhenotypicFeature HP:0100777 biolink:PhenotypicFeature Orphanet:243 biolink:Disease 46,XX gonadal dysgenesis HP:0000133 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0100805 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0008214 biolink:PhenotypicFeature HP:0009888 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0002225 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0005625 biolink:PhenotypicFeature HP:0008684 biolink:PhenotypicFeature HP:0010311 biolink:PhenotypicFeature HP:0010464 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature Orphanet:2268 biolink:Disease ICF syndrome HP:0000158 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001334 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001874 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0003220 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005374 biolink:PhenotypicFeature HP:0010808 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature Orphanet:475 biolink:Disease Joubert syndrome HP:0000202 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0000864 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001696 biolink:PhenotypicFeature HP:0001829 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0002876 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature Orphanet:392 biolink:Disease Holt-Oram syndrome HP:0000767 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001678 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0004757 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0009777 biolink:PhenotypicFeature HP:0011705 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0003063 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006695 biolink:PhenotypicFeature HP:0009829 biolink:PhenotypicFeature HP:0010772 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0200021 biolink:PhenotypicFeature Orphanet:3103 biolink:Disease Roberts syndrome HP:0000028 biolink:PhenotypicFeature HP:0000040 biolink:PhenotypicFeature HP:0000057 biolink:PhenotypicFeature HP:0000113 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000387 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001239 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005011 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0005876 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006443 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0007452 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0008846 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0009466 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature HP:0009829 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0009943 biolink:PhenotypicFeature Orphanet:776 biolink:Disease Lujan-Fryns syndrome HP:0000053 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature Orphanet:1473 biolink:Disease Uveal coloboma-cleft lip and palate-intellectual disability HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000627 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002744 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature Orphanet:184 biolink:Disease Cherubism HP:0000164 biolink:PhenotypicFeature HP:0000277 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0002781 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0012062 biolink:PhenotypicFeature HP:0012802 biolink:PhenotypicFeature Orphanet:808 biolink:Disease Seckel syndrome HP:0000252 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000363 biolink:PhenotypicFeature HP:0000387 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:3027 biolink:Disease Caudal regression syndrome HP:0000028 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000069 biolink:PhenotypicFeature HP:0000073 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000086 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000921 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002139 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0005640 biolink:PhenotypicFeature HP:0008479 biolink:PhenotypicFeature HP:0008517 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0011867 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature Orphanet:902 biolink:Disease Werner syndrome HP:0000135 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001533 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002211 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0003777 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0010721 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0000035 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0000934 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0002621 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004415 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007618 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0010468 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100679 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002672 biolink:PhenotypicFeature HP:0002858 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0002890 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0009726 biolink:PhenotypicFeature HP:0012056 biolink:PhenotypicFeature HP:0012060 biolink:PhenotypicFeature HP:0100242 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature HP:0100615 biolink:PhenotypicFeature HP:0100649 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature HP:0100833 biolink:PhenotypicFeature Orphanet:897 biolink:Disease Waardenburg-Shah syndrome HP:0000365 biolink:PhenotypicFeature HP:0000366 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001103 biolink:PhenotypicFeature HP:0001341 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002211 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0002226 biolink:PhenotypicFeature HP:0002227 biolink:PhenotypicFeature HP:0002242 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature Orphanet:871 biolink:Disease Familial progressive cardiac conduction defect HP:0001279 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011710 biolink:PhenotypicFeature HP:0012722 biolink:PhenotypicFeature Orphanet:709 biolink:Disease Peters plus syndrome HP:0000219 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000659 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002000 biolink:PhenotypicFeature HP:0002263 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0007833 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004414 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0008569 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0000003 biolink:PhenotypicFeature HP:0000013 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000060 biolink:PhenotypicFeature HP:0000073 biolink:PhenotypicFeature HP:0000075 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000830 biolink:PhenotypicFeature HP:0000851 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0007744 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0100819 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0005182 biolink:PhenotypicFeature HP:0030968 biolink:PhenotypicFeature Orphanet:888 biolink:Disease Van der Woude syndrome HP:0000175 biolink:PhenotypicFeature HP:0000196 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0010286 biolink:PhenotypicFeature HP:0100267 biolink:PhenotypicFeature Orphanet:650 biolink:Disease LCAT deficiency HP:0002155 biolink:PhenotypicFeature HP:0003233 biolink:PhenotypicFeature HP:0031799 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0002621 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0012213 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0005181 biolink:PhenotypicFeature Orphanet:180 biolink:Disease Choroideremia HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature Orphanet:638 biolink:Disease Neurofibromatosis-Noonan syndrome HP:0000028 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0003010 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0009023 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature HP:0100763 biolink:PhenotypicFeature Orphanet:526 biolink:Disease Liddle syndrome HP:0000083 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:140 biolink:Disease Campomelic dysplasia HP:0000037 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000878 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002779 biolink:PhenotypicFeature HP:0002786 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002980 biolink:PhenotypicFeature HP:0002982 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003038 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004408 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0006584 biolink:PhenotypicFeature HP:0007036 biolink:PhenotypicFeature HP:0008477 biolink:PhenotypicFeature HP:0008821 biolink:PhenotypicFeature HP:0010781 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature Orphanet:627 biolink:Disease Nance-Horan syndrome HP:0000164 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature Orphanet:634 biolink:Disease Netherton syndrome HP:0000086 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000535 biolink:PhenotypicFeature HP:0000653 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001019 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0007479 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0009886 biolink:PhenotypicFeature HP:0100326 biolink:PhenotypicFeature Orphanet:642 biolink:Disease Hereditary sensory and autonomic neuropathy type 4 HP:0000742 biolink:PhenotypicFeature HP:0000970 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002726 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0003134 biolink:PhenotypicFeature HP:0007021 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature HP:0011136 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001954 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002661 biolink:PhenotypicFeature HP:0002821 biolink:PhenotypicFeature HP:0003091 biolink:PhenotypicFeature HP:0005368 biolink:PhenotypicFeature HP:0006480 biolink:PhenotypicFeature HP:0012170 biolink:PhenotypicFeature HP:0025615 biolink:PhenotypicFeature HP:0100491 biolink:PhenotypicFeature HP:0100537 biolink:PhenotypicFeature HP:0100725 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001955 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002100 biolink:PhenotypicFeature HP:0002270 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003028 biolink:PhenotypicFeature HP:0003095 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0004926 biolink:PhenotypicFeature HP:0008000 biolink:PhenotypicFeature HP:0009085 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0030757 biolink:PhenotypicFeature HP:0030811 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0100712 biolink:PhenotypicFeature HP:0100851 biolink:PhenotypicFeature HP:0000559 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0012804 biolink:PhenotypicFeature HP:0100963 biolink:PhenotypicFeature Orphanet:1695 biolink:Disease Non-distal trisomy 10q HP:0000028 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0008056 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:1699 biolink:Disease Trisomy 12p HP:0000079 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000262 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008053 biolink:PhenotypicFeature HP:0008056 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature Orphanet:1621 biolink:Disease 3q13 microdeletion syndrome HP:0000028 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000235 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature Orphanet:1643 biolink:Disease Xp22.3 microdeletion syndrome HP:0000044 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0007759 biolink:PhenotypicFeature HP:0008056 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature Orphanet:1597 biolink:Disease Distal monosomy 17q HP:0000160 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000288 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004097 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0010293 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature HP:0100560 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:1620 biolink:Disease Distal monosomy 3p HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0006695 biolink:PhenotypicFeature HP:0007670 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:1587 biolink:Disease Monosomy 13q14 HP:0000243 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000391 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0009919 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature Orphanet:1590 biolink:Disease Distal monosomy 13q HP:0000062 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002323 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008056 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100589 biolink:PhenotypicFeature Orphanet:1580 biolink:Disease Distal monosomy 10p HP:0000028 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:1581 biolink:Disease Non-distal monosomy 10q HP:0000286 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0010557 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:1450 biolink:Disease Ring chromosome 8 syndrome HP:0000069 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004097 biolink:PhenotypicFeature HP:0100830 biolink:PhenotypicFeature Orphanet:1552 biolink:Disease Currarino syndrome HP:0008517 biolink:PhenotypicFeature HP:0030736 biolink:PhenotypicFeature HP:0000037 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0002242 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature Orphanet:1447 biolink:Disease Ring chromosome 4 syndrome HP:0001171 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature Orphanet:1448 biolink:Disease Ring chromosome 6 syndrome HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0100589 biolink:PhenotypicFeature Orphanet:1437 biolink:Disease Ring chromosome 1 syndrome HP:0000252 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:1438 biolink:Disease Ring chromosome 10 syndrome HP:0000233 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0009748 biolink:PhenotypicFeature Orphanet:172 biolink:Disease Progressive familial intrahepatic cholestasis HP:0000952 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001872 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:1358 biolink:Disease Carey-Fineman-Ziter syndrome HP:0000126 biolink:PhenotypicFeature HP:0000162 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000201 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000634 biolink:PhenotypicFeature HP:0000807 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001600 biolink:PhenotypicFeature HP:0001602 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0009751 biolink:PhenotypicFeature HP:0010295 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0100735 biolink:PhenotypicFeature Orphanet:1354 biolink:Disease Heart defects-limb shortening syndrome HP:0000772 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0001702 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003498 biolink:PhenotypicFeature HP:0004414 biolink:PhenotypicFeature HP:0005026 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature Orphanet:1308 biolink:Disease C syndrome HP:0000003 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000191 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003083 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004378 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0007601 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0010318 biolink:PhenotypicFeature HP:0010458 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0100720 biolink:PhenotypicFeature Orphanet:111 biolink:Disease Barth syndrome HP:0001644 biolink:PhenotypicFeature HP:0001706 biolink:PhenotypicFeature HP:0001874 biolink:PhenotypicFeature HP:0008322 biolink:PhenotypicFeature Orphanet:10 biolink:Disease 48,XXYY syndrome HP:0000023 biolink:PhenotypicFeature HP:0000027 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000679 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003043 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0012802 biolink:PhenotypicFeature Orphanet:2052 biolink:Disease Fraser syndrome HP:0000003 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000068 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000142 biolink:PhenotypicFeature HP:0000148 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000370 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000813 biolink:PhenotypicFeature HP:0001126 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001362 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001602 biolink:PhenotypicFeature HP:0001607 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002025 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002777 biolink:PhenotypicFeature HP:0003183 biolink:PhenotypicFeature HP:0003191 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004112 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007925 biolink:PhenotypicFeature HP:0007993 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010297 biolink:PhenotypicFeature HP:0010458 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature Orphanet:242 biolink:Disease 46,XY complete gonadal dysgenesis HP:0000037 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0008715 biolink:PhenotypicFeature Orphanet:240 biolink:Disease Léri-Weill dyschondrosteosis HP:0000431 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001191 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002648 biolink:PhenotypicFeature HP:0002818 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0002982 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0002986 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0003027 biolink:PhenotypicFeature HP:0003031 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003063 biolink:PhenotypicFeature HP:0003067 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005019 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005736 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006248 biolink:PhenotypicFeature HP:0006443 biolink:PhenotypicFeature HP:0006459 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature HP:0010624 biolink:PhenotypicFeature HP:0100777 biolink:PhenotypicFeature Orphanet:2311 biolink:Disease Autosomal recessive spondylocostal dysostosis HP:0000008 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000069 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000902 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005108 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006655 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0010772 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100589 biolink:PhenotypicFeature Orphanet:233 biolink:Disease Duane retraction syndrome HP:0000086 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000402 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000526 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000615 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000643 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003974 biolink:PhenotypicFeature HP:0005640 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0007766 biolink:PhenotypicFeature HP:0007818 biolink:PhenotypicFeature HP:0007990 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0011365 biolink:PhenotypicFeature HP:0011386 biolink:PhenotypicFeature HP:0012246 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0012732 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature Orphanet:500 biolink:Disease Noonan syndrome with multiple lentigines HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000078 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001003 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001480 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001641 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0003006 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0004306 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004414 biolink:PhenotypicFeature HP:0006695 biolink:PhenotypicFeature HP:0007392 biolink:PhenotypicFeature HP:0008625 biolink:PhenotypicFeature HP:0010318 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011710 biolink:PhenotypicFeature HP:0100542 biolink:PhenotypicFeature Orphanet:1706 biolink:Disease Mosaic trisomy 15 HP:0000707 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0004097 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:7 biolink:Disease 3C syndrome HP:0000023 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000235 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000329 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000835 biolink:PhenotypicFeature HP:0000921 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001195 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001702 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006695 biolink:PhenotypicFeature HP:0006709 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature Orphanet:916 biolink:Disease Aase-Smith syndrome HP:0000175 biolink:PhenotypicFeature HP:0000211 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001238 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:920 biolink:Disease Ablepharon macrostomia syndrome HP:0000055 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000561 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001126 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002223 biolink:PhenotypicFeature HP:0003187 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006709 biolink:PhenotypicFeature HP:0007392 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature HP:0011224 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0200020 biolink:PhenotypicFeature Orphanet:3176 biolink:Disease Spina bifida-hypospadias syndrome HP:0000047 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0010301 biolink:PhenotypicFeature Orphanet:3305 biolink:Disease Tetraploidy HP:0000126 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0004059 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0008056 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0010515 biolink:PhenotypicFeature HP:0100720 biolink:PhenotypicFeature Orphanet:3375 biolink:Disease Trisomy X HP:0000003 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:3376 biolink:Disease Triploidy HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000235 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001732 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0004331 biolink:PhenotypicFeature HP:0005264 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008056 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:624 biolink:Disease Familial multiple nevi flammei HP:0000501 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0001052 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001291 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0005293 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:3000 biolink:Disease Familial male-limited precocious puberty HP:0000040 biolink:PhenotypicFeature HP:0000053 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000798 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0003251 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature Orphanet:2604 biolink:Disease Familial visceral myopathy HP:0000021 biolink:PhenotypicFeature HP:0000072 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000843 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001798 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0003363 biolink:PhenotypicFeature HP:0010318 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:2597 biolink:Disease Mitochondrial myopathy-lactic acidosis-deafness syndrome HP:0000407 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003348 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0003737 biolink:PhenotypicFeature HP:0004320 biolink:PhenotypicFeature Orphanet:2598 biolink:Disease Mitochondrial myopathy and sideroblastic anemia HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0003737 biolink:PhenotypicFeature HP:0009055 biolink:PhenotypicFeature HP:0009743 biolink:PhenotypicFeature Orphanet:156 biolink:Disease Carnitine palmitoyl transferase 1A deficiency HP:0000708 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001947 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0008279 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:1948 biolink:Disease Epilepsy-microcephaly-skeletal dysplasia syndrome HP:0000252 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature Orphanet:1946 biolink:Disease Amelocerebrohypohidrotic syndrome HP:0000238 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006286 biolink:PhenotypicFeature HP:0011073 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000705 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:381 biolink:Disease Griscelli syndrome HP:0000238 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001874 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0002218 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0003119 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0011364 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:1951 biolink:Disease Epilepsy-telangiectasia syndrome HP:0000164 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000524 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002720 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009237 biolink:PhenotypicFeature Orphanet:1876 biolink:Disease Oculogastrointestinal muscular dystrophy HP:0001633 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002578 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0004389 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000544 biolink:PhenotypicFeature HP:0004295 biolink:PhenotypicFeature HP:0005203 biolink:PhenotypicFeature Orphanet:1762 biolink:Disease Proximal Xq28 duplication syndrome HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0004299 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature Orphanet:1878 biolink:Disease TRIM32-related limb-girdle muscular dystrophy R8 HP:0000098 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature Orphanet:1742 biolink:Disease Trisomy 5p HP:0000256 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:1738 biolink:Disease Trisomy 4p HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0004059 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:1752 biolink:Disease Trisomy 8q HP:0000028 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000190 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0006191 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010751 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100627 biolink:PhenotypicFeature HP:0100818 biolink:PhenotypicFeature HP:0010297 biolink:PhenotypicFeature HP:0012062 biolink:PhenotypicFeature Orphanet:1745 biolink:Disease Distal trisomy 6p HP:0000079 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0008056 biolink:PhenotypicFeature HP:0009896 biolink:PhenotypicFeature HP:0009906 biolink:PhenotypicFeature HP:0011362 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature HP:0100818 biolink:PhenotypicFeature Orphanet:1703 biolink:Disease Mosaic trisomy 14 HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008056 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature Orphanet:1702 biolink:Disease Non-distal trisomy 13q HP:0000028 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0008056 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0009906 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:1713 biolink:Disease 17p11.2 microduplication syndrome HP:0000154 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000600 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002474 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0200136 biolink:PhenotypicFeature Orphanet:1705 biolink:Disease Distal trisomy 14q HP:0000365 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0010935 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:991 biolink:Disease PAGOD syndrome HP:0000003 biolink:PhenotypicFeature HP:0000008 biolink:PhenotypicFeature HP:0000035 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000130 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0001696 biolink:PhenotypicFeature HP:0001743 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0004414 biolink:PhenotypicFeature HP:0004971 biolink:PhenotypicFeature HP:0008633 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0010458 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature Orphanet:51 biolink:Disease Aicardi-Goutières syndrome HP:0009709 biolink:PhenotypicFeature HP:0009710 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0030356 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0001063 biolink:PhenotypicFeature HP:0001087 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0002132 biolink:PhenotypicFeature HP:0002139 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0007052 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000625 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001955 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002371 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002415 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003683 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0007076 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0009704 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0004809 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0012490 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0004942 biolink:PhenotypicFeature HP:0004963 biolink:PhenotypicFeature HP:0005550 biolink:PhenotypicFeature HP:0011834 biolink:PhenotypicFeature HP:0030038 biolink:PhenotypicFeature HP:0040140 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature Orphanet:989 biolink:Disease Hypoglossia-hypodactyly syndrome HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001291 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001543 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0005235 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006265 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009776 biolink:PhenotypicFeature HP:0009813 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010295 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature Orphanet:990 biolink:Disease Agnathia-holoprosencephaly-situs inversus syndrome HP:0000160 biolink:PhenotypicFeature HP:0000171 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001291 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001696 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009914 biolink:PhenotypicFeature HP:0009924 biolink:PhenotypicFeature HP:0009939 biolink:PhenotypicFeature HP:0011386 biolink:PhenotypicFeature HP:0100596 biolink:PhenotypicFeature HP:0100663 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:983 biolink:Disease Testicular regression syndrome HP:0000008 biolink:PhenotypicFeature HP:0000022 biolink:PhenotypicFeature HP:0000037 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0008633 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010468 biolink:PhenotypicFeature HP:0010469 biolink:PhenotypicFeature Orphanet:988 biolink:Disease Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome HP:0002991 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0005772 biolink:PhenotypicFeature HP:0006443 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature Orphanet:977 biolink:Disease Adrenomyodystrophy HP:0000021 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000485 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002242 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature Orphanet:978 biolink:Disease ADULT syndrome HP:0000164 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000579 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001480 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001803 biolink:PhenotypicFeature HP:0001839 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002557 biolink:PhenotypicFeature HP:0002561 biolink:PhenotypicFeature HP:0003187 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0100797 biolink:PhenotypicFeature HP:0100798 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:1008 biolink:Disease Alopecia-epilepsy-pyorrhea-intellectual disability syndrome HP:0000164 biolink:PhenotypicFeature HP:0000230 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000704 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0002289 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature Orphanet:701 biolink:Disease Alopecia universalis HP:0000561 biolink:PhenotypicFeature HP:0002223 biolink:PhenotypicFeature HP:0002229 biolink:PhenotypicFeature HP:0002289 biolink:PhenotypicFeature Orphanet:1003 biolink:Disease Scalp defects-postaxial polydactyly syndrome HP:0001362 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0005696 biolink:PhenotypicFeature Orphanet:1005 biolink:Disease Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000252 biolink:PhenotypicFeature HP:0000262 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0005819 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006887 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0008855 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature Orphanet:994 biolink:Disease Fetal akinesia deformation sequence HP:0000028 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000476 biolink:PhenotypicFeature HP:0001059 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001989 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002304 biolink:PhenotypicFeature HP:0002375 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0003700 biolink:PhenotypicFeature HP:0005245 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0010489 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1001 biolink:Disease 2q37 microdeletion syndrome HP:0000003 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000535 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002779 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010761 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:1031 biolink:Disease Enamel-renal syndrome HP:0000112 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000705 biolink:PhenotypicFeature HP:0006286 biolink:PhenotypicFeature HP:0011073 biolink:PhenotypicFeature HP:0031428 biolink:PhenotypicFeature HP:0100530 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000805 biolink:PhenotypicFeature HP:0003127 biolink:PhenotypicFeature HP:0004727 biolink:PhenotypicFeature HP:0012365 biolink:PhenotypicFeature Orphanet:1028 biolink:Disease Amelo-onycho-hypohidrotic syndrome HP:0000232 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0001806 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0006286 biolink:PhenotypicFeature HP:0006288 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0011073 biolink:PhenotypicFeature Orphanet:1027 biolink:Disease Autosomal recessive amelia HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009812 biolink:PhenotypicFeature HP:0009827 biolink:PhenotypicFeature HP:0010494 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:1021 biolink:Disease Amaurosis-hypertrichosis syndrome HP:0000499 biolink:PhenotypicFeature HP:0000548 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0007758 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature Orphanet:1014 biolink:Disease Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome HP:0000815 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0007418 biolink:PhenotypicFeature Orphanet:1062 biolink:Disease Hereditary neurocutaneous malformation HP:0000707 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002277 biolink:PhenotypicFeature Orphanet:1055 biolink:Disease Congenital left ventricular aneurysm HP:0001711 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0005135 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012249 biolink:PhenotypicFeature Orphanet:1053 biolink:Disease Vein of Galen aneurysmal malformation HP:0002617 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature HP:0100784 biolink:PhenotypicFeature Orphanet:1052 biolink:Disease Mosaic variegated aneuploidy syndrome HP:0000003 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001682 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002247 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0002859 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0003003 biolink:PhenotypicFeature HP:0003560 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006721 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0010880 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0012126 biolink:PhenotypicFeature HP:0100650 biolink:PhenotypicFeature HP:0200008 biolink:PhenotypicFeature Orphanet:1040 biolink:Disease Metaphyseal anadysplasia HP:0000944 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0004039 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature Orphanet:1035 biolink:Disease Beta-mercaptolactate cysteine disulfiduria HP:0000069 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0100720 biolink:PhenotypicFeature Orphanet:931 biolink:Disease Acheiropodia HP:0000944 biolink:PhenotypicFeature HP:0002990 biolink:PhenotypicFeature HP:0003974 biolink:PhenotypicFeature HP:0003982 biolink:PhenotypicFeature HP:0004050 biolink:PhenotypicFeature HP:0005792 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0009813 biolink:PhenotypicFeature Orphanet:932 biolink:Disease Achondrogenesis HP:0000023 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000476 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003336 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004348 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature Orphanet:935 biolink:Disease Short-limb skeletal dysplasia with severe combined immunodeficiency HP:0000023 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001732 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0003085 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0004430 biolink:PhenotypicFeature HP:0004432 biolink:PhenotypicFeature HP:0005374 biolink:PhenotypicFeature HP:0011364 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:31 biolink:Disease Oxoglutaric aciduria HP:0000238 biolink:PhenotypicFeature HP:0000816 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0010286 biolink:PhenotypicFeature HP:0012401 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:921 biolink:Disease Abruzzo-Erickson syndrome HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008743 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0010751 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100542 biolink:PhenotypicFeature Orphanet:2297 biolink:Disease Insulin-resistance syndrome type A HP:0000823 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature Orphanet:869 biolink:Disease Triple A syndrome HP:0000846 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002571 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000830 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001430 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0007002 biolink:PhenotypicFeature HP:0007556 biolink:PhenotypicFeature HP:0010486 biolink:PhenotypicFeature Orphanet:929 biolink:Disease Achalasia-microcephaly syndrome HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002571 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature Orphanet:949 biolink:Disease Acrocraniofacial dysostosis HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000262 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000632 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002869 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004452 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0006288 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010034 biolink:PhenotypicFeature HP:0010097 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0011453 biolink:PhenotypicFeature HP:0011454 biolink:PhenotypicFeature Orphanet:37 biolink:Disease Acrodermatitis enteropathica HP:0000157 biolink:PhenotypicFeature HP:0000206 biolink:PhenotypicFeature HP:0000221 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000498 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001807 biolink:PhenotypicFeature HP:0001818 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008402 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature HP:0100825 biolink:PhenotypicFeature HP:0200020 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:950 biolink:Disease Acrodysostosis HP:0000028 biolink:PhenotypicFeature HP:0000055 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000858 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002818 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature HP:0010655 biolink:PhenotypicFeature HP:0010743 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:1795 biolink:Disease Peripheral dysostosis HP:0001156 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0010230 biolink:PhenotypicFeature Orphanet:939 biolink:Disease 3-hydroxyisobutyric aciduria HP:0000252 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003335 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature Orphanet:27 biolink:Disease Vitamin B12-unresponsive methylmalonic acidemia HP:0000083 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001972 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0002385 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature Orphanet:945 biolink:Disease Acalvaria HP:0000175 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001362 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature Orphanet:959 biolink:Disease Acro-renal-ocular syndrome HP:0000085 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0002818 biolink:PhenotypicFeature HP:0004712 biolink:PhenotypicFeature HP:0004736 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0009650 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0000015 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000588 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0004059 biolink:PhenotypicFeature HP:0007766 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0010109 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002948 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0005792 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature Orphanet:958 biolink:Disease Acro-renal-mandibular syndrome HP:0000202 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000813 biolink:PhenotypicFeature HP:0000882 biolink:PhenotypicFeature HP:0000883 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001839 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0003316 biolink:PhenotypicFeature HP:0003762 biolink:PhenotypicFeature HP:0004408 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006381 biolink:PhenotypicFeature HP:0006426 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0010295 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature Orphanet:955 biolink:Disease Hajdu-Cheney syndrome HP:0000023 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000277 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000704 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001718 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002688 biolink:PhenotypicFeature HP:0002691 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004331 biolink:PhenotypicFeature HP:0004586 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0008424 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0011305 biolink:PhenotypicFeature HP:0100670 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:952 biolink:Disease Acrofacial dysostosis, Weyers type HP:0000164 biolink:PhenotypicFeature HP:0000190 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000698 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0002006 biolink:PhenotypicFeature HP:0003502 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0006288 biolink:PhenotypicFeature HP:0006315 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0010557 biolink:PhenotypicFeature HP:0100797 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:957 biolink:Disease Acropectorovertebral dysplasia HP:0000175 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:972 biolink:Disease Hereditary continuous muscle fiber activity HP:0000776 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0003803 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:971 biolink:Disease Acrorenal syndrome HP:0000083 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0012210 biolink:PhenotypicFeature Orphanet:974 biolink:Disease Adams-Oliver syndrome HP:0000238 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0001057 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001362 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001641 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0001817 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002040 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002132 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002612 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0004050 biolink:PhenotypicFeature HP:0004935 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006970 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010624 biolink:PhenotypicFeature HP:0010760 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature Orphanet:973 biolink:Disease Congenital absence/hypoplasia of fingers excluding thumb, unilateral HP:0001163 biolink:PhenotypicFeature HP:0001799 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0009988 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature Orphanet:40 biolink:Disease Acromesomelic dysplasia, Maroteaux type HP:0000268 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003086 biolink:PhenotypicFeature HP:0003300 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003498 biolink:PhenotypicFeature HP:0004568 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0008422 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature Orphanet:968 biolink:Disease Acromesomelic dysplasia, Hunter-Thompson type HP:0001156 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0003028 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003086 biolink:PhenotypicFeature HP:0006011 biolink:PhenotypicFeature HP:0006014 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0008890 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:970 biolink:Disease Hereditary sensory and autonomic neuropathy type 2 HP:0000975 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001810 biolink:PhenotypicFeature HP:0001842 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0003028 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0008391 biolink:PhenotypicFeature Orphanet:969 biolink:Disease Acromicric dysplasia HP:0000160 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003300 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0005900 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:1174 biolink:Disease Cerebellar ataxia-ectodermal dysplasia syndrome HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature Orphanet:1166 biolink:Disease Congenital unilateral hypoplasia of depressor anguli oris HP:0000028 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000178 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004414 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0011333 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature Orphanet:1168 biolink:Disease Ataxia-oculomotor apraxia type 1 HP:0000707 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010747 biolink:PhenotypicFeature Orphanet:1173 biolink:Disease Cerebellar ataxia-hypogonadism syndrome HP:0000044 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000751 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000864 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature Orphanet:1180 biolink:Disease Ataxia-hypogonadism-choroidal dystrophy syndrome HP:0000044 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0007920 biolink:PhenotypicFeature Orphanet:1178 biolink:Disease Ataxia-tapetoretinal degeneration syndrome HP:0000639 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000547 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature Orphanet:1179 biolink:Disease Benign paroxysmal tonic upgaze of childhood with ataxia HP:0000496 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0002131 biolink:PhenotypicFeature Orphanet:1185 biolink:Disease Spinocerebellar ataxia-dysmorphism syndrome HP:0000256 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002816 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0003100 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature Orphanet:1186 biolink:Disease Infantile-onset spinocerebellar ataxia HP:0000365 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0002270 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:1182 biolink:Disease Spastic ataxia with congenital miosis HP:0000639 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002497 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0007728 biolink:PhenotypicFeature Orphanet:1184 biolink:Disease Ataxia-photosensitivity-short stature syndrome HP:0000164 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:1193 biolink:Disease Atkin-Flaitz syndrome HP:0000053 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001593 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature Orphanet:1198 biolink:Disease Colonic atresia HP:0001539 biolink:PhenotypicFeature HP:0001543 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0003363 biolink:PhenotypicFeature HP:0004398 biolink:PhenotypicFeature HP:0010448 biolink:PhenotypicFeature HP:0100016 biolink:PhenotypicFeature HP:0100867 biolink:PhenotypicFeature Orphanet:1188 biolink:Disease Ataxia-deafness-intellectual disability syndrome HP:0000174 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature Orphanet:1214 biolink:Disease Progressive hemifacial atrophy HP:0000277 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001100 biolink:PhenotypicFeature Orphanet:1208 biolink:Disease Pulmonary atresia-intact ventricular septum syndrome HP:0001622 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001702 biolink:PhenotypicFeature HP:0004935 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature Orphanet:1203 biolink:Disease Duodenal atresia HP:0001561 biolink:PhenotypicFeature HP:0001732 biolink:PhenotypicFeature HP:0001734 biolink:PhenotypicFeature HP:0002247 biolink:PhenotypicFeature HP:0004414 biolink:PhenotypicFeature Orphanet:1200 biolink:Disease Burn-McKeown syndrome HP:0000174 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004502 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature Orphanet:1225 biolink:Disease Baller-Gerold syndrome HP:0000069 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000244 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001029 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001180 biolink:PhenotypicFeature HP:0001191 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001545 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002669 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0006498 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0100542 biolink:PhenotypicFeature HP:0100589 biolink:PhenotypicFeature Orphanet:1221 biolink:Disease Cheilitis glandularis HP:0000179 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0010286 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature Orphanet:1216 biolink:Disease Autosomal dominant congenital benign spinal muscular atrophy HP:0001252 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0008964 biolink:PhenotypicFeature Orphanet:109 biolink:Disease Bannayan-Riley-Ruvalcaba syndrome HP:0000098 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001009 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0001724 biolink:PhenotypicFeature HP:0001933 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002250 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002858 biolink:PhenotypicFeature HP:0002890 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003764 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0004390 biolink:PhenotypicFeature HP:0005306 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0009023 biolink:PhenotypicFeature HP:0010784 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0012032 biolink:PhenotypicFeature HP:0100013 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature HP:0100641 biolink:PhenotypicFeature HP:0100761 biolink:PhenotypicFeature HP:0200008 biolink:PhenotypicFeature Orphanet:1228 biolink:Disease Banki syndrome HP:0001156 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature Orphanet:1227 biolink:Disease Bangstad syndrome HP:0000035 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000828 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001578 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0004097 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008193 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature Orphanet:1226 biolink:Disease Bamforth-Lazarus syndrome HP:0000175 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000851 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0008191 biolink:PhenotypicFeature HP:0011362 biolink:PhenotypicFeature Orphanet:1236 biolink:Disease Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000174 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0002006 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0009748 biolink:PhenotypicFeature HP:0010751 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100267 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100720 biolink:PhenotypicFeature Orphanet:1234 biolink:Disease Bartsocas-Papas syndrome HP:0000050 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000161 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000625 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007418 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0009755 biolink:PhenotypicFeature HP:0009756 biolink:PhenotypicFeature HP:0009777 biolink:PhenotypicFeature HP:0010185 biolink:PhenotypicFeature HP:0100240 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature HP:0200102 biolink:PhenotypicFeature Orphanet:1231 biolink:Disease Barber-Say syndrome HP:0000049 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002557 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0011224 biolink:PhenotypicFeature HP:0100783 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature HP:0200102 biolink:PhenotypicFeature Orphanet:1229 biolink:Disease Congenital intrauterine infection-like syndrome HP:0000252 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:1064 biolink:Disease Aniridia-renal agenesis-psychomotor retardation syndrome HP:0000122 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0001087 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001334 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0011498 biolink:PhenotypicFeature Orphanet:1067 biolink:Disease Aniridia-ptosis-intellectual disability-familial obesity syndrome HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008053 biolink:PhenotypicFeature HP:0009917 biolink:PhenotypicFeature Orphanet:1068 biolink:Disease Aniridia-intellectual disability syndrome HP:0000518 biolink:PhenotypicFeature HP:0000526 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0001083 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature Orphanet:1069 biolink:Disease Aniridia-absent patella syndrome HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000526 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0006498 biolink:PhenotypicFeature Orphanet:1071 biolink:Disease Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome HP:0000175 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000535 biolink:PhenotypicFeature HP:0000653 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000698 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001092 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001795 biolink:PhenotypicFeature HP:0001810 biolink:PhenotypicFeature HP:0001812 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0008391 biolink:PhenotypicFeature HP:0009755 biolink:PhenotypicFeature HP:0011819 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:1072 biolink:Disease Ankyloblepharon filiforme adnatum-cleft palate syndrome HP:0000175 biolink:PhenotypicFeature HP:0009755 biolink:PhenotypicFeature HP:0009775 biolink:PhenotypicFeature HP:0100267 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:1074 biolink:Disease Ankyloblepharon filiforme adnatum-imperforate anus syndrome HP:0000028 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0009755 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:1077 biolink:Disease Dental ankylosis HP:0000303 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature Orphanet:1078 biolink:Disease Thumb stiffness-brachydactyly-intellectual disability syndrome HP:0001163 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0009370 biolink:PhenotypicFeature Orphanet:1094 biolink:Disease Anonychia-microcephaly syndrome HP:0000164 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0001798 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0010624 biolink:PhenotypicFeature Orphanet:1104 biolink:Disease Anophthalmia plus syndrome HP:0000175 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000625 biolink:PhenotypicFeature HP:0002006 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002744 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004097 biolink:PhenotypicFeature HP:0005105 biolink:PhenotypicFeature HP:0009906 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:1106 biolink:Disease Microphthalmia with limb anomalies HP:0000028 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0001180 biolink:PhenotypicFeature HP:0001215 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001572 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001830 biolink:PhenotypicFeature HP:0001849 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002139 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002982 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003038 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005293 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005736 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0009748 biolink:PhenotypicFeature HP:0010650 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0011478 biolink:PhenotypicFeature HP:0100240 biolink:PhenotypicFeature Orphanet:83 biolink:Disease Antley-Bixler syndrome HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000262 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002980 biolink:PhenotypicFeature HP:0003070 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003275 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0012210 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1110 biolink:Disease Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000160 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002623 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0012303 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature Orphanet:1113 biolink:Disease Aphalangy-syndactyly-microcephaly syndrome HP:0000252 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001798 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0001802 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0001830 biolink:PhenotypicFeature HP:0001839 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009773 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010185 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1112 biolink:Disease Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome HP:0000055 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001555 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001798 biolink:PhenotypicFeature HP:0001839 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0004320 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0009767 biolink:PhenotypicFeature HP:0010173 biolink:PhenotypicFeature HP:0012621 biolink:PhenotypicFeature Orphanet:1116 biolink:Disease Aplasia cutis congenita-intestinal lymphangiectasia syndrome HP:0000545 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001362 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0003075 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0011362 biolink:PhenotypicFeature Orphanet:1118 biolink:Disease Fibular aplasia-ectrodactyly syndrome HP:0001171 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0006492 biolink:PhenotypicFeature Orphanet:1117 biolink:Disease Aplasia cutis-myopia syndrome HP:0000924 biolink:PhenotypicFeature HP:0001057 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001362 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0006934 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0011003 biolink:PhenotypicFeature HP:0012639 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:1122 biolink:Disease Ulnar hypoplasia-split foot syndrome HP:0001171 biolink:PhenotypicFeature HP:0001839 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature Orphanet:1120 biolink:Disease Lung agenesis-heart defect-thumb anomalies syndrome HP:0000772 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001646 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001772 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0006695 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010772 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature Orphanet:1133 biolink:Disease AREDYLD syndrome HP:0000069 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0004493 biolink:PhenotypicFeature HP:0004828 biolink:PhenotypicFeature HP:0005105 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0006288 biolink:PhenotypicFeature HP:0009912 biolink:PhenotypicFeature HP:0010311 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:1131 biolink:Disease X-linked mandibulofacial dysostosis HP:0000028 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004414 biolink:PhenotypicFeature HP:0009794 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:1144 biolink:Disease Arthrogryposis-like hand anomaly-sensorineural deafness syndrome HP:0000407 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature Orphanet:1150 biolink:Disease Arthrogryposis multiplex congenita-whistling face syndrome HP:0000160 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000201 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000346 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000366 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003043 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0010751 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature Orphanet:1149 biolink:Disease Kuskokwim syndrome HP:0000889 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0006498 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature Orphanet:1160 biolink:Disease Chylous ascites HP:0000501 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0002242 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature Orphanet:1352 biolink:Disease Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0000119 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000378 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001107 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001545 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0003974 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0010035 biolink:PhenotypicFeature Orphanet:1350 biolink:Disease Heart-hand syndrome type 2 HP:0000028 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001555 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003043 biolink:PhenotypicFeature HP:0003063 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0009908 biolink:PhenotypicFeature HP:0010044 biolink:PhenotypicFeature HP:0010047 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0100556 biolink:PhenotypicFeature Orphanet:1345 biolink:Disease Cardiomyopathy-cataract-hip spine disease syndrome HP:0000518 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0005108 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature Orphanet:1340 biolink:Disease Cardiofaciocutaneous syndrome HP:0000028 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000391 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001003 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001048 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002217 biolink:PhenotypicFeature HP:0002299 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006191 biolink:PhenotypicFeature HP:0007392 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008391 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0012719 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature HP:0200102 biolink:PhenotypicFeature Orphanet:1338 biolink:Disease Heart defect-tongue hamartoma-polysyndactyly syndrome HP:0000028 biolink:PhenotypicFeature HP:0001233 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001682 biolink:PhenotypicFeature HP:0011802 biolink:PhenotypicFeature HP:0100835 biolink:PhenotypicFeature Orphanet:1336 biolink:Disease Hyperkeratosis-hyperpigmentation syndrome HP:0000962 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:1335 biolink:Disease Pentalogy of Cantrell HP:0000047 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000766 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001697 biolink:PhenotypicFeature HP:0001748 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002323 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0011467 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:2856 biolink:Disease Persistent Müllerian duct syndrome HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000037 biolink:PhenotypicFeature Orphanet:1328 biolink:Disease Camurati-Engelmann disease HP:0000016 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0000940 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001533 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002818 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003063 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0005464 biolink:PhenotypicFeature HP:0005791 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0007552 biolink:PhenotypicFeature HP:0007807 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0012544 biolink:PhenotypicFeature HP:0100255 biolink:PhenotypicFeature HP:0100774 biolink:PhenotypicFeature Orphanet:1327 biolink:Disease Camptodactyly syndrome, Guadalajara type 1 HP:0000160 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006292 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0009907 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1326 biolink:Disease Camptodactyly syndrome, Guadalajara type 2 HP:0000066 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001885 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0003065 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004634 biolink:PhenotypicFeature HP:0005643 biolink:PhenotypicFeature HP:0011917 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1325 biolink:Disease Camptodactyly-taurinuria syndrome HP:0001836 biolink:PhenotypicFeature HP:0003166 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1323 biolink:Disease Camptodactyly-joint contractures-facial skeletal defects syndrome HP:0000160 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002648 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature Orphanet:1319 biolink:Disease Camptobrachydactyly HP:0001153 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1390 biolink:Disease Night blindness-skeletal anomalies-dysmorphism syndrome HP:0000174 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000366 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0001100 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008046 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0200021 biolink:PhenotypicFeature Orphanet:1393 biolink:Disease Cerebrocostomandibular syndrome HP:0000175 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0001591 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0030282 biolink:PhenotypicFeature HP:0000162 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0002779 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000003 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002132 biolink:PhenotypicFeature HP:0002324 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0010290 biolink:PhenotypicFeature Orphanet:1388 biolink:Disease Catel-Manzke syndrome HP:0000162 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0009467 biolink:PhenotypicFeature HP:0010285 biolink:PhenotypicFeature HP:0010508 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1389 biolink:Disease Cortical blindness-intellectual disability-polydactyly syndrome HP:0000174 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature Orphanet:1381 biolink:Disease Cataract-intellectual disability-anal atresia-urinary defects syndrome HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0008063 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature Orphanet:1387 biolink:Disease Cataract-intellectual disability-hypogonadism syndrome HP:0000028 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000221 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000692 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0009832 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:1377 biolink:Disease Cataract-microcornea syndrome HP:0000482 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001131 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature Orphanet:1380 biolink:Disease Cataract-nephropathy-encephalopathy syndrome HP:0000124 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:1375 biolink:Disease Cataract-hypertrichosis-intellectual disability syndrome HP:0000174 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature Orphanet:1373 biolink:Disease Cataract-aberrant oral frenula-growth delay syndrome HP:0000023 biolink:PhenotypicFeature HP:0000191 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001048 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature Orphanet:163 biolink:Disease Hereditary hyperferritinemia-cataract syndrome HP:0000518 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature Orphanet:1366 biolink:Disease Autosomal recessive palmoplantar keratoderma and congenital alopecia HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0007418 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0100679 biolink:PhenotypicFeature Orphanet:1368 biolink:Disease Cataract-ataxia-deafness syndrome HP:0000407 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008615 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature Orphanet:1355 biolink:Disease Congenital heart defect-round face-developmental delay syndrome HP:0000047 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000163 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature Orphanet:1361 biolink:Disease Carnosinase deficiency HP:0001249 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0003167 biolink:PhenotypicFeature Orphanet:1263 biolink:Disease Boomerang dysplasia HP:0000028 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0002818 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003063 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006492 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0008890 biolink:PhenotypicFeature HP:0010318 biolink:PhenotypicFeature HP:0011849 biolink:PhenotypicFeature HP:0100569 biolink:PhenotypicFeature HP:0100856 biolink:PhenotypicFeature Orphanet:1262 biolink:Disease Böök syndrome HP:0000164 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:1264 biolink:Disease Tricho-retino-dento-digital syndrome HP:0000164 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001118 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0010047 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0030056 biolink:PhenotypicFeature Orphanet:127 biolink:Disease Borjeson-Forssman-Lehmann syndrome HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001769 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0001836 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009748 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature Orphanet:1253 biolink:Disease Ascher syndrome HP:0000177 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000853 biolink:PhenotypicFeature HP:0004097 biolink:PhenotypicFeature HP:0012724 biolink:PhenotypicFeature Orphanet:1261 biolink:Disease Bonnemann-Meinecke-Reich syndrome HP:0000252 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:1259 biolink:Disease Blepharoptosis-myopia-ectopia lentis syndrome HP:0000269 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0001083 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0100798 biolink:PhenotypicFeature Orphanet:1241 biolink:Disease Bencze syndrome HP:0000176 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0005325 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature Orphanet:1240 biolink:Disease Metaphyseal acroscyphodysplasia HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000940 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0006059 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature Orphanet:1252 biolink:Disease Blepharonasofacial malformation syndrome HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000632 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001304 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0005338 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:1248 biolink:Disease Maxillonasal dysplasia HP:0000175 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0001065 biolink:PhenotypicFeature HP:0002000 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004609 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005288 biolink:PhenotypicFeature HP:0008428 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010185 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0011892 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature Orphanet:114 biolink:Disease Auriculoosteodysplasia HP:0000400 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0009906 biolink:PhenotypicFeature HP:0009907 biolink:PhenotypicFeature Orphanet:115 biolink:Disease Congenital contractural arachnodactyly HP:0000218 biolink:PhenotypicFeature HP:0001083 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0001533 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001724 biolink:PhenotypicFeature HP:0002247 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002803 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0008453 biolink:PhenotypicFeature HP:0008544 biolink:PhenotypicFeature HP:0009901 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1237 biolink:Disease Beemer-Ertbruggen syndrome HP:0000028 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001334 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature Orphanet:1307 biolink:Disease Distal limb deficiencies-micrognathia syndrome HP:0000028 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000171 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001839 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003028 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0012165 biolink:PhenotypicFeature Orphanet:1313 biolink:Disease Infantile choroidocerebral calcification syndrome HP:0000486 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:1314 biolink:Disease Symmetrical thalamic calcifications HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001612 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature Orphanet:1318 biolink:Disease Campomelia, Cumming type HP:0000003 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000476 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001732 biolink:PhenotypicFeature HP:0001737 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002242 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0008056 biolink:PhenotypicFeature HP:0010781 biolink:PhenotypicFeature HP:0100569 biolink:PhenotypicFeature HP:0100760 biolink:PhenotypicFeature Orphanet:1296 biolink:Disease Lambert syndrome HP:0000023 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0005248 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0009794 biolink:PhenotypicFeature Orphanet:1297 biolink:Disease Branchio-oculo-facial syndrome HP:0000003 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000579 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004464 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0008606 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0100268 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature HP:0100798 biolink:PhenotypicFeature Orphanet:1300 biolink:Disease Autosomal dominant popliteal pterygium syndrome HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000059 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008288 biolink:PhenotypicFeature HP:0009754 biolink:PhenotypicFeature HP:0009755 biolink:PhenotypicFeature HP:0009756 biolink:PhenotypicFeature HP:0100267 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:1305 biolink:Disease Feingold syndrome HP:0000202 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001734 biolink:PhenotypicFeature HP:0001743 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0002032 biolink:PhenotypicFeature HP:0002247 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0009468 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature Orphanet:1278 biolink:Disease Brachydactyly-preaxial hallux varus syndrome HP:0000174 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0004059 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010743 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature Orphanet:1292 biolink:Disease Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000023 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0001802 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0001817 biolink:PhenotypicFeature HP:0001857 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0008398 biolink:PhenotypicFeature HP:0009773 biolink:PhenotypicFeature HP:0009890 biolink:PhenotypicFeature HP:0100797 biolink:PhenotypicFeature HP:0100798 biolink:PhenotypicFeature Orphanet:1295 biolink:Disease Brachytelephalangy-dysmorphism-Kallmann syndrome HP:0000044 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000458 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005288 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010624 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature Orphanet:1270 biolink:Disease Bowen-Conradi syndrome HP:0000028 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008846 biolink:PhenotypicFeature HP:0008850 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1275 biolink:Disease Brachydactyly-elbow wrist dysplasia syndrome HP:0000256 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003063 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0009832 biolink:PhenotypicFeature Orphanet:1276 biolink:Disease Brachydactyly-arterial hypertension syndrome HP:0000822 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009803 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature Orphanet:1520 biolink:Disease Craniofrontonasal dysplasia HP:0000047 biolink:PhenotypicFeature HP:0000049 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000349 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002224 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004122 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006585 biolink:PhenotypicFeature HP:0006709 biolink:PhenotypicFeature HP:0008402 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0010719 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0200021 biolink:PhenotypicFeature Orphanet:1519 biolink:Disease SPECC1L-related hypertelorism syndrome HP:0000028 biolink:PhenotypicFeature HP:0000049 biolink:PhenotypicFeature HP:0000086 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000349 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006288 biolink:PhenotypicFeature HP:0010458 biolink:PhenotypicFeature HP:0010751 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature Orphanet:1517 biolink:Disease Cantú syndrome HP:0000154 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000885 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001869 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003300 biolink:PhenotypicFeature HP:0004634 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007665 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0010109 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature Orphanet:1516 biolink:Disease Non-syndromic bilambdoid and sagittal craniosynostosis HP:0000163 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000402 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001052 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature Orphanet:1528 biolink:Disease Craniotelencephalic dysplasia HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002139 biolink:PhenotypicFeature HP:0007330 biolink:PhenotypicFeature HP:0100842 biolink:PhenotypicFeature Orphanet:1527 biolink:Disease Craniosynostosis, Philadelphia type HP:0000637 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature Orphanet:1525 biolink:Disease Cranio-osteoarthropathy HP:0000239 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001070 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0004097 biolink:PhenotypicFeature HP:0100760 biolink:PhenotypicFeature Orphanet:1522 biolink:Disease Craniometaphyseal dysplasia HP:0000316 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001291 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0004493 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0011002 biolink:PhenotypicFeature Orphanet:1509 biolink:Disease Coxopodopatellar syndrome HP:0001385 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006498 biolink:PhenotypicFeature Orphanet:1508 biolink:Disease Coxoauricular syndrome HP:0000365 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature Orphanet:1507 biolink:Disease Autosomal recessive Robinow syndrome HP:0000003 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000902 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001052 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001641 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0001702 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002263 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003027 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0010296 biolink:PhenotypicFeature HP:0010297 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012815 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100798 biolink:PhenotypicFeature Orphanet:1506 biolink:Disease Thin ribs-tubular bones-dysmorphism syndrome HP:0000174 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0003100 biolink:PhenotypicFeature Orphanet:1515 biolink:Disease Cranioectodermal dysplasia HP:0000164 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000679 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000940 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature Orphanet:1514 biolink:Disease Craniodigital-intellectual disability syndrome HP:0000248 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature HP:0100874 biolink:PhenotypicFeature Orphanet:1513 biolink:Disease Craniodiaphyseal dysplasia HP:0000256 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000402 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004493 biolink:PhenotypicFeature HP:0005019 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature Orphanet:1512 biolink:Disease Crane-Heise syndrome HP:0000028 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000882 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0004331 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006660 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0100569 biolink:PhenotypicFeature Orphanet:1562 biolink:Disease Dacryocystitis-osteopoikilosis syndrome HP:0000620 biolink:PhenotypicFeature HP:0000632 biolink:PhenotypicFeature HP:0010739 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature Orphanet:1563 biolink:Disease Dahlberg-Borer-Newcomer syndrome HP:0000083 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000829 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001798 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature Orphanet:1553 biolink:Disease Curry-Jones syndrome HP:0000316 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000588 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001829 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0009602 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature Orphanet:1555 biolink:Disease Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome HP:0000028 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000262 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000391 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001545 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001732 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002676 biolink:PhenotypicFeature HP:0003246 biolink:PhenotypicFeature HP:0004450 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007469 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0009906 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0100761 biolink:PhenotypicFeature Orphanet:1571 biolink:Disease Knobloch syndrome HP:0000076 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000608 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000655 biolink:PhenotypicFeature HP:0001083 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001362 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001651 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002085 biolink:PhenotypicFeature HP:0004327 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0030037 biolink:PhenotypicFeature HP:0100764 biolink:PhenotypicFeature Orphanet:1551 biolink:Disease Familial benign copper deficiency HP:0000431 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002234 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005019 biolink:PhenotypicFeature HP:0008060 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0011967 biolink:PhenotypicFeature Orphanet:1566 biolink:Disease Dandy-Walker malformation-postaxial polydactyly syndrome HP:0001162 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature Orphanet:1568 biolink:Disease X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature Orphanet:1529 biolink:Disease Craniofacial-deafness-hand syndrome HP:0000160 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000564 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003049 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0009924 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1532 biolink:Disease Gómez-López-Hernández syndrome HP:0000233 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000262 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0002293 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100797 biolink:PhenotypicFeature Orphanet:1547 biolink:Disease Cryptomicrotia-brachydactyly-excess fingertip arch syndrome HP:0000048 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0001480 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0005872 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature Orphanet:1548 biolink:Disease Cryptorchidism-arachnodactyly-intellectual disability syndrome HP:0000035 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature Orphanet:1540 biolink:Disease Jackson-Weiss syndrome HP:0000174 biolink:PhenotypicFeature HP:0000262 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001783 biolink:PhenotypicFeature HP:0001839 biolink:PhenotypicFeature HP:0001841 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0009773 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0010743 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:1545 biolink:Disease Crisponi syndrome HP:0000160 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0002047 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100729 biolink:PhenotypicFeature Orphanet:1416 biolink:Disease Familial calcium pyrophosphate deposition HP:0000934 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0005108 biolink:PhenotypicFeature HP:0100593 biolink:PhenotypicFeature Orphanet:1412 biolink:Disease Tarsal-carpal coalition syndrome HP:0003028 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature Orphanet:1426 biolink:Disease Greenberg dysplasia HP:0000347 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001362 biolink:PhenotypicFeature HP:0001881 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004331 biolink:PhenotypicFeature HP:0006619 biolink:PhenotypicFeature HP:0008890 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0009106 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0011849 biolink:PhenotypicFeature HP:0100569 biolink:PhenotypicFeature HP:0100602 biolink:PhenotypicFeature Orphanet:1425 biolink:Disease Desbuquois syndrome HP:0000368 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001591 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002816 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003366 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature HP:0010318 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:1429 biolink:Disease Benign hereditary chorea HP:0001288 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:1394 biolink:Disease Cerebrofaciothoracic dysplasia HP:0000154 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000289 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000892 biolink:PhenotypicFeature HP:0000902 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:1398 biolink:Disease Isolated cerebellar agenesis HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:1397 biolink:Disease Hydrocephaly-cerebellar agenesis syndrome HP:0000518 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0012642 biolink:PhenotypicFeature Orphanet:1399 biolink:Disease Richards-Rundle syndrome HP:0000268 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002919 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature Orphanet:1410 biolink:Disease Uncombable hair syndrome HP:0001595 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002224 biolink:PhenotypicFeature HP:0002229 biolink:PhenotypicFeature HP:0002552 biolink:PhenotypicFeature HP:0011364 biolink:PhenotypicFeature Orphanet:1471 biolink:Disease Coloboma of macula-brachydactyly type B syndrome HP:0000104 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0001817 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005831 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100798 biolink:PhenotypicFeature Orphanet:1484 biolink:Disease Contractures-ectodermal dysplasia-cleft lip/palate syndrome HP:0000175 biolink:PhenotypicFeature HP:0000632 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:1486 biolink:Disease Lethal congenital contracture syndrome type 1 HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0003100 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009775 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature Orphanet:1487 biolink:Disease Cooks syndrome HP:0001156 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001810 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0008391 biolink:PhenotypicFeature HP:0010624 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature Orphanet:1490 biolink:Disease Corneal dystrophy-perceptive deafness syndrome HP:0000407 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001131 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature Orphanet:1493 biolink:Disease Vici syndrome HP:0000218 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000437 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001103 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001947 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0004315 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005374 biolink:PhenotypicFeature HP:0005999 biolink:PhenotypicFeature HP:0007314 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008348 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012110 biolink:PhenotypicFeature Orphanet:1495 biolink:Disease Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0000160 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1497 biolink:Disease X-linked complicated corpus callosum dysgenesis HP:0000252 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature Orphanet:1433 biolink:Disease Choroidal atrophy-alopecia syndrome HP:0000505 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0100804 biolink:PhenotypicFeature HP:0200102 biolink:PhenotypicFeature Orphanet:1435 biolink:Disease Xq21 microdeletion syndrome HP:0000407 biolink:PhenotypicFeature HP:0000532 biolink:PhenotypicFeature HP:0001139 biolink:PhenotypicFeature HP:0007945 biolink:PhenotypicFeature HP:0000375 biolink:PhenotypicFeature HP:0000381 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000830 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004458 biolink:PhenotypicFeature HP:0005109 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007675 biolink:PhenotypicFeature HP:0007937 biolink:PhenotypicFeature HP:0007994 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0030532 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001920 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0000863 biolink:PhenotypicFeature HP:0010625 biolink:PhenotypicFeature HP:0011748 biolink:PhenotypicFeature Orphanet:1436 biolink:Disease X-linked skeletal dysplasia-intellectual disability syndrome HP:0001156 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002949 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005107 biolink:PhenotypicFeature HP:0005819 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0008467 biolink:PhenotypicFeature Orphanet:1453 biolink:Disease Cleidorhizomelic syndrome HP:0000889 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004220 biolink:PhenotypicFeature HP:0005019 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature Orphanet:1454 biolink:Disease Joubert syndrome with hepatic defect HP:0000003 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000588 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0000864 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002085 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002612 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0002896 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0005248 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0100626 biolink:PhenotypicFeature Orphanet:190 biolink:Disease Coats disease HP:0000486 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000593 biolink:PhenotypicFeature HP:0001103 biolink:PhenotypicFeature HP:0008046 biolink:PhenotypicFeature HP:0008053 biolink:PhenotypicFeature Orphanet:1458 biolink:Disease CODAS syndrome HP:0000072 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001600 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003417 biolink:PhenotypicFeature HP:0004122 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005242 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0009901 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature Orphanet:1466 biolink:Disease COFS syndrome HP:0000135 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005105 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1842 biolink:Disease Bone dysplasia, lethal Holmgren type HP:0000348 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000773 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000940 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001591 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0005989 biolink:PhenotypicFeature HP:0008890 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100255 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:1852 biolink:Disease X-linked retinal dysplasia HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0007973 biolink:PhenotypicFeature HP:0008046 biolink:PhenotypicFeature Orphanet:1836 biolink:Disease Mesomelic dysplasia, Kantaputra type HP:0000772 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature HP:0003027 biolink:PhenotypicFeature HP:0003028 biolink:PhenotypicFeature HP:0003063 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005009 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1834 biolink:Disease Axial mesodermal dysplasia spectrum HP:0000008 biolink:PhenotypicFeature HP:0000069 biolink:PhenotypicFeature HP:0000078 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000921 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001140 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001743 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002242 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0012718 biolink:PhenotypicFeature HP:0012732 biolink:PhenotypicFeature HP:0100542 biolink:PhenotypicFeature Orphanet:1839 biolink:Disease Hereditary mucoepithelial dysplasia HP:0000008 biolink:PhenotypicFeature HP:0000014 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000221 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001131 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0012732 biolink:PhenotypicFeature Orphanet:1837 biolink:Disease Ulna metaphyseal dysplasia syndrome HP:0000164 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature Orphanet:1871 biolink:Disease Progressive cone dystrophy HP:0000505 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000551 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature Orphanet:1873 biolink:Disease Jalili syndrome HP:0000505 biolink:PhenotypicFeature HP:0000551 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000705 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0011073 biolink:PhenotypicFeature Orphanet:1872 biolink:Disease Cone rod dystrophy HP:0000505 biolink:PhenotypicFeature HP:0000551 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature Orphanet:1860 biolink:Disease Thanatophoric dysplasia type 1 HP:0000077 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0000946 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002282 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002676 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002980 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003097 biolink:PhenotypicFeature HP:0003185 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0007392 biolink:PhenotypicFeature HP:0008909 biolink:PhenotypicFeature HP:0010880 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100781 biolink:PhenotypicFeature Orphanet:1858 biolink:Disease Skeletal dysplasia-epilepsy-short stature syndrome HP:0000164 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002866 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature Orphanet:1861 biolink:Disease Thoracic dysplasia-hydrocephalus syndrome HP:0000405 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001334 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature Orphanet:1799 biolink:Disease Familial developmental dysphasia HP:0002357 biolink:PhenotypicFeature HP:0002474 biolink:PhenotypicFeature HP:0002546 biolink:PhenotypicFeature Orphanet:1801 biolink:Disease Kyphomelic dysplasia HP:0000347 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000895 biolink:PhenotypicFeature HP:0000907 biolink:PhenotypicFeature HP:0000921 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003180 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003498 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0010561 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature Orphanet:1802 biolink:Disease Ghosal hematodiaphyseal dysplasia HP:0000944 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004493 biolink:PhenotypicFeature HP:0005019 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature Orphanet:1803 biolink:Disease Thoracomelic dysplasia HP:0000311 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000773 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001591 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0005019 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature Orphanet:1788 biolink:Disease Acrofacial dysostosis, Rodríguez type HP:0000130 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0001180 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002139 biolink:PhenotypicFeature HP:0002410 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0003038 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006495 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature Orphanet:1790 biolink:Disease Hypomandibular faciocranial dysostosis HP:0000008 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000452 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000588 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002777 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005439 biolink:PhenotypicFeature HP:0005607 biolink:PhenotypicFeature HP:0008749 biolink:PhenotypicFeature HP:0010295 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:1794 biolink:Disease Oculomaxillofacial dysostosis HP:0000161 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000366 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0002006 biolink:PhenotypicFeature HP:0003063 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008056 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature HP:0200102 biolink:PhenotypicFeature Orphanet:1798 biolink:Disease Dysostosis, Stanescu type HP:0000158 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004474 biolink:PhenotypicFeature HP:0005105 biolink:PhenotypicFeature HP:0005665 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100777 biolink:PhenotypicFeature Orphanet:1812 biolink:Disease Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010624 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:1825 biolink:Disease Epiphyseal dysplasia-hearing loss-dysmorphism syndrome HP:0000154 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature HP:0100542 biolink:PhenotypicFeature Orphanet:1806 biolink:Disease Ectodermal dysplasia-blindness syndrome HP:0000164 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000647 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001131 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:1808 biolink:Disease Hidrotic ectodermal dysplasia, Christianson-Fourie type HP:0000653 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002215 biolink:PhenotypicFeature HP:0002223 biolink:PhenotypicFeature HP:0002225 biolink:PhenotypicFeature HP:0008401 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature Orphanet:1809 biolink:Disease Hidrotic ectodermal dysplasia, Halal type HP:0000078 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000561 biolink:PhenotypicFeature HP:0000858 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002223 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0002552 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0007502 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature Orphanet:1811 biolink:Disease Odontomicronychial dysplasia HP:0000164 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001799 biolink:PhenotypicFeature HP:0001816 biolink:PhenotypicFeature HP:0006323 biolink:PhenotypicFeature HP:0006337 biolink:PhenotypicFeature HP:0008383 biolink:PhenotypicFeature Orphanet:1757 biolink:Disease Fibular dimelia-diplopodia syndrome HP:0009556 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0030736 biolink:PhenotypicFeature Orphanet:1756 biolink:Disease Caudal duplication HP:0000028 biolink:PhenotypicFeature HP:0000036 biolink:PhenotypicFeature HP:0000073 biolink:PhenotypicFeature HP:0000078 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0003762 biolink:PhenotypicFeature HP:0005107 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0009791 biolink:PhenotypicFeature HP:0100561 biolink:PhenotypicFeature HP:0100589 biolink:PhenotypicFeature HP:0100668 biolink:PhenotypicFeature Orphanet:1682 biolink:Disease Arterial dissection-lentiginosis syndrome HP:0000995 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0005294 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature Orphanet:1671 biolink:Disease Split cord malformation type I HP:0002230 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0100563 biolink:PhenotypicFeature Orphanet:1667 biolink:Disease Wolcott-Rallison syndrome HP:0000857 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0002654 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0006554 biolink:PhenotypicFeature HP:0100255 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001738 biolink:PhenotypicFeature HP:0001891 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0001993 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0011787 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0100827 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001719 biolink:PhenotypicFeature HP:0002480 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature Orphanet:1665 biolink:Disease Sporadic fetal brain disruption sequence HP:0000252 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000834 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0006887 biolink:PhenotypicFeature HP:0010515 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature Orphanet:1661 biolink:Disease X-linked corneal dermoid HP:0000505 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000615 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature Orphanet:1786 biolink:Disease Acrofacial dysostosis, Catania type HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002006 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:1784 biolink:Disease Acrofrontofacionasal dysostosis HP:0000047 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000625 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001088 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001798 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0004132 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:1782 biolink:Disease Dysosteosclerosis HP:0000256 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001291 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0003301 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004493 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0008479 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0100670 biolink:PhenotypicFeature Orphanet:1780 biolink:Disease Thakker-Donnai syndrome HP:0000126 biolink:PhenotypicFeature HP:0000143 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001334 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001669 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0004602 biolink:PhenotypicFeature Orphanet:1777 biolink:Disease Temtamy syndrome HP:0000174 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001724 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature Orphanet:1766 biolink:Disease Dysequilibrium syndrome HP:0000478 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:1765 biolink:Disease Dyschondrosteosis-nephritis syndrome HP:0000093 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0002986 biolink:PhenotypicFeature HP:0003031 biolink:PhenotypicFeature HP:0003067 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008845 biolink:PhenotypicFeature Orphanet:1574 biolink:Disease Retinal degeneration-nanophthalmos-glaucoma syndrome HP:0000505 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature Orphanet:726 biolink:Disease Alpers-Huttenlocher syndrome HP:0000252 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002191 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002385 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:1573 biolink:Disease Hypotrichosis with juvenile macular degeneration HP:0000608 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001480 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002299 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002813 biolink:PhenotypicFeature HP:0003777 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008002 biolink:PhenotypicFeature HP:0100326 biolink:PhenotypicFeature Orphanet:3196 biolink:Disease Steroid dehydrogenase deficiency-dental anomalies syndrome HP:0000682 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature Orphanet:859 biolink:Disease Transcobalamin deficiency HP:0001873 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0001980 biolink:PhenotypicFeature HP:0002720 biolink:PhenotypicFeature HP:0002850 biolink:PhenotypicFeature HP:0003220 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004315 biolink:PhenotypicFeature HP:0012120 biolink:PhenotypicFeature Orphanet:1979 biolink:Disease Lipodystrophy due to peptidic growth factors deficiency HP:0000160 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001002 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0002621 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0003119 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0010980 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature HP:0100679 biolink:PhenotypicFeature Orphanet:742 biolink:Disease Prolidase deficiency HP:0000294 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000370 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002211 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002715 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007473 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012786 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:1659 biolink:Disease Dermatoleukodystrophy HP:0000962 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0012639 biolink:PhenotypicFeature Orphanet:1660 biolink:Disease Dermoodontodysplasia HP:0000303 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0000968 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0002552 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0100797 biolink:PhenotypicFeature HP:0100798 biolink:PhenotypicFeature Orphanet:1657 biolink:Disease Dermatoosteolysis, Kirghizian type HP:0000164 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0000940 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001810 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0008391 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:1658 biolink:Disease Absence of fingerprints-congenital milia syndrome HP:0000963 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0009775 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1653 biolink:Disease Dentin dysplasia HP:0000682 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0100777 biolink:PhenotypicFeature Orphanet:1606 biolink:Disease 1p36 deletion syndrome HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000055 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000464 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000878 biolink:PhenotypicFeature HP:0000892 biolink:PhenotypicFeature HP:0000902 biolink:PhenotypicFeature HP:0001009 biolink:PhenotypicFeature HP:0001107 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001734 biolink:PhenotypicFeature HP:0001743 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001829 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002242 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002715 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003006 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0004378 biolink:PhenotypicFeature HP:0005113 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0011228 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:1647 biolink:Disease Oculocerebrocutaneous syndrome HP:0000028 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000625 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000921 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001362 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002006 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002334 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010185 biolink:PhenotypicFeature HP:0010609 biolink:PhenotypicFeature HP:0100777 biolink:PhenotypicFeature Orphanet:1997 biolink:Disease Blepharo-cheilo-odontic syndrome HP:0000316 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000698 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002744 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007651 biolink:PhenotypicFeature HP:0009743 biolink:PhenotypicFeature HP:0011362 biolink:PhenotypicFeature HP:0012905 biolink:PhenotypicFeature HP:0200040 biolink:PhenotypicFeature Orphanet:1995 biolink:Disease Cleft lip-retinopathy syndrome HP:0000488 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:2003 biolink:Disease Cleft lip/palate-deafness-sacral lipoma syndrome HP:0000324 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0002744 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0005273 biolink:PhenotypicFeature HP:0008625 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0012033 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature Orphanet:2001 biolink:Disease Cleft lip/palate-intestinal malrotation-cardiopathy syndrome HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002744 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0010297 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature Orphanet:2004 biolink:Disease Laryngotracheoesophageal cleft HP:0008751 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001615 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002835 biolink:PhenotypicFeature HP:0010307 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0030842 biolink:PhenotypicFeature HP:0031162 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature Orphanet:2008 biolink:Disease Acrocardiofacial syndrome HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000836 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001660 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001718 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0001829 biolink:PhenotypicFeature HP:0001839 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100589 biolink:PhenotypicFeature Orphanet:2007 biolink:Disease Alar cartilages hypoplasia-coloboma-telecanthus syndrome HP:0000316 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0003191 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:2013 biolink:Disease Cleft palate-large ears-small head syndrome HP:0000047 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004428 biolink:PhenotypicFeature HP:0006709 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature Orphanet:2010 biolink:Disease Cleft palate-stapes fixation-oligodontia syndrome HP:0000175 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003028 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0008513 biolink:PhenotypicFeature HP:0009702 biolink:PhenotypicFeature HP:0012225 biolink:PhenotypicFeature Orphanet:2017 biolink:Disease Sternal cleft HP:0000464 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature Orphanet:2016 biolink:Disease Cleft palate-lateral synechia syndrome HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0010285 biolink:PhenotypicFeature Orphanet:2021 biolink:Disease Fibrochondrogenesis HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000773 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000882 biolink:PhenotypicFeature HP:0000885 biolink:PhenotypicFeature HP:0000940 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001591 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:2019 biolink:Disease Femur-fibula-ulna complex HP:0001171 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003041 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005792 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature Orphanet:2024 biolink:Disease Hereditary gingival fibromatosis HP:0000169 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature Orphanet:2022 biolink:Disease Endocardial fibroelastosis HP:0000028 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000830 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001706 biolink:PhenotypicFeature HP:0001723 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:1952 biolink:Disease Epiphyseal stippling-osteoclastic hyperplasia syndrome HP:0000601 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002648 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0003417 biolink:PhenotypicFeature HP:0005716 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0010655 biolink:PhenotypicFeature HP:0011849 biolink:PhenotypicFeature HP:0100670 biolink:PhenotypicFeature Orphanet:1954 biolink:Disease Congenital lethal erythroderma HP:0000958 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0007381 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature Orphanet:1955 biolink:Disease Spinocerebellar ataxia type 34 HP:0000324 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:1962 biolink:Disease Exostoses-anetodermia-brachydactyly type E syndrome HP:0002762 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0005863 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature Orphanet:1964 biolink:Disease Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006682 biolink:PhenotypicFeature HP:0006689 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0012722 biolink:PhenotypicFeature Orphanet:1968 biolink:Disease Flat face-microstomia-ear anomaly syndrome HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000535 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003189 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0009896 biolink:PhenotypicFeature HP:0009906 biolink:PhenotypicFeature HP:0009912 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0010751 biolink:PhenotypicFeature HP:0011830 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1969 biolink:Disease Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome HP:0000463 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001555 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004122 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007513 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0010290 biolink:PhenotypicFeature Orphanet:1970 biolink:Disease Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001099 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001821 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0006887 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature Orphanet:1972 biolink:Disease Lethal faciocardiomelic dysplasia HP:0000160 biolink:PhenotypicFeature HP:0000171 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0003038 biolink:PhenotypicFeature HP:0004059 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0005736 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0009237 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature Orphanet:1973 biolink:Disease Faciocardiorenal syndrome HP:0000085 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001704 biolink:PhenotypicFeature HP:0001706 biolink:PhenotypicFeature Orphanet:1974 biolink:Disease Autosomal recessive faciodigitogenital syndrome HP:0000049 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000349 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000472 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0011359 biolink:PhenotypicFeature HP:0200021 biolink:PhenotypicFeature Orphanet:1980 biolink:Disease Bilateral striopallidodentate calcinosis HP:0000252 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001933 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature Orphanet:1986 biolink:Disease Gollop-Wolfgang complex HP:0004058 biolink:PhenotypicFeature HP:0005772 biolink:PhenotypicFeature HP:0006495 biolink:PhenotypicFeature HP:0010443 biolink:PhenotypicFeature HP:0100257 biolink:PhenotypicFeature Orphanet:1988 biolink:Disease Femoral-facial syndrome HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000040 biolink:PhenotypicFeature HP:0000113 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000902 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001841 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature HP:0003097 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005107 biolink:PhenotypicFeature HP:0005772 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0100542 biolink:PhenotypicFeature Orphanet:1993 biolink:Disease Pai syndrome HP:0000161 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000190 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0004122 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006866 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0010609 biolink:PhenotypicFeature HP:0100582 biolink:PhenotypicFeature Orphanet:1913 biolink:Disease Fetal trimethadione syndrome HP:0000047 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001669 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:1912 biolink:Disease Fetal hydantoin syndrome HP:0000028 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000235 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:1918 biolink:Disease Fetal minoxidil syndrome HP:0000028 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature Orphanet:1911 biolink:Disease Cocaine embryofetopathy HP:0000079 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0011100 biolink:PhenotypicFeature HP:0100657 biolink:PhenotypicFeature Orphanet:1919 biolink:Disease Phenobarbital embryopathy HP:0000286 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0008386 biolink:PhenotypicFeature HP:0012808 biolink:PhenotypicFeature HP:0100333 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0006265 biolink:PhenotypicFeature Orphanet:1917 biolink:Disease Fetal methylmercury syndrome HP:0000252 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:294 biolink:Disease Fetal cytomegalovirus syndrome HP:0000407 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature Orphanet:1914 biolink:Disease Vitamin K antagonist embryofetopathy HP:0000158 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008056 biolink:PhenotypicFeature HP:0008420 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010655 biolink:PhenotypicFeature Orphanet:1927 biolink:Disease Emery-Nelson syndrome HP:0000218 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006070 biolink:PhenotypicFeature HP:0009626 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1926 biolink:Disease Diabetic embryopathy HP:0000008 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000073 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000464 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001195 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001669 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0001732 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004414 biolink:PhenotypicFeature HP:0005107 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008056 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0010301 biolink:PhenotypicFeature HP:0010318 biolink:PhenotypicFeature Orphanet:1923 biolink:Disease Methimazole embryofetopathy HP:0000047 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001362 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002032 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0100589 biolink:PhenotypicFeature Orphanet:1920 biolink:Disease Toluene embryopathy HP:0000028 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0100542 biolink:PhenotypicFeature Orphanet:1824 biolink:Disease Lowry-Wood syndrome HP:0000252 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002656 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003083 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0010582 biolink:PhenotypicFeature HP:0100643 biolink:PhenotypicFeature Orphanet:1822 biolink:Disease Dysplasia epiphysealis hemimelica HP:0001387 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0003367 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0008812 biolink:PhenotypicFeature HP:0010582 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature HP:0100777 biolink:PhenotypicFeature Orphanet:1937 biolink:Disease Eng-Strom syndrome HP:0000767 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1882 biolink:Disease Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome HP:0000535 biolink:PhenotypicFeature HP:0000632 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001810 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008391 biolink:PhenotypicFeature HP:0012265 biolink:PhenotypicFeature Orphanet:1883 biolink:Disease Ectodermal dysplasia-sensorineural deafness syndrome HP:0000407 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002299 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007529 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0009183 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:1875 biolink:Disease Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome HP:0000135 biolink:PhenotypicFeature HP:0000137 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0003741 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature Orphanet:1879 biolink:Disease Melorheostosis with osteopoikilosis HP:0000822 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0001012 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0010001 biolink:PhenotypicFeature HP:0010739 biolink:PhenotypicFeature Orphanet:1807 biolink:Disease Focal facial dermal dysplasia type III HP:0000286 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000632 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0005338 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0007776 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0009743 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature HP:0010751 biolink:PhenotypicFeature HP:0010935 biolink:PhenotypicFeature HP:0100781 biolink:PhenotypicFeature Orphanet:1891 biolink:Disease Intellectual disability-spasticity-ectrodactyly syndrome HP:0001249 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature Orphanet:1816 biolink:Disease Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome HP:0000047 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0007513 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009721 biolink:PhenotypicFeature Orphanet:1818 biolink:Disease Ectodermal dysplasia, trichoodontoonychial type HP:0000366 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0006709 biolink:PhenotypicFeature HP:0007521 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:1896 biolink:Disease EEC syndrome HP:0000047 biolink:PhenotypicFeature HP:0000068 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000359 biolink:PhenotypicFeature HP:0000370 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000498 biolink:PhenotypicFeature HP:0000535 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000621 biolink:PhenotypicFeature HP:0000632 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000679 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000778 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000830 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001803 biolink:PhenotypicFeature HP:0001839 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002217 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0003764 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006709 biolink:PhenotypicFeature HP:0007513 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0010311 biolink:PhenotypicFeature HP:0100257 biolink:PhenotypicFeature HP:0200020 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0100533 biolink:PhenotypicFeature Orphanet:1897 biolink:Disease EEM syndrome HP:0000486 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0001592 biolink:PhenotypicFeature HP:0002223 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0007754 biolink:PhenotypicFeature HP:0100257 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature Orphanet:1892 biolink:Disease Ectrodactyly-polydactyly syndrome HP:0001156 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0009773 biolink:PhenotypicFeature HP:0100257 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1895 biolink:Disease Edinburgh malformation syndrome HP:0000160 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001088 biolink:PhenotypicFeature HP:0001238 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0008056 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature Orphanet:1909 biolink:Disease Indomethacin embryofetopathy HP:0000003 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000091 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature Orphanet:1910 biolink:Disease Fetal iodine syndrome HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001264 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature Orphanet:1906 biolink:Disease Fetal valproate spectrum disorder HP:0000160 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature Orphanet:1908 biolink:Disease Aminopterin/methotrexate embryofetopathy HP:0000175 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001696 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002323 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003027 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004935 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0010301 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:2141 biolink:Disease Diaphragmatic defect-limb deficiency-skull defect syndrome HP:0000008 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000782 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004331 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006492 biolink:PhenotypicFeature HP:0006495 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0006507 biolink:PhenotypicFeature HP:0100560 biolink:PhenotypicFeature Orphanet:2143 biolink:Disease Donnai-Barrow syndrome HP:0000093 biolink:PhenotypicFeature HP:0000130 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000349 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000813 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature Orphanet:2145 biolink:Disease Craniosynostosis, Herrmann-Opitz type HP:0000175 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000262 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000795 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0010935 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:2149 biolink:Disease Nodular neuronal heterotopia HP:0001250 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature Orphanet:2128 biolink:Disease Isolated hemihyperplasia HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001528 biolink:PhenotypicFeature HP:0001555 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature Orphanet:2138 biolink:Disease 46,XX ovotesticular disorder of sex development HP:0000008 biolink:PhenotypicFeature HP:0000022 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000130 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010459 biolink:PhenotypicFeature HP:0012856 biolink:PhenotypicFeature HP:0100779 biolink:PhenotypicFeature Orphanet:2139 biolink:Disease Hernández-Aguirre Negrete syndrome HP:0000154 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature Orphanet:2994 biolink:Disease Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008046 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009775 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:2119 biolink:Disease HEC syndrome HP:0000519 biolink:PhenotypicFeature HP:0000600 biolink:PhenotypicFeature HP:0000615 biolink:PhenotypicFeature HP:0001334 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001706 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0008046 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0100673 biolink:PhenotypicFeature Orphanet:2123 biolink:Disease Diffuse neonatal hemangiomatosis HP:0000083 biolink:PhenotypicFeature HP:0000142 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0007461 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0100761 biolink:PhenotypicFeature Orphanet:2111 biolink:Disease Cystic hamartoma of lung and kidney HP:0000003 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature Orphanet:2114 biolink:Disease Hip dysplasia, Beukes type HP:0001385 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0004348 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006429 biolink:PhenotypicFeature HP:0009107 biolink:PhenotypicFeature HP:0010574 biolink:PhenotypicFeature HP:0011849 biolink:PhenotypicFeature Orphanet:2115 biolink:Disease Harrod syndrome HP:0000003 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003043 biolink:PhenotypicFeature HP:0003189 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature Orphanet:2117 biolink:Disease Hartsfield syndrome HP:0000175 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0006870 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:2107 biolink:Disease Hall-Riggs syndrome HP:0000154 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002217 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0100874 biolink:PhenotypicFeature Orphanet:2104 biolink:Disease Dysmorphism-pectus carinatum-joint laxity syndrome HP:0000272 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature Orphanet:2110 biolink:Disease Hallux varus-preaxial polysyndactyly syndrome HP:0001852 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature Orphanet:2108 biolink:Disease Hallermann-Streiff syndrome HP:0000028 biolink:PhenotypicFeature HP:0000157 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000162 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000235 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000535 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000653 biolink:PhenotypicFeature HP:0000695 biolink:PhenotypicFeature HP:0000773 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000896 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002779 biolink:PhenotypicFeature HP:0003363 biolink:PhenotypicFeature HP:0003508 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0010719 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:380 biolink:Disease Greig cephalopolysyndactyly syndrome HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001830 biolink:PhenotypicFeature HP:0001841 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature Orphanet:2098 biolink:Disease Acromesomelic dysplasia, Grebe type HP:0001156 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003038 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0005736 biolink:PhenotypicFeature HP:0005914 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0100242 biolink:PhenotypicFeature HP:0100387 biolink:PhenotypicFeature Orphanet:2101 biolink:Disease Grubben-de Cock-Borghgraef syndrome HP:0000164 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001338 biolink:PhenotypicFeature HP:0004097 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:376 biolink:Disease Gordon syndrome HP:0000028 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:2092 biolink:Disease Focal dermal hypoplasia HP:0000003 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000370 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000773 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000894 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001018 biolink:PhenotypicFeature HP:0001083 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001540 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001839 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002247 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0004930 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0006554 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0007676 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0008839 biolink:PhenotypicFeature HP:0009124 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0011847 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0012740 biolink:PhenotypicFeature HP:0045026 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0100560 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100670 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature Orphanet:2097 biolink:Disease Grant syndrome HP:0000174 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0001024 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004331 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0011912 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100729 biolink:PhenotypicFeature Orphanet:2095 biolink:Disease Gorlin-Chaudhry-Moss syndrome HP:0000164 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000636 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000647 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004440 biolink:PhenotypicFeature HP:0008497 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0010940 biolink:PhenotypicFeature Orphanet:2085 biolink:Disease Glaucoma-sleep apnea syndrome HP:0000501 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature Orphanet:2084 biolink:Disease Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome HP:0000501 biolink:PhenotypicFeature HP:0001083 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:2091 biolink:Disease Multinodular goiter-cystic kidney-polydactyly syndrome HP:0000003 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001841 biolink:PhenotypicFeature HP:0005987 biolink:PhenotypicFeature Orphanet:2090 biolink:Disease GMS syndrome HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000558 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature Orphanet:2083 biolink:Disease Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0002057 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:2077 biolink:Disease German syndrome HP:0000028 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002375 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:2078 biolink:Disease Geroderma osteodysplastica HP:0000272 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002953 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004568 biolink:PhenotypicFeature HP:0004586 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0011849 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:2074 biolink:Disease Gemignani syndrome HP:0000035 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature Orphanet:2075 biolink:Disease Genitopalatocardiac syndrome HP:0000003 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000037 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0005264 biolink:PhenotypicFeature HP:0008668 biolink:PhenotypicFeature HP:0100016 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:2069 biolink:Disease Gastrocutaneous syndrome HP:0000316 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001003 biolink:PhenotypicFeature HP:0001677 biolink:PhenotypicFeature HP:0002036 biolink:PhenotypicFeature HP:0004398 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature Orphanet:2065 biolink:Disease Galloway-Mowat syndrome HP:0000093 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002036 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002410 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0005108 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100720 biolink:PhenotypicFeature Orphanet:2067 biolink:Disease GAPO syndrome HP:0000232 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000535 biolink:PhenotypicFeature HP:0000653 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002234 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000563 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0010609 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000798 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001555 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002621 biolink:PhenotypicFeature HP:0004331 biolink:PhenotypicFeature HP:0100607 biolink:PhenotypicFeature Orphanet:2063 biolink:Disease Splenogonadal fusion-limb defects-micrognathia syndrome HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0006283 biolink:PhenotypicFeature HP:0006333 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0100560 biolink:PhenotypicFeature Orphanet:2064 biolink:Disease Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome HP:0000508 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0005626 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature Orphanet:2059 biolink:Disease Fryns syndrome HP:0000003 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000161 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000813 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002247 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0006709 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012303 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:2057 biolink:Disease Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome HP:0000179 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000458 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001291 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature Orphanet:1791 biolink:Disease Frontofacionasal dysplasia HP:0000175 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000456 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000636 biolink:PhenotypicFeature HP:0001088 biolink:PhenotypicFeature HP:0001140 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0002006 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004132 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007036 biolink:PhenotypicFeature HP:0007708 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:2050 biolink:Disease Cole-Carpenter syndrome HP:0000262 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001334 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006367 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:2048 biolink:Disease Foix-Chavany-Marie syndrome HP:0001172 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:2047 biolink:Disease Flynn-Aird syndrome HP:0000408 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002621 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012062 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:2045 biolink:Disease FLOTCH syndrome HP:0000492 biolink:PhenotypicFeature HP:0000498 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000653 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0100533 biolink:PhenotypicFeature Orphanet:2824 biolink:Disease Paraplegia-intellectual disability-hyperkeratosis syndrome HP:0000340 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0003189 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature HP:0010620 biolink:PhenotypicFeature Orphanet:2036 biolink:Disease Scalp-ear-nipple syndrome HP:0000385 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0001965 biolink:PhenotypicFeature HP:0006709 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0011251 biolink:PhenotypicFeature HP:0011272 biolink:PhenotypicFeature HP:0100783 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature HP:0000073 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000625 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0005580 biolink:PhenotypicFeature HP:0012330 biolink:PhenotypicFeature Orphanet:2031 biolink:Disease Hepatic fibrosis-renal cysts-intellectual disability syndrome HP:0000003 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000162 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0002612 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:2028 biolink:Disease Juvenile hyaline fibromatosis HP:0000169 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0000940 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0005876 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:2027 biolink:Disease Gingival fibromatosis-progressive deafness syndrome HP:0000169 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature Orphanet:2026 biolink:Disease Gingival fibromatosis-hypertrichosis syndrome HP:0000164 biolink:PhenotypicFeature HP:0000169 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:2025 biolink:Disease Gingival fibromatosis-facial dysmorphism syndrome HP:0000169 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0002263 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature Orphanet:2432 biolink:Disease Macrosomia-microphthalmia-cleft palate syndrome HP:0000235 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002648 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0009099 biolink:PhenotypicFeature Orphanet:2435 biolink:Disease Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome HP:0000252 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature Orphanet:296 biolink:Disease Ollier disease HP:0000826 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002763 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0005701 biolink:PhenotypicFeature HP:0006765 biolink:PhenotypicFeature HP:0100242 biolink:PhenotypicFeature HP:0100761 biolink:PhenotypicFeature HP:0100764 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:2438 biolink:Disease Hand-foot-genital syndrome HP:0000010 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000074 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000130 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000795 biolink:PhenotypicFeature HP:0000813 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0006110 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0008080 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010034 biolink:PhenotypicFeature HP:0010105 biolink:PhenotypicFeature HP:0010109 biolink:PhenotypicFeature HP:0011937 biolink:PhenotypicFeature Orphanet:2440 biolink:Disease Isolated split hand-split foot malformation HP:0000407 biolink:PhenotypicFeature HP:0000526 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0004050 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0012165 biolink:PhenotypicFeature Orphanet:2456 biolink:Disease Familial supernumerary nipples HP:0000119 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature Orphanet:2471 biolink:Disease McDonough syndrome HP:0000028 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0010318 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature Orphanet:2378 biolink:Disease Laurin-Sandrow syndrome HP:0000028 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000366 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001841 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002000 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0009556 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0010503 biolink:PhenotypicFeature HP:0010689 biolink:PhenotypicFeature HP:0003974 biolink:PhenotypicFeature HP:0100524 biolink:PhenotypicFeature Orphanet:2379 biolink:Disease Early-onset parkinsonism-intellectual disability syndrome HP:0000256 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002396 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:2387 biolink:Disease Leukonychia totalis HP:0000498 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0009720 biolink:PhenotypicFeature Orphanet:2408 biolink:Disease Lowe-Kohn-Cohen syndrome HP:0000112 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0012732 biolink:PhenotypicFeature Orphanet:2575 biolink:Disease Cystic fibrosis-gastritis-megaloblastic anemia syndrome HP:0000047 biolink:PhenotypicFeature HP:0000049 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000807 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001877 biolink:PhenotypicFeature HP:0001889 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0004826 biolink:PhenotypicFeature HP:0005263 biolink:PhenotypicFeature Orphanet:2412 biolink:Disease Dislocation of the hip-dysmorphism syndrome HP:0000023 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001702 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0004097 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0010759 biolink:PhenotypicFeature HP:0011328 biolink:PhenotypicFeature Orphanet:2429 biolink:Disease Macrocephaly-spastic paraplegia-dysmorphism syndrome HP:0000154 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0100874 biolink:PhenotypicFeature Orphanet:2323 biolink:Disease Sanjad-Sakati syndrome HP:0000028 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000829 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002905 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005374 biolink:PhenotypicFeature HP:0005686 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008056 biolink:PhenotypicFeature HP:0008198 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0008846 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:2322 biolink:Disease Kabuki syndrome HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000074 biolink:PhenotypicFeature HP:0000081 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002000 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003316 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004736 biolink:PhenotypicFeature HP:0005338 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005819 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0007655 biolink:PhenotypicFeature HP:0008428 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009237 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100267 biolink:PhenotypicFeature HP:0100542 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:2337 biolink:Disease Non-epidermolytic palmoplantar keratoderma HP:0000989 biolink:PhenotypicFeature HP:0007435 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:2325 biolink:Disease Epidermolysis bullosa simplex with anodontia/hypodontia HP:0000271 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0001083 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0003473 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100797 biolink:PhenotypicFeature HP:0100798 biolink:PhenotypicFeature Orphanet:494 biolink:Disease Keratoderma hereditarium mutilans HP:0000044 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0002143 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0007460 biolink:PhenotypicFeature HP:0007465 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0009775 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:2348 biolink:Disease Familial partial lipodystrophy, Dunnigan type HP:0000147 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000991 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001677 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002621 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003635 biolink:PhenotypicFeature HP:0003712 biolink:PhenotypicFeature HP:0005339 biolink:PhenotypicFeature HP:0006288 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0012084 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0100601 biolink:PhenotypicFeature HP:0100607 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature Orphanet:2292 biolink:Disease Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome HP:0003307 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature Orphanet:2291 biolink:Disease Congenital velopharyngeal incompetence HP:0000174 biolink:PhenotypicFeature HP:0000220 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000600 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature Orphanet:2305 biolink:Disease Isotretinoin syndrome HP:0000175 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:2295 biolink:Disease Familial articular hypermobility syndrome HP:0000023 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0003834 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature Orphanet:2310 biolink:Disease Absence deformity of leg-cataract syndrome HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0009816 biolink:PhenotypicFeature Orphanet:2321 biolink:Disease Jung syndrome HP:0000078 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002777 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature Orphanet:2315 biolink:Disease Johanson-Blizzard syndrome HP:0000047 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000142 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000632 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001092 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001545 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001651 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001732 biolink:PhenotypicFeature HP:0001738 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003075 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005288 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010460 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature Orphanet:457 biolink:Disease Harlequin ichthyosis HP:0000364 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001019 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0001829 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002047 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0007431 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0012472 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:2261 biolink:Disease Hypospadias-intellectual disability, Goldblatt type syndrome HP:0000047 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:2287 biolink:Disease Fused mandibular incisors HP:0000164 biolink:PhenotypicFeature HP:0006288 biolink:PhenotypicFeature Orphanet:2289 biolink:Disease Neuronal intranuclear inclusion disease HP:0000600 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:2285 biolink:Disease Primary basilar invagination HP:0000470 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000600 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0002691 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0005758 biolink:PhenotypicFeature Orphanet:2238 biolink:Disease Familial isolated hypoparathyroidism HP:0000112 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000829 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0100530 biolink:PhenotypicFeature Orphanet:2241 biolink:Disease Megacystis-microcolon-intestinal hypoperistalsis syndrome HP:0000003 biolink:PhenotypicFeature HP:0000021 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000072 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0004388 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0100544 biolink:PhenotypicFeature HP:0100771 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:2228 biolink:Disease Hypodontia-dysplasia of nails syndrome HP:0000147 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000698 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0001808 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0006349 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0008402 biolink:PhenotypicFeature HP:0012746 biolink:PhenotypicFeature Orphanet:2229 biolink:Disease Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome HP:0000147 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0100362 biolink:PhenotypicFeature Orphanet:2256 biolink:Disease Fibulo-ulnar hypoplasia-renal anomalies syndrome HP:0000028 biolink:PhenotypicFeature HP:0000049 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001195 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006492 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010242 biolink:PhenotypicFeature HP:0100016 biolink:PhenotypicFeature Orphanet:2257 biolink:Disease Primary pulmonary hypoplasia HP:0002089 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0030829 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001651 biolink:PhenotypicFeature HP:0001684 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002778 biolink:PhenotypicFeature HP:0003065 biolink:PhenotypicFeature HP:0040045 biolink:PhenotypicFeature HP:0000071 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature HP:0030966 biolink:PhenotypicFeature HP:0032094 biolink:PhenotypicFeature Orphanet:2246 biolink:Disease Cerebellar hypoplasia-tapetoretinal degeneration syndrome HP:0000505 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:2252 biolink:Disease Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome HP:0000047 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0005725 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature Orphanet:2196 biolink:Disease Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement HP:0000023 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001116 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0100530 biolink:PhenotypicFeature Orphanet:2222 biolink:Disease Hypertrichosis lanuginosa congenita HP:0000164 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature Orphanet:2216 biolink:Disease Maternal hyperthermia-induced birth defects HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008056 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:2200 biolink:Disease Focal palmoplantar and gingival keratoderma HP:0000212 biolink:PhenotypicFeature HP:0000222 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0007497 biolink:PhenotypicFeature HP:0008392 biolink:PhenotypicFeature HP:0008399 biolink:PhenotypicFeature Orphanet:2158 biolink:Disease Histidinuria-renal tubular defect syndrome HP:0000343 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002927 biolink:PhenotypicFeature HP:0005819 biolink:PhenotypicFeature HP:0005844 biolink:PhenotypicFeature HP:0008666 biolink:PhenotypicFeature Orphanet:2167 biolink:Disease Holzgreve syndrome HP:0000175 biolink:PhenotypicFeature HP:0000262 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001195 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0010295 biolink:PhenotypicFeature HP:0010297 biolink:PhenotypicFeature HP:0100016 biolink:PhenotypicFeature HP:0100569 biolink:PhenotypicFeature Orphanet:2166 biolink:Disease Holoprosencephaly-postaxial polydactyly syndrome HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000835 biolink:PhenotypicFeature HP:0000864 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0005990 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009914 biolink:PhenotypicFeature HP:0010650 biolink:PhenotypicFeature HP:0100542 biolink:PhenotypicFeature HP:0100596 biolink:PhenotypicFeature Orphanet:2165 biolink:Disease Holoprosencephaly-caudal dysgenesis syndrome HP:0000078 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000161 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002818 biolink:PhenotypicFeature HP:0004059 biolink:PhenotypicFeature HP:0009914 biolink:PhenotypicFeature HP:0010662 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature Orphanet:2163 biolink:Disease Holoprosencephaly-craniosynostosis syndrome HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008479 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:2750 biolink:Disease Orofaciodigital syndrome type 1 HP:0000161 biolink:PhenotypicFeature HP:0000180 biolink:PhenotypicFeature HP:0000187 biolink:PhenotypicFeature HP:0000191 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000199 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001829 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0004097 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature HP:0011802 biolink:PhenotypicFeature HP:0000003 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001732 biolink:PhenotypicFeature HP:0001737 biolink:PhenotypicFeature HP:0001738 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002299 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0100267 biolink:PhenotypicFeature HP:0100612 biolink:PhenotypicFeature Orphanet:2760 biolink:Disease OSLAM syndrome HP:0000670 biolink:PhenotypicFeature HP:0001874 biolink:PhenotypicFeature HP:0002669 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005518 biolink:PhenotypicFeature Orphanet:2762 biolink:Disease Progressive osseous heteroplasia HP:0000828 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0010766 biolink:PhenotypicFeature HP:0011987 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0100242 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:2768 biolink:Disease Blount disease HP:0002982 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0006491 biolink:PhenotypicFeature HP:0010591 biolink:PhenotypicFeature HP:0040188 biolink:PhenotypicFeature Orphanet:2732 biolink:Disease Olivopontocerebellar atrophy-deafness syndrome HP:0000365 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002542 biolink:PhenotypicFeature Orphanet:661 biolink:Disease Congenital central hypoventilation syndrome HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002270 biolink:PhenotypicFeature HP:0003005 biolink:PhenotypicFeature HP:0003006 biolink:PhenotypicFeature HP:0006747 biolink:PhenotypicFeature HP:0100006 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:2741 biolink:Disease Ophthalmomandibulomelic dysplasia HP:0000485 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003027 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0004348 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0005446 biolink:PhenotypicFeature HP:0006055 biolink:PhenotypicFeature HP:0006439 biolink:PhenotypicFeature HP:0006441 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0009773 biolink:PhenotypicFeature HP:0012478 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:2720 biolink:Disease Oculocerebral hypopigmentation syndrome, Preus type HP:0000091 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001107 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001874 biolink:PhenotypicFeature HP:0001931 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007513 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0010662 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0011364 biolink:PhenotypicFeature Orphanet:2722 biolink:Disease Odonto-onycho dysplasia-alopecia syndrome HP:0000535 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000692 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature Orphanet:2724 biolink:Disease Odontomatosis-aortae esophagus stenosis syndrome HP:0001399 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002621 biolink:PhenotypicFeature HP:0011068 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature Orphanet:2725 biolink:Disease Eye defects-arachnodactyly-cardiopathy syndrome HP:0000175 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004493 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0009832 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:2715 biolink:Disease Severe oculo-renal-cerebellar syndrome HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001264 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008046 biolink:PhenotypicFeature HP:0009748 biolink:PhenotypicFeature HP:0010620 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature Orphanet:2717 biolink:Disease Oculotrichoanal syndrome HP:0000316 biolink:PhenotypicFeature HP:0000456 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000579 biolink:PhenotypicFeature HP:0000636 biolink:PhenotypicFeature HP:0001126 biolink:PhenotypicFeature HP:0001545 biolink:PhenotypicFeature HP:0002025 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature Orphanet:2719 biolink:Disease Oculocerebral hypopigmentation syndrome, Cross type HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000071 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0001107 biolink:PhenotypicFeature HP:0001139 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002305 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005561 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008056 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:675 biolink:Disease Annular pancreas HP:0001734 biolink:PhenotypicFeature HP:0005250 biolink:PhenotypicFeature HP:0100867 biolink:PhenotypicFeature Orphanet:2798 biolink:Disease Pachygyria-intellectual disability-epilepsy syndrome HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:678 biolink:Disease Papillon-Lefèvre syndrome HP:0000164 biolink:PhenotypicFeature HP:0000166 biolink:PhenotypicFeature HP:0000230 biolink:PhenotypicFeature HP:0000704 biolink:PhenotypicFeature HP:0000972 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001073 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0006308 biolink:PhenotypicFeature HP:0006323 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0011132 biolink:PhenotypicFeature HP:0100523 biolink:PhenotypicFeature HP:0100838 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature Orphanet:2807 biolink:Disease Papilloma of choroid plexus HP:0000238 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0012639 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0200022 biolink:PhenotypicFeature Orphanet:2792 biolink:Disease Otofaciocervical syndrome HP:0000218 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0200021 biolink:PhenotypicFeature Orphanet:2790 biolink:Disease Endosteal hyperostosis, Worth type HP:0000303 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004493 biolink:PhenotypicFeature HP:0005019 biolink:PhenotypicFeature HP:0005789 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0100789 biolink:PhenotypicFeature HP:0100861 biolink:PhenotypicFeature HP:0100923 biolink:PhenotypicFeature Orphanet:2796 biolink:Disease Pachydermoperiostosis HP:0000280 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0000976 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001051 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0004398 biolink:PhenotypicFeature HP:0005561 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0010541 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0011362 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature HP:0100760 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:2793 biolink:Disease Otoonychoperoneal syndrome HP:0000268 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000940 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0008577 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0009756 biolink:PhenotypicFeature HP:0009906 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature Orphanet:667 biolink:Disease Autosomal recessive malignant osteopetrosis HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001641 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002148 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002257 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0004370 biolink:PhenotypicFeature HP:0004415 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006323 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007807 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0010543 biolink:PhenotypicFeature HP:0010719 biolink:PhenotypicFeature HP:0011002 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:2779 biolink:Disease Osteopathia striata-pigmentary dermopathy-white forelock syndrome HP:0000940 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0002211 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0007412 biolink:PhenotypicFeature HP:0010740 biolink:PhenotypicFeature HP:0100670 biolink:PhenotypicFeature Orphanet:2787 biolink:Disease Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome HP:0000252 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature Orphanet:1306 biolink:Disease Buschke-Ollendorff syndrome HP:0010739 biolink:PhenotypicFeature HP:0100898 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0003330 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0005789 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0007513 biolink:PhenotypicFeature HP:0100774 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0100324 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0007488 biolink:PhenotypicFeature HP:0009055 biolink:PhenotypicFeature HP:0009121 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0010554 biolink:PhenotypicFeature Orphanet:2774 biolink:Disease Multicentric carpo-tarsal osteolysis with or without nephropathy HP:0000093 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0001225 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001495 biolink:PhenotypicFeature HP:0001504 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003100 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:2770 biolink:Disease Nasu-Hakola disease HP:0000238 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000727 biolink:PhenotypicFeature HP:0000734 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000751 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002488 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0009124 biolink:PhenotypicFeature HP:0010524 biolink:PhenotypicFeature HP:0012062 biolink:PhenotypicFeature HP:0012719 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:2777 biolink:Disease Osteomesopyknosis HP:0001939 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0100861 biolink:PhenotypicFeature Orphanet:2776 biolink:Disease Autosomal recessive distal osteolysis syndrome HP:0000164 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:2868 biolink:Disease Short stature-valvular heart disease-characteristic facies syndrome HP:0000164 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003498 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0100729 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:2875 biolink:Disease Phakomatosis pigmentovascularis HP:0000324 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0001052 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:2863 biolink:Disease Short stature-wormian bones-dextrocardia syndrome HP:0000028 biolink:PhenotypicFeature HP:0000187 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000288 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000437 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000830 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001651 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0012854 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:2866 biolink:Disease Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome HP:0000407 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature Orphanet:2850 biolink:Disease Alopecia-intellectual disability syndrome HP:0000252 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005105 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature HP:0200012 biolink:PhenotypicFeature Orphanet:2840 biolink:Disease Pelvic dysplasia-arthrogryposis of lower limbs syndrome HP:0000592 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0003100 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008839 biolink:PhenotypicFeature HP:0010767 biolink:PhenotypicFeature Orphanet:2842 biolink:Disease Penoscrotal transposition HP:0000047 biolink:PhenotypicFeature HP:0000049 biolink:PhenotypicFeature HP:0000069 biolink:PhenotypicFeature HP:0000078 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000795 biolink:PhenotypicFeature HP:0000811 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0006443 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0010751 biolink:PhenotypicFeature HP:0100600 biolink:PhenotypicFeature Orphanet:2836 biolink:Disease PEHO syndrome HP:0000174 biolink:PhenotypicFeature HP:0000177 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002132 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0006829 biolink:PhenotypicFeature HP:0007366 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012398 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature Orphanet:2833 biolink:Disease Stiff skin syndrome HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0003119 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0100679 biolink:PhenotypicFeature Orphanet:2835 biolink:Disease Pectus excavatum-macrocephaly-dysplastic nails syndrome HP:0000256 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature Orphanet:2815 biolink:Disease Spastic paraparesis-deafness syndrome HP:0000135 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:2808 biolink:Disease Laryngeal abductor paralysis HP:0001601 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature Orphanet:2812 biolink:Disease Parana hard skin syndrome HP:0000311 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006596 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature Orphanet:1848 biolink:Disease Renal agenesis, bilateral HP:0000008 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001563 biolink:PhenotypicFeature HP:0001958 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002242 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0005107 biolink:PhenotypicFeature HP:0010497 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature HP:0100589 biolink:PhenotypicFeature Orphanet:2940 biolink:Disease Porencephaly HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002132 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:2935 biolink:Disease Crossed polysyndactyly HP:0000288 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature Orphanet:2930 biolink:Disease Cronkhite-Canada syndrome HP:0000221 biolink:PhenotypicFeature HP:0000224 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0001810 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0002232 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002597 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002672 biolink:PhenotypicFeature HP:0003003 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0004390 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0008391 biolink:PhenotypicFeature HP:0012126 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature HP:0200008 biolink:PhenotypicFeature Orphanet:2928 biolink:Disease Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome HP:0000221 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100805 biolink:PhenotypicFeature Orphanet:2924 biolink:Disease Isolated polycystic liver disease HP:0001732 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003573 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0006557 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature Orphanet:2916 biolink:Disease Postaxial polydactyly-dental and vertebral anomalies syndrome HP:0000175 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000632 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001572 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0002948 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005988 biolink:PhenotypicFeature HP:0008479 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0009906 biolink:PhenotypicFeature HP:0010935 biolink:PhenotypicFeature HP:0100672 biolink:PhenotypicFeature Orphanet:2911 biolink:Disease Poland syndrome HP:0001555 biolink:PhenotypicFeature HP:0006709 biolink:PhenotypicFeature HP:0007519 biolink:PhenotypicFeature HP:0009751 biolink:PhenotypicFeature HP:0010311 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0006008 biolink:PhenotypicFeature HP:0009700 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000070 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000081 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000766 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000773 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0000921 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001651 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002488 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003063 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004050 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0006714 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0009594 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature HP:0100013 biolink:PhenotypicFeature Orphanet:2907 biolink:Disease Hereditary acrokeratotic poikiloderma HP:0000091 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000211 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0000230 biolink:PhenotypicFeature HP:0000262 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000795 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0000972 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001096 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001810 biolink:PhenotypicFeature HP:0002745 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006323 biolink:PhenotypicFeature HP:0006740 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0007759 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008391 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0010296 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100587 biolink:PhenotypicFeature HP:0100669 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:2891 biolink:Disease Pili torti-developmental delay-neurological abnormalities syndrome HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0003777 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0010719 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature HP:0200102 biolink:PhenotypicFeature Orphanet:2889 biolink:Disease Pili torti HP:0000164 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0002299 biolink:PhenotypicFeature HP:0003777 biolink:PhenotypicFeature HP:0010719 biolink:PhenotypicFeature Orphanet:2885 biolink:Disease Piebald trait-neurologic defects syndrome HP:0000407 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001029 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001100 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature Orphanet:2884 biolink:Disease Piebaldism HP:0002211 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007544 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0002226 biolink:PhenotypicFeature HP:0002227 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001100 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002648 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature Orphanet:2879 biolink:Disease Phocomelia, Schinzel type HP:0000028 biolink:PhenotypicFeature HP:0000151 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0001180 biolink:PhenotypicFeature HP:0001362 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001849 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0002986 biolink:PhenotypicFeature HP:0002990 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0003041 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003498 biolink:PhenotypicFeature HP:0003982 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0008517 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009103 biolink:PhenotypicFeature HP:0100257 biolink:PhenotypicFeature Orphanet:2878 biolink:Disease Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome HP:0000343 biolink:PhenotypicFeature HP:0000402 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0003031 biolink:PhenotypicFeature HP:0004059 biolink:PhenotypicFeature HP:0005105 biolink:PhenotypicFeature HP:0005288 biolink:PhenotypicFeature HP:0005792 biolink:PhenotypicFeature HP:0006420 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0009813 biolink:PhenotypicFeature HP:0009896 biolink:PhenotypicFeature HP:0009906 biolink:PhenotypicFeature HP:0010038 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0100257 biolink:PhenotypicFeature Orphanet:2487 biolink:Disease Lower limb malformation-hypospadias syndrome HP:0000047 biolink:PhenotypicFeature HP:0000069 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001743 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature Orphanet:2489 biolink:Disease Upper limb defect-eye and ear abnormalities syndrome HP:0000365 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0009739 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature Orphanet:2491 biolink:Disease Müllerian duct anomalies-limb anomalies syndrome HP:0000252 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003762 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005792 biolink:PhenotypicFeature HP:0006495 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature Orphanet:2492 biolink:Disease FATCO syndrome HP:0001171 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0004050 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature Orphanet:2497 biolink:Disease Upper limb mesomelic dysplasia HP:0002986 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature Orphanet:2500 biolink:Disease Acrogeria HP:0000347 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007392 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:2501 biolink:Disease Metaphyseal chondrodysplasia, Spahr type HP:0000164 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003498 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0005871 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006385 biolink:PhenotypicFeature HP:0006409 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0100255 biolink:PhenotypicFeature Orphanet:2473 biolink:Disease McKusick-Kaufman syndrome HP:0000003 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000807 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001830 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0012227 biolink:PhenotypicFeature HP:0030010 biolink:PhenotypicFeature HP:0100779 biolink:PhenotypicFeature Orphanet:2475 biolink:Disease White forelock with malformations HP:0000174 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002211 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature Orphanet:2476 biolink:Disease Dysraphism-cleft lip/palate-limb reduction defects syndrome HP:0000175 biolink:PhenotypicFeature HP:0001543 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002323 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:2477 biolink:Disease Megalencephaly HP:0000040 biolink:PhenotypicFeature HP:0000053 biolink:PhenotypicFeature HP:0000235 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature Orphanet:2479 biolink:Disease Megalocornea-intellectual disability syndrome HP:0000194 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000485 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000593 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007676 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0010508 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0100693 biolink:PhenotypicFeature Orphanet:2481 biolink:Disease Neurocutaneous melanocytosis HP:0000567 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0005603 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature Orphanet:2483 biolink:Disease Melkersson-Rosenthal syndrome HP:0000158 biolink:PhenotypicFeature HP:0000221 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0010471 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0100539 biolink:PhenotypicFeature HP:0100825 biolink:PhenotypicFeature Orphanet:2533 biolink:Disease Microcephaly-deafness-intellectual disability syndrome HP:0000174 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000378 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002057 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:2549 biolink:Disease Oculoauriculovertebral spectrum with radial defects HP:0000076 biolink:PhenotypicFeature HP:0000078 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000359 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003778 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0004452 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0006511 biolink:PhenotypicFeature HP:0006695 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0008056 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0008706 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:2536 biolink:Disease Microcornea-glaucoma-absent frontal sinuses syndrome HP:0000286 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0002688 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100789 biolink:PhenotypicFeature Orphanet:2572 biolink:Disease Spastic ataxia-corneal dystrophy syndrome HP:0000519 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001131 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002497 biolink:PhenotypicFeature HP:0002503 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature Orphanet:2570 biolink:Disease Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0000252 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0002103 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002324 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0010662 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100625 biolink:PhenotypicFeature Orphanet:2574 biolink:Disease Moynahan syndrome HP:0000135 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature Orphanet:2573 biolink:Disease Moyamoya disease HP:0001009 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature Orphanet:2508 biolink:Disease Corpus callosum agenesis-abnormal genitalia syndrome HP:0000023 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002445 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature Orphanet:2505 biolink:Disease Multiple benign circumferential skin creases on limbs HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000045 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006768 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0007522 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0100560 biolink:PhenotypicFeature Orphanet:2514 biolink:Disease Autosomal dominant primary microcephaly HP:0000252 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0001137 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature Orphanet:2510 biolink:Disease Micro syndrome HP:0000028 biolink:PhenotypicFeature HP:0000060 biolink:PhenotypicFeature HP:0000064 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000480 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0100542 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature Orphanet:2522 biolink:Disease Microcephaly-cervical spine fusion anomalies syndrome HP:0000047 biolink:PhenotypicFeature HP:0000069 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002176 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002949 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0004312 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0010620 biolink:PhenotypicFeature HP:0012371 biolink:PhenotypicFeature Orphanet:2518 biolink:Disease Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000252 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature Orphanet:2528 biolink:Disease Microcephaly-microcornea syndrome, Seemanova type HP:0000135 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002191 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:2523 biolink:Disease Microcephaly-brain defect-spasticity-hypernatremia syndrome HP:0000252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:2632 biolink:Disease Langer mesomelic dysplasia HP:0000218 biolink:PhenotypicFeature HP:0001191 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003067 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0005026 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0006492 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0100864 biolink:PhenotypicFeature Orphanet:2633 biolink:Disease Mesomelic dysplasia, Nievergelt type HP:0000248 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003027 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0008845 biolink:PhenotypicFeature HP:0010781 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100729 biolink:PhenotypicFeature Orphanet:2617 biolink:Disease Microcephalic primordial dwarfism, Montreal type HP:0000028 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0004399 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0009721 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0011362 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0200115 biolink:PhenotypicFeature Orphanet:2631 biolink:Disease Mesomelic dwarfism-cleft palate-camptodactyly syndrome HP:0000175 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0003027 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0005916 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0010781 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:2643 biolink:Disease Microcephalic primordial dwarfism, Toriello type HP:0000252 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002850 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004315 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature Orphanet:2645 biolink:Disease Osteoglosphonic dysplasia HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0006283 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0011849 biolink:PhenotypicFeature Orphanet:2634 biolink:Disease Mesomelic dwarfism, Reinhardt-Pfeiffer type HP:0000486 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0003038 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003048 biolink:PhenotypicFeature HP:0003498 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0010781 biolink:PhenotypicFeature Orphanet:2639 biolink:Disease Fibular aplasia-complex brachydactyly syndrome HP:0000446 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0002818 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006492 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature Orphanet:2578 biolink:Disease Mayer-Rokitansky-Küster-Hauser syndrome type 2 HP:0000027 biolink:PhenotypicFeature HP:0000086 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000813 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008684 biolink:PhenotypicFeature Orphanet:2579 biolink:Disease Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome HP:0001251 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature Orphanet:575 biolink:Disease Muckle-Wells syndrome HP:0000078 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000366 biolink:PhenotypicFeature HP:0000408 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001769 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001917 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0004299 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0011107 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100534 biolink:PhenotypicFeature Orphanet:2576 biolink:Disease Mulibrey nanism HP:0000256 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002680 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature Orphanet:2616 biolink:Disease 3M syndrome HP:0000047 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000883 biolink:PhenotypicFeature HP:0000888 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0003100 biolink:PhenotypicFeature HP:0003173 biolink:PhenotypicFeature HP:0003175 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004570 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0008839 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0100625 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature Orphanet:2585 biolink:Disease Ataxia-pancytopenia syndrome HP:0000252 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001874 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001908 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0004311 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004820 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0011869 biolink:PhenotypicFeature Orphanet:2701 biolink:Disease Noonan syndrome-like disorder with loose anagen hair HP:0000028 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005108 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:2698 biolink:Disease Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome HP:0001820 biolink:PhenotypicFeature HP:0008527 biolink:PhenotypicFeature HP:0032541 biolink:PhenotypicFeature HP:0000972 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0000410 biolink:PhenotypicFeature HP:0045059 biolink:PhenotypicFeature Orphanet:2695 biolink:Disease Bifid nose HP:0000316 biolink:PhenotypicFeature HP:0011803 biolink:PhenotypicFeature Orphanet:2690 biolink:Disease Neutropenia-monocytopenia-deafness syndrome HP:0000407 biolink:PhenotypicFeature HP:0001874 biolink:PhenotypicFeature HP:0004311 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature Orphanet:2712 biolink:Disease Oculofaciocardiodental syndrome HP:0000164 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000456 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000692 biolink:PhenotypicFeature HP:0001083 biolink:PhenotypicFeature HP:0001169 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001765 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0004969 biolink:PhenotypicFeature HP:0006315 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0010327 biolink:PhenotypicFeature HP:0010339 biolink:PhenotypicFeature HP:0011090 biolink:PhenotypicFeature Orphanet:2710 biolink:Disease Oculodentodigital dysplasia HP:0000011 biolink:PhenotypicFeature HP:0000161 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000187 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000366 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000525 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000598 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000679 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0000940 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002212 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002217 biolink:PhenotypicFeature HP:0002299 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0003067 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004437 biolink:PhenotypicFeature HP:0004495 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006323 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0009843 biolink:PhenotypicFeature HP:0010109 biolink:PhenotypicFeature HP:0010761 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100774 biolink:PhenotypicFeature Orphanet:2704 biolink:Disease Ochoa syndrome HP:0000010 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000796 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature Orphanet:2668 biolink:Disease Nephropathy-deafness-hyperparathyroidism syndrome HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000843 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0012062 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature Orphanet:2663 biolink:Disease Nathalie syndrome HP:0000407 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature Orphanet:2662 biolink:Disease Keipert syndrome HP:0000256 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0002263 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0009836 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0010109 biolink:PhenotypicFeature HP:0010185 biolink:PhenotypicFeature HP:0010624 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:2678 biolink:Disease Neurofibromatosis type 6 HP:0001480 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature Orphanet:2673 biolink:Disease Neurofaciodigitorenal syndrome HP:0000028 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000288 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001131 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0009832 biolink:PhenotypicFeature HP:0009896 biolink:PhenotypicFeature HP:0009912 biolink:PhenotypicFeature HP:0010650 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011830 biolink:PhenotypicFeature Orphanet:1475 biolink:Disease Renal coloboma syndrome HP:0000003 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000480 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000588 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001093 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature Orphanet:3301 biolink:Disease Tetraamelia-multiple malformations syndrome HP:0000003 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000148 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000921 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001600 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0002777 biolink:PhenotypicFeature HP:0003057 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0006709 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009103 biolink:PhenotypicFeature HP:0009924 biolink:PhenotypicFeature HP:0100569 biolink:PhenotypicFeature HP:0100842 biolink:PhenotypicFeature Orphanet:3312 biolink:Disease Thalidomide embryopathy HP:0000356 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0002257 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature HP:0004059 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005613 biolink:PhenotypicFeature HP:0006495 biolink:PhenotypicFeature HP:0006507 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0009813 biolink:PhenotypicFeature HP:0009892 biolink:PhenotypicFeature Orphanet:3268 biolink:Disease Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0000164 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000288 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature Orphanet:3270 biolink:Disease Radioulnar synostosis-developmental delay-hypotonia syndrome HP:0000003 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature Orphanet:3344 biolink:Disease Weismann-Netter syndrome HP:0000820 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0002980 biolink:PhenotypicFeature HP:0002982 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003063 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0003177 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0010502 biolink:PhenotypicFeature Orphanet:3353 biolink:Disease Trichodermodysplasia-dental alterations syndrome HP:0000008 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002299 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0005338 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature HP:0009720 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0200102 biolink:PhenotypicFeature Orphanet:3347 biolink:Disease Mounier-Kühn syndrome HP:0002086 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002777 biolink:PhenotypicFeature HP:0006538 biolink:PhenotypicFeature HP:0010776 biolink:PhenotypicFeature HP:0012387 biolink:PhenotypicFeature Orphanet:3316 biolink:Disease Thomas syndrome HP:0000003 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature Orphanet:3314 biolink:Disease Thiemann disease, familial form HP:0000944 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature Orphanet:3329 biolink:Disease Tibial aplasia-ectrodactyly syndrome HP:0000396 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0002980 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature HP:0003038 biolink:PhenotypicFeature HP:0003097 biolink:PhenotypicFeature HP:0005772 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006443 biolink:PhenotypicFeature HP:0006495 biolink:PhenotypicFeature HP:0009756 biolink:PhenotypicFeature HP:0100257 biolink:PhenotypicFeature Orphanet:3322 biolink:Disease Hoyeraal-Hreidarsson syndrome HP:0000252 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001881 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002745 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0007392 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0011358 biolink:PhenotypicFeature Orphanet:3377 biolink:Disease Trismus-pseudocamptodactyly syndrome HP:0000303 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009773 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature Orphanet:3409 biolink:Disease Urban-Rogers-Meyer syndrome HP:0000028 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000288 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000940 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005830 biolink:PhenotypicFeature HP:0000069 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009906 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:3416 biolink:Disease Hyperostosis corticalis generalisata HP:0000303 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0004437 biolink:PhenotypicFeature HP:0005019 biolink:PhenotypicFeature HP:0005789 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature Orphanet:3361 biolink:Disease Trichodysplasia-xeroderma syndrome HP:0000535 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0003777 biolink:PhenotypicFeature HP:0009886 biolink:PhenotypicFeature HP:0002299 biolink:PhenotypicFeature HP:0002552 biolink:PhenotypicFeature Orphanet:3366 biolink:Disease Non-syndromic metopic craniosynostosis HP:0000336 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature Orphanet:3374 biolink:Disease Triopia HP:0000161 biolink:PhenotypicFeature HP:0000235 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000615 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0100629 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature Orphanet:3453 biolink:Disease Autoimmune polyendocrinopathy type 1 HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000829 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001578 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002728 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0004319 biolink:PhenotypicFeature HP:0007759 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature HP:0008221 biolink:PhenotypicFeature HP:0100530 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature Orphanet:3454 biolink:Disease Intellectual disability-developmental delay-contractures syndrome HP:0000486 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005745 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:3456 biolink:Disease Wildervanck syndrome HP:0000324 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000538 biolink:PhenotypicFeature HP:0001132 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0002949 biolink:PhenotypicFeature HP:0008527 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0011349 biolink:PhenotypicFeature Orphanet:3465 biolink:Disease Worster-Drought syndrome HP:0000252 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001291 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002445 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:3424 biolink:Disease Velo-facial-skeletal syndrome HP:0000164 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001212 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:3429 biolink:Disease Verloove Vanhorick-Brubakk syndrome HP:0000028 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000828 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature HP:0100542 biolink:PhenotypicFeature Orphanet:3434 biolink:Disease MMEP syndrome HP:0000028 biolink:PhenotypicFeature HP:0000161 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001839 biolink:PhenotypicFeature Orphanet:3449 biolink:Disease Weill-Marchesani syndrome HP:0000501 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001083 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0011003 biolink:PhenotypicFeature Orphanet:1759 biolink:Disease Thoraco-abdominal enteric duplication HP:0000921 biolink:PhenotypicFeature HP:0001651 biolink:PhenotypicFeature HP:0001702 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature HP:0100563 biolink:PhenotypicFeature HP:0100867 biolink:PhenotypicFeature Orphanet:1570 biolink:Disease Symbrachydactyly of hands and feet HP:0002650 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003063 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0100745 biolink:PhenotypicFeature Orphanet:1827 biolink:Disease Acromelic frontonasal dysplasia HP:0000239 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000456 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001841 biolink:PhenotypicFeature HP:0002056 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0006866 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0009099 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature HP:0011803 biolink:PhenotypicFeature HP:0000161 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002190 biolink:PhenotypicFeature HP:0040326 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002690 biolink:PhenotypicFeature HP:0002781 biolink:PhenotypicFeature HP:0003065 biolink:PhenotypicFeature HP:0005772 biolink:PhenotypicFeature HP:0006951 biolink:PhenotypicFeature HP:0010627 biolink:PhenotypicFeature HP:0040075 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0025247 biolink:PhenotypicFeature Orphanet:3319 biolink:Disease Congenital amegakaryocytic thrombocytopenia HP:0000280 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004331 biolink:PhenotypicFeature HP:0011902 biolink:PhenotypicFeature Orphanet:3471 biolink:Disease Young syndrome HP:0000144 biolink:PhenotypicFeature HP:0001732 biolink:PhenotypicFeature HP:0002837 biolink:PhenotypicFeature HP:0005425 biolink:PhenotypicFeature HP:0011962 biolink:PhenotypicFeature Orphanet:2151 biolink:Disease Hirschsprung disease-ganglioneuroblastoma syndrome HP:0000615 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0004375 biolink:PhenotypicFeature HP:0006747 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature Orphanet:3074 biolink:Disease Intellectual disability-short stature-hypertelorism syndrome HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature Orphanet:1778 biolink:Disease Facial dysmorphism-shawl scrotum-joint laxity syndrome HP:0000028 biolink:PhenotypicFeature HP:0000049 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0003764 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature Orphanet:2547 biolink:Disease Microphthalmia-microtia-fetal akinesia syndrome HP:0000014 biolink:PhenotypicFeature HP:0000072 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009773 biolink:PhenotypicFeature HP:0010935 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100867 biolink:PhenotypicFeature Orphanet:1277 biolink:Disease Brachydactyly-mesomelia-intellectual disability-heart defects syndrome HP:0000174 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0003027 biolink:PhenotypicFeature HP:0003043 biolink:PhenotypicFeature HP:0004299 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100818 biolink:PhenotypicFeature Orphanet:2058 biolink:Disease Fryns-Smeets-Thiry syndrome HP:0000154 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006443 biolink:PhenotypicFeature Orphanet:1192 biolink:Disease Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome HP:0000028 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001327 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002344 biolink:PhenotypicFeature HP:0003287 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004929 biolink:PhenotypicFeature HP:0007201 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0100545 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature Orphanet:2349 biolink:Disease Muscular pseudohypertrophy-hypothyroidism syndrome HP:0000158 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003712 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:2062 biolink:Disease Progressive non-infectious anterior vertebral fusion HP:0000098 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0003363 biolink:PhenotypicFeature HP:0005037 biolink:PhenotypicFeature HP:0005108 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100777 biolink:PhenotypicFeature Orphanet:2582 biolink:Disease Myalgia-eosinophilia syndrome associated with tryptophan HP:0001025 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0002103 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature Orphanet:1779 biolink:Disease Dysmorphism-cleft palate-loose skin syndrome HP:0000098 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature Orphanet:2204 biolink:Disease Dysplastic cortical hyperostosis HP:0000079 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002813 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature Orphanet:2963 biolink:Disease Progeroid syndrome, Petty type HP:0000232 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000973 biolink:PhenotypicFeature HP:0001002 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002299 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004331 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0007740 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0009721 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature Orphanet:3207 biolink:Disease White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0012430 biolink:PhenotypicFeature Orphanet:2964 biolink:Disease Autosomal dominant prognathism HP:0000232 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature Orphanet:2956 biolink:Disease Acrodysplasia scoliosis HP:0001156 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature Orphanet:2969 biolink:Disease Proteus-like syndrome HP:0000147 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000615 biolink:PhenotypicFeature HP:0000828 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001031 biolink:PhenotypicFeature HP:0001100 biolink:PhenotypicFeature HP:0001140 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001334 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002816 biolink:PhenotypicFeature HP:0005293 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0009721 biolink:PhenotypicFeature HP:0010516 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0010816 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0100730 biolink:PhenotypicFeature HP:0100774 biolink:PhenotypicFeature HP:0100777 biolink:PhenotypicFeature Orphanet:2973 biolink:Disease 46,XX disorder of sex development-anorectal anomalies syndrome HP:0000003 biolink:PhenotypicFeature HP:0000072 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000795 biolink:PhenotypicFeature HP:0000812 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0010458 biolink:PhenotypicFeature HP:0100627 biolink:PhenotypicFeature HP:0100779 biolink:PhenotypicFeature Orphanet:2972 biolink:Disease Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome HP:0000272 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0005439 biolink:PhenotypicFeature HP:0006329 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature Orphanet:2989 biolink:Disease Familial pterygium of the conjunctiva HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0007759 biolink:PhenotypicFeature Orphanet:2978 biolink:Disease Chronic intestinal pseudoobstruction HP:0001643 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002242 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0011875 biolink:PhenotypicFeature HP:0012639 biolink:PhenotypicFeature Orphanet:3004 biolink:Disease Mirror polydactyly-vertebral segmentation-limbs defects syndrome HP:0001171 biolink:PhenotypicFeature HP:0001829 biolink:PhenotypicFeature HP:0002247 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005359 biolink:PhenotypicFeature HP:0009829 biolink:PhenotypicFeature Orphanet:2990 biolink:Disease Autosomal recessive multiple pterygium syndrome HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000157 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000766 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000902 biolink:PhenotypicFeature HP:0001040 biolink:PhenotypicFeature HP:0001059 biolink:PhenotypicFeature HP:0001060 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001646 biolink:PhenotypicFeature HP:0001724 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0003764 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0008729 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009756 biolink:PhenotypicFeature HP:0009760 biolink:PhenotypicFeature HP:0009773 biolink:PhenotypicFeature HP:0010318 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature HP:0012718 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:3019 biolink:Disease Ramon syndrome HP:0000169 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000593 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature Orphanet:3023 biolink:Disease External auditory canal atresia-vertical talus-hypertelorism syndrome HP:0000316 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature Orphanet:3034 biolink:Disease Delayed membranous cranial ossification HP:0000269 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0004331 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:3033 biolink:Disease Renal tubular dysgenesis HP:0000112 biolink:PhenotypicFeature HP:0000114 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008660 biolink:PhenotypicFeature Orphanet:3035 biolink:Disease Growth delay-hydrocephaly-lung hypoplasia syndrome HP:0000347 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002410 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0002982 biolink:PhenotypicFeature HP:0002986 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0009816 biolink:PhenotypicFeature HP:0100569 biolink:PhenotypicFeature Orphanet:3038 biolink:Disease Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome HP:0000218 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0007946 biolink:PhenotypicFeature HP:0009908 biolink:PhenotypicFeature Orphanet:3042 biolink:Disease Intellectual disability-cataracts-calcified pinnae-myopathy syndrome HP:0000135 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001798 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002868 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003273 biolink:PhenotypicFeature HP:0003301 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005103 biolink:PhenotypicFeature HP:0005121 biolink:PhenotypicFeature HP:0008689 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012062 biolink:PhenotypicFeature Orphanet:3055 biolink:Disease X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome HP:0000028 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010468 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0004299 biolink:PhenotypicFeature Orphanet:3057 biolink:Disease Monoamine oxidase A deficiency HP:0000708 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:3068 biolink:Disease Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000044 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004303 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004493 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:3079 biolink:Disease Intellectual disability, Buenos-Aires type HP:0000126 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002648 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0008407 biolink:PhenotypicFeature HP:0008425 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature Orphanet:3080 biolink:Disease Intellectual disability, Wolff type HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002242 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0008559 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:3098 biolink:Disease Rhizomelic syndrome, Urbach type HP:0000157 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0003063 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0011362 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:3104 biolink:Disease Robin sequence-oligodactyly syndrome HP:0000162 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0001180 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature Orphanet:3109 biolink:Disease Mayer-Rokitansky-Küster-Hauser syndrome HP:0000077 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000086 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000151 biolink:PhenotypicFeature HP:0002948 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0005107 biolink:PhenotypicFeature HP:0008726 biolink:PhenotypicFeature Orphanet:3144 biolink:Disease Schneckenbecken dysplasia HP:0000028 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000773 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000882 biolink:PhenotypicFeature HP:0000895 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0000946 biolink:PhenotypicFeature HP:0000947 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003038 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0005019 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0008108 biolink:PhenotypicFeature HP:0008479 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature HP:0012107 biolink:PhenotypicFeature Orphanet:3143 biolink:Disease Autoimmune polyendocrinopathy type 2 HP:0000135 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature HP:0000829 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002608 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature HP:0100647 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature Orphanet:3130 biolink:Disease Satoyoshi syndrome HP:0000013 biolink:PhenotypicFeature HP:0000130 biolink:PhenotypicFeature HP:0000137 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001367 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0002289 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003063 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0008724 biolink:PhenotypicFeature HP:0009806 biolink:PhenotypicFeature HP:0011964 biolink:PhenotypicFeature HP:0200102 biolink:PhenotypicFeature Orphanet:3121 biolink:Disease Ruvalcaba syndrome HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature HP:0100542 biolink:PhenotypicFeature HP:0100734 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:3156 biolink:Disease Senior-Loken syndrome HP:0000090 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002612 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004348 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature Orphanet:647 biolink:Disease Nijmegen breakage syndrome HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001480 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0001890 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002025 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002488 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002859 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003220 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005425 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0009733 biolink:PhenotypicFeature HP:0011362 biolink:PhenotypicFeature HP:0012190 biolink:PhenotypicFeature HP:0012191 biolink:PhenotypicFeature HP:0012732 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature HP:0100515 biolink:PhenotypicFeature Orphanet:3152 biolink:Disease Sclerosteosis HP:0000098 biolink:PhenotypicFeature HP:0000366 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001233 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0004493 biolink:PhenotypicFeature HP:0005019 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0009838 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0100798 biolink:PhenotypicFeature Orphanet:3145 biolink:Disease Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome HP:0000347 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0009806 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature Orphanet:1797 biolink:Disease Autosomal dominant spondylocostal dysostosis HP:0000008 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000913 biolink:PhenotypicFeature HP:0000921 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0005107 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature Orphanet:3180 biolink:Disease Spondylocamptodactyly syndrome HP:0000926 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:3164 biolink:Disease Omphalocele syndrome, Shprintzen-Goldberg type HP:0000219 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0002000 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0005338 biolink:PhenotypicFeature HP:0005956 biolink:PhenotypicFeature HP:0008749 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009555 biolink:PhenotypicFeature Orphanet:3157 biolink:Disease Septo-optic dysplasia spectrum HP:0000028 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000458 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000864 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001331 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002032 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0010627 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100842 biolink:PhenotypicFeature Orphanet:3191 biolink:Disease Subaortic stenosis-short stature syndrome HP:0000023 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001080 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001682 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003119 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0005174 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008777 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature Orphanet:3186 biolink:Disease Holoprosencephaly-radial heart renal anomalies syndrome HP:0000161 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000921 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001829 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002623 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0003063 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0007744 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0009829 biolink:PhenotypicFeature HP:0009914 biolink:PhenotypicFeature HP:0009927 biolink:PhenotypicFeature HP:0011467 biolink:PhenotypicFeature HP:0100542 biolink:PhenotypicFeature Orphanet:3181 biolink:Disease Sprengel deformity HP:0000175 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0001435 biolink:PhenotypicFeature HP:0003043 biolink:PhenotypicFeature HP:0008952 biolink:PhenotypicFeature Orphanet:3216 biolink:Disease Conductive deafness-malformed external ear syndrome HP:0000135 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000402 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0004299 biolink:PhenotypicFeature HP:0004452 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature Orphanet:3218 biolink:Disease Deafness-epiphyseal dysplasia-short stature syndrome HP:0000023 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000579 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006499 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature Orphanet:3193 biolink:Disease Supravalvular aortic stenosis HP:0004381 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature Orphanet:3225 biolink:Disease Hearing loss-familial salivary gland insensitivity to aldosterone syndrome HP:0000407 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0010286 biolink:PhenotypicFeature Orphanet:3230 biolink:Disease Deafness-oligodontia syndrome HP:0000359 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature Orphanet:3219 biolink:Disease Fountain syndrome HP:0000154 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000282 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004493 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0100255 biolink:PhenotypicFeature HP:0100670 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:3236 biolink:Disease Conductive deafness-ptosis-skeletal anomalies syndrome HP:0000174 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008773 biolink:PhenotypicFeature Orphanet:3241 biolink:Disease Deafness-craniofacial syndrome HP:0000164 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000200 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0004524 biolink:PhenotypicFeature HP:0010297 biolink:PhenotypicFeature Orphanet:3232 biolink:Disease Deafness-ear malformation-facial palsy syndrome HP:0000383 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0008628 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0009739 biolink:PhenotypicFeature HP:0009906 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature Orphanet:3233 biolink:Disease Cochleosaccular degeneration-cataract syndrome HP:0000408 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0005102 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature Orphanet:3265 biolink:Disease Humero-radial synostosis HP:0000252 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003070 biolink:PhenotypicFeature HP:0008056 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature Orphanet:3266 biolink:Disease Humero-radio-ulnar synostosis HP:0000069 biolink:PhenotypicFeature HP:0001048 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0003070 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0010935 biolink:PhenotypicFeature HP:0100560 biolink:PhenotypicFeature Orphanet:3250 biolink:Disease Proximal symphalangism HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003070 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0005880 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0040019 biolink:PhenotypicFeature HP:0100264 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:3253 biolink:Disease Cleft lip/palate-ectodermal dysplasia syndrome HP:0000046 biolink:PhenotypicFeature HP:0000069 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000674 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0000968 biolink:PhenotypicFeature HP:0000972 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001810 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002744 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003777 biolink:PhenotypicFeature HP:0005338 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008391 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:248 biolink:Disease Autosomal recessive hypohidrotic ectodermal dysplasia HP:0000958 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0006323 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0000685 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature Orphanet:317 biolink:Disease Erythrokeratodermia variabilis HP:0000252 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0000035 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0005588 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature Orphanet:793 biolink:Disease SAPHO syndrome HP:0000765 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002037 biolink:PhenotypicFeature HP:0002570 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003765 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0005464 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0010622 biolink:PhenotypicFeature HP:0100686 biolink:PhenotypicFeature HP:0100769 biolink:PhenotypicFeature HP:0100781 biolink:PhenotypicFeature HP:0100847 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100774 biolink:PhenotypicFeature Orphanet:662 biolink:Disease Yellow nail syndrome HP:0000112 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001806 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002102 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0003759 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0009726 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature HP:0011367 biolink:PhenotypicFeature HP:0012384 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100242 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature HP:0100574 biolink:PhenotypicFeature HP:0100797 biolink:PhenotypicFeature HP:0100798 biolink:PhenotypicFeature Orphanet:592 biolink:Disease Macrophagic myofasciitis HP:0001945 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:2637 biolink:Disease Microcephalic osteodysplastic primordial dwarfism type II HP:0000055 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002777 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002866 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003275 biolink:PhenotypicFeature HP:0003498 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0009906 biolink:PhenotypicFeature HP:0045025 biolink:PhenotypicFeature HP:0100545 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:393 biolink:Disease 46,XX testicular disorder of sex development HP:0000026 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature Orphanet:428 biolink:Disease Autosomal dominant hypocalcemia HP:0000121 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0002356 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002905 biolink:PhenotypicFeature HP:0002917 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0003473 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012608 biolink:PhenotypicFeature HP:0040148 biolink:PhenotypicFeature Orphanet:829 biolink:Disease Adult-onset Still disease HP:0000988 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002102 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003119 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0008940 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0011897 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0100773 biolink:PhenotypicFeature HP:0100776 biolink:PhenotypicFeature Orphanet:231 biolink:Disease Dracunculiasis HP:0000988 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0011134 biolink:PhenotypicFeature HP:0100326 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature HP:0100838 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:772 biolink:Disease Infantile Refsum disease HP:0000271 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003323 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0007981 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008167 biolink:PhenotypicFeature HP:0010571 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature Orphanet:1048 biolink:Disease Isolated anencephaly/exencephaly HP:0002323 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature Orphanet:1194 biolink:Disease TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001641 biolink:PhenotypicFeature HP:0001646 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003535 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:1243 biolink:Disease Best vitelliform macular dystrophy HP:0000505 biolink:PhenotypicFeature HP:0000551 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001139 biolink:PhenotypicFeature HP:0008028 biolink:PhenotypicFeature HP:0012508 biolink:PhenotypicFeature Orphanet:531 biolink:Disease Miller-Dieker syndrome HP:0000112 biolink:PhenotypicFeature HP:0000177 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature Orphanet:452 biolink:Disease X-linked lissencephaly with abnormal genitalia HP:0000028 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001738 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature Orphanet:1900 biolink:Disease Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0001030 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0005659 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002761 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002943 biolink:PhenotypicFeature HP:0032153 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001058 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0002647 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003690 biolink:PhenotypicFeature HP:0003835 biolink:PhenotypicFeature HP:0004942 biolink:PhenotypicFeature HP:0005294 biolink:PhenotypicFeature HP:0008780 biolink:PhenotypicFeature HP:0020152 biolink:PhenotypicFeature HP:0025019 biolink:PhenotypicFeature HP:0025513 biolink:PhenotypicFeature HP:0030043 biolink:PhenotypicFeature HP:0031158 biolink:PhenotypicFeature HP:0100295 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002624 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0031189 biolink:PhenotypicFeature HP:0031629 biolink:PhenotypicFeature HP:0045052 biolink:PhenotypicFeature Orphanet:839 biolink:Disease Congenital nephrotic syndrome, Finnish type HP:0000091 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000696 biolink:PhenotypicFeature HP:0004639 biolink:PhenotypicFeature Orphanet:285 biolink:Disease Hypermobile Ehlers-Danlos syndrome HP:0000023 biolink:PhenotypicFeature HP:0000140 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000168 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000230 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000563 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0000977 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0001063 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0005111 biolink:PhenotypicFeature HP:0005293 biolink:PhenotypicFeature HP:0005294 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0010318 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012732 biolink:PhenotypicFeature HP:0100550 biolink:PhenotypicFeature HP:0100645 biolink:PhenotypicFeature HP:0100823 biolink:PhenotypicFeature Orphanet:286 biolink:Disease Vascular Ehlers-Danlos syndrome HP:0000015 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000139 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000168 biolink:PhenotypicFeature HP:0000190 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000230 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000563 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000615 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000704 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001073 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature HP:0002242 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0002619 biolink:PhenotypicFeature HP:0002642 biolink:PhenotypicFeature HP:0002647 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0004937 biolink:PhenotypicFeature HP:0004942 biolink:PhenotypicFeature HP:0004947 biolink:PhenotypicFeature HP:0005111 biolink:PhenotypicFeature HP:0005244 biolink:PhenotypicFeature HP:0005294 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006323 biolink:PhenotypicFeature HP:0007392 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0007900 biolink:PhenotypicFeature HP:0009906 biolink:PhenotypicFeature HP:0010318 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0010648 biolink:PhenotypicFeature HP:0010719 biolink:PhenotypicFeature HP:0011029 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100545 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100645 biolink:PhenotypicFeature HP:0100718 biolink:PhenotypicFeature HP:0100784 biolink:PhenotypicFeature HP:0100817 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:419 biolink:Disease Hyperprolinemia type 1 HP:0000093 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0003137 biolink:PhenotypicFeature HP:0008358 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature Orphanet:757 biolink:Disease Pseudohypoaldosteronism type 2 HP:0000164 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0003768 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:758 biolink:Disease Pseudoxanthoma elasticum HP:0000121 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000573 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001012 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001065 biolink:PhenotypicFeature HP:0001102 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0001723 biolink:PhenotypicFeature HP:0001872 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0002621 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004306 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007392 biolink:PhenotypicFeature HP:0012508 biolink:PhenotypicFeature HP:0100545 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature HP:0100679 biolink:PhenotypicFeature Orphanet:2345 biolink:Disease Isolated Klippel-Feil syndrome HP:0000175 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0001291 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003043 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0004602 biolink:PhenotypicFeature HP:0005107 biolink:PhenotypicFeature HP:0005640 biolink:PhenotypicFeature HP:0005988 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:503 biolink:Disease Larsen syndrome HP:0000028 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001799 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004232 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005008 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008755 biolink:PhenotypicFeature HP:0009836 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature Orphanet:889 biolink:Disease Cutaneous small vessel vasculitis HP:0000163 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:2908 biolink:Disease Kindler epidermolysis bullosa HP:0000230 biolink:PhenotypicFeature HP:0000262 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000704 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001029 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0001602 biolink:PhenotypicFeature HP:0001741 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002037 biolink:PhenotypicFeature HP:0002043 biolink:PhenotypicFeature HP:0002583 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0004378 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006323 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0010044 biolink:PhenotypicFeature HP:0010047 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012227 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100517 biolink:PhenotypicFeature HP:0100633 biolink:PhenotypicFeature HP:0100825 biolink:PhenotypicFeature Orphanet:779 biolink:Disease Reynolds syndrome HP:0000217 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004295 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature HP:0011838 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100579 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100725 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:1461 biolink:Disease Criss-cross heart HP:0000765 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001669 biolink:PhenotypicFeature HP:0001718 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0004381 biolink:PhenotypicFeature HP:0010446 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature Orphanet:81 biolink:Disease Antisynthetase syndrome HP:0000217 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0100679 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:764 biolink:Disease Pyomyositis HP:0000083 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0100616 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0100838 biolink:PhenotypicFeature Orphanet:700 biolink:Disease Alopecia totalis HP:0001596 biolink:PhenotypicFeature HP:0200115 biolink:PhenotypicFeature Orphanet:840 biolink:Disease Syringocystadenoma papilliferum HP:0001482 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0010815 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:720 biolink:Disease Pili bifurcati HP:0001595 biolink:PhenotypicFeature HP:0010719 biolink:PhenotypicFeature Orphanet:492 biolink:Disease Proliferating trichilemmal cyst HP:0002209 biolink:PhenotypicFeature HP:0200040 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:499 biolink:Disease Kerion celsi HP:0001581 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0100838 biolink:PhenotypicFeature Orphanet:573 biolink:Disease Monilethrix HP:0000164 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002217 biolink:PhenotypicFeature HP:0002232 biolink:PhenotypicFeature HP:0002299 biolink:PhenotypicFeature HP:0007502 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature Orphanet:525 biolink:Disease Lichen planopilaris HP:0000962 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001059 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001806 biolink:PhenotypicFeature HP:0002242 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0100649 biolink:PhenotypicFeature HP:0100725 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:222 biolink:Disease Erosive pustular dermatosis of the scalp HP:0001595 biolink:PhenotypicFeature HP:0004552 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature Orphanet:346 biolink:Disease Quinquaud folliculitis decalvans HP:0001581 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0002232 biolink:PhenotypicFeature HP:0004552 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0100699 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature Orphanet:505 biolink:Disease Graham Little-Piccardi-Lassueur syndrome HP:0000989 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002215 biolink:PhenotypicFeature HP:0002225 biolink:PhenotypicFeature HP:0007468 biolink:PhenotypicFeature HP:0100725 biolink:PhenotypicFeature Orphanet:444 biolink:Disease Marie Unna hereditary hypotrichosis HP:0001596 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature HP:0200102 biolink:PhenotypicFeature Orphanet:168 biolink:Disease Loose anagen syndrome HP:0000612 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0010721 biolink:PhenotypicFeature Orphanet:169 biolink:Disease Ringed hair disease HP:0002213 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature Orphanet:170 biolink:Disease Woolly hair HP:0000479 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000615 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002217 biolink:PhenotypicFeature HP:0002224 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0002299 biolink:PhenotypicFeature HP:0005338 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0010719 biolink:PhenotypicFeature Orphanet:202 biolink:Disease Crandall syndrome HP:0000035 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0002299 biolink:PhenotypicFeature HP:0003777 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:108 biolink:Disease Babesiosis HP:0000083 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001864 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100724 biolink:PhenotypicFeature HP:0100776 biolink:PhenotypicFeature Orphanet:529 biolink:Disease Roch-Leri mesosomatous lipomatosis HP:0001482 biolink:PhenotypicFeature HP:0001012 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature Orphanet:129 biolink:Disease Pseudopelade of Brocq HP:0001581 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0100725 biolink:PhenotypicFeature HP:0100825 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:345 biolink:Disease Dissecting cellulitis of the scalp HP:0000969 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0100809 biolink:PhenotypicFeature Orphanet:3437 biolink:Disease Vogt-Koyanagi-Harada disease HP:0000499 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0002290 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:225 biolink:Disease Maternally-inherited diabetes and deafness HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000532 biolink:PhenotypicFeature HP:0000544 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0003119 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007754 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature Orphanet:302 biolink:Disease Epidermodysplasia verruciformis HP:0001051 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0002715 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature HP:0200043 biolink:PhenotypicFeature Orphanet:1451 biolink:Disease CINCA syndrome HP:0000256 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000538 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001367 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001476 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001872 biolink:PhenotypicFeature HP:0001874 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001911 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100533 biolink:PhenotypicFeature HP:0100654 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:556 biolink:Disease Malakoplakia HP:0000012 biolink:PhenotypicFeature HP:0000019 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000140 biolink:PhenotypicFeature HP:0000157 biolink:PhenotypicFeature HP:0000464 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002729 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100273 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature HP:0100577 biolink:PhenotypicFeature HP:0100743 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100787 biolink:PhenotypicFeature HP:0100796 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:538 biolink:Disease Lymphangioleiomyomatosis HP:0000008 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0006772 biolink:PhenotypicFeature HP:0009594 biolink:PhenotypicFeature HP:0009721 biolink:PhenotypicFeature HP:0009726 biolink:PhenotypicFeature HP:0010310 biolink:PhenotypicFeature HP:0011852 biolink:PhenotypicFeature HP:0012086 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0012798 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature HP:0100763 biolink:PhenotypicFeature HP:0100804 biolink:PhenotypicFeature Orphanet:745 biolink:Disease Severe hereditary thrombophilia due to congenital protein C deficiency HP:0000963 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001038 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0005293 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature Orphanet:3162 biolink:Disease Sézary syndrome HP:0000271 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001019 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002103 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004332 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010701 biolink:PhenotypicFeature HP:0012192 biolink:PhenotypicFeature HP:0100725 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature Orphanet:2584 biolink:Disease Classic mycosis fungoides HP:0000492 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001029 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0004332 biolink:PhenotypicFeature HP:0005561 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012192 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:6 biolink:Disease 3-methylcrotonyl-CoA carboxylase deficiency HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0001992 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0004357 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature Orphanet:343 biolink:Disease Hyperimmunoglobulinemia D with periodic fever HP:0000979 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001063 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001954 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003261 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011107 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:743 biolink:Disease Severe hereditary thrombophilia due to congenital protein S deficiency HP:0000488 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001933 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002625 biolink:PhenotypicFeature HP:0004418 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0005293 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:28 biolink:Disease Vitamin B12-responsive methylmalonic acidemia HP:0000083 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature Orphanet:851 biolink:Disease Paris-Trousseau thrombocytopenia HP:0001249 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature Orphanet:622 biolink:Disease Homocystinuria without methylmalonic aciduria HP:0000505 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001980 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature Orphanet:820 biolink:Disease Sneddon syndrome HP:0000112 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001727 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0003613 biolink:PhenotypicFeature HP:0011276 biolink:PhenotypicFeature HP:0100545 biolink:PhenotypicFeature HP:0100576 biolink:PhenotypicFeature Orphanet:110 biolink:Disease Bardet-Biedl syndrome HP:0000003 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008724 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010747 biolink:PhenotypicFeature Orphanet:3206 biolink:Disease Stüve-Wiedemann syndrome HP:0000164 biolink:PhenotypicFeature HP:0000211 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000632 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000935 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001954 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003016 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0006844 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0008000 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010298 biolink:PhenotypicFeature HP:0012785 biolink:PhenotypicFeature HP:0100028 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:65 biolink:Disease Leber congenital amaurosis HP:0000365 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000563 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001141 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0006817 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0012795 biolink:PhenotypicFeature Orphanet:910 biolink:Disease Xeroderma pigmentosum HP:0000028 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000498 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000524 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000621 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001009 biolink:PhenotypicFeature HP:0001029 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001059 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001480 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0004493 biolink:PhenotypicFeature HP:0006887 biolink:PhenotypicFeature HP:0007759 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0009755 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010649 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0012740 biolink:PhenotypicFeature HP:0100012 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature Orphanet:478 biolink:Disease Kallmann syndrome HP:0000008 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000458 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000551 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000830 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001335 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0003164 biolink:PhenotypicFeature HP:0003187 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0004409 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0010550 biolink:PhenotypicFeature HP:0030016 biolink:PhenotypicFeature HP:0100639 biolink:PhenotypicFeature Orphanet:633 biolink:Disease Laron syndrome HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0005281 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0009924 biolink:PhenotypicFeature Orphanet:1114 biolink:Disease Aplasia cutis congenita HP:0001362 biolink:PhenotypicFeature HP:0004471 biolink:PhenotypicFeature HP:0007383 biolink:PhenotypicFeature HP:0010301 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0003010 biolink:PhenotypicFeature HP:0004348 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature Orphanet:2184 biolink:Disease Hydrocephaly-low insertion umbilicus syndrome HP:0000079 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0001334 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0003189 biolink:PhenotypicFeature HP:0004299 biolink:PhenotypicFeature HP:0010772 biolink:PhenotypicFeature Orphanet:2831 biolink:Disease Rhizomelic dysplasia, Patterson-Lowry type HP:0000286 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004097 biolink:PhenotypicFeature HP:0005687 biolink:PhenotypicFeature HP:0005792 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100729 biolink:PhenotypicFeature Orphanet:1681 biolink:Disease Diprosopus HP:0000175 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000366 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002323 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:2680 biolink:Disease Hypomyelination neuropathy-arthrogryposis syndrome HP:0001252 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature Orphanet:1309 biolink:Disease Medullary sponge kidney HP:0000787 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001528 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0008341 biolink:PhenotypicFeature Orphanet:2841 biolink:Disease Familial benign chronic pemphigus HP:0000962 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0100792 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature Orphanet:809 biolink:Disease Mixed connective tissue disease HP:0000112 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002102 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003010 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0005263 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0100324 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:2611 biolink:Disease Linear verrucous nevus syndrome HP:0000077 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000481 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002816 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008060 biolink:PhenotypicFeature HP:0009592 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0100006 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0002148 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0012500 biolink:PhenotypicFeature Orphanet:256 biolink:Disease Early-onset generalized limb-onset dystonia HP:0001276 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:2073 biolink:Disease Narcolepsy type 1 HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002189 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002494 biolink:PhenotypicFeature HP:0002524 biolink:PhenotypicFeature HP:0010534 biolink:PhenotypicFeature Orphanet:618 biolink:Disease Familial melanoma HP:0000488 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001480 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0002894 biolink:PhenotypicFeature HP:0003764 biolink:PhenotypicFeature HP:0006753 biolink:PhenotypicFeature HP:0100013 biolink:PhenotypicFeature HP:0100763 biolink:PhenotypicFeature Orphanet:35 biolink:Disease Propionic acidemia HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0001992 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003353 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature Orphanet:177 biolink:Disease Rhizomelic chondrodysplasia punctata HP:0000164 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0010655 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature Orphanet:175 biolink:Disease Cartilage-hair hypoplasia HP:0000174 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000535 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000940 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001377 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001732 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002777 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002982 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003027 biolink:PhenotypicFeature HP:0003220 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004625 biolink:PhenotypicFeature HP:0005019 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005871 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0006589 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008056 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008155 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0009832 biolink:PhenotypicFeature HP:0010301 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0010318 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011849 biolink:PhenotypicFeature HP:0012722 biolink:PhenotypicFeature HP:0100255 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100569 biolink:PhenotypicFeature HP:0100729 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:3318 biolink:Disease Essential thrombocythemia HP:0001658 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001872 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0002488 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0003010 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0005513 biolink:PhenotypicFeature HP:0005561 biolink:PhenotypicFeature HP:0011875 biolink:PhenotypicFeature HP:0011974 biolink:PhenotypicFeature HP:0100576 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature Orphanet:818 biolink:Disease Smith-Lemli-Opitz syndrome HP:0000003 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000057 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000074 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000171 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000647 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0000996 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001543 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001600 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001830 biolink:PhenotypicFeature HP:0001884 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002777 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0003027 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0005264 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006288 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0006695 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0008056 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0010297 biolink:PhenotypicFeature HP:0010569 biolink:PhenotypicFeature HP:0010880 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0100542 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:903 biolink:Disease Von Willebrand disease HP:0001633 biolink:PhenotypicFeature HP:0001872 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0004097 biolink:PhenotypicFeature HP:0005293 biolink:PhenotypicFeature HP:0011869 biolink:PhenotypicFeature Orphanet:3283 biolink:Disease His bundle tachycardia HP:0001638 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011716 biolink:PhenotypicFeature HP:0100544 biolink:PhenotypicFeature Orphanet:3286 biolink:Disease Catecholaminergic polymorphic ventricular tachycardia HP:0001279 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0004756 biolink:PhenotypicFeature Orphanet:2591 biolink:Disease Infantile myofibromatosis HP:0000077 biolink:PhenotypicFeature HP:0000169 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0000934 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0002242 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002894 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0005107 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0010614 biolink:PhenotypicFeature HP:0012062 biolink:PhenotypicFeature HP:0100242 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature HP:0100835 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:655 biolink:Disease Nephronophthisis HP:0000083 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature Orphanet:3188 biolink:Disease Congenital pulmonary veins atresia or stenosis HP:0000822 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature Orphanet:3189 biolink:Disease Congenital pulmonary valvar stenosis HP:0001602 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature Orphanet:1572 biolink:Disease Common variable immunodeficiency HP:0000248 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001973 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002837 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0006783 biolink:PhenotypicFeature HP:0100723 biolink:PhenotypicFeature Orphanet:3082 biolink:Disease Intellectual disability-polydactyly-uncombable hair syndrome HP:0000028 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001991 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002217 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004299 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006265 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0009896 biolink:PhenotypicFeature HP:0009906 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0010508 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0030056 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:782 biolink:Disease Axenfeld-Rieger syndrome HP:0000047 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000593 biolink:PhenotypicFeature HP:0000627 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000864 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0002025 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008053 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:882 biolink:Disease Tyrosinemia type 1 HP:0001402 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002909 biolink:PhenotypicFeature HP:0006463 biolink:PhenotypicFeature HP:0006554 biolink:PhenotypicFeature Orphanet:46724 biolink:Disease Cerebral arteriovenous malformation HP:0100659 biolink:PhenotypicFeature HP:0100761 biolink:PhenotypicFeature HP:0100784 biolink:PhenotypicFeature Orphanet:47045 biolink:Disease Familial cold urticaria HP:0000407 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012534 biolink:PhenotypicFeature Orphanet:46532 biolink:Disease Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome HP:0000980 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003330 biolink:PhenotypicFeature HP:0011904 biolink:PhenotypicFeature Orphanet:46627 biolink:Disease Char syndrome HP:0000207 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004220 biolink:PhenotypicFeature HP:0006159 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0004218 biolink:PhenotypicFeature HP:0006335 biolink:PhenotypicFeature HP:0008498 biolink:PhenotypicFeature HP:0010112 biolink:PhenotypicFeature Orphanet:46488 biolink:Disease Linear IgA dermatosis HP:0000155 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0002037 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0009725 biolink:PhenotypicFeature HP:0009726 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:46486 biolink:Disease Mucous membrane pemphigoid HP:0000230 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0200097 biolink:PhenotypicFeature Orphanet:46487 biolink:Disease Epidermolysis bullosa acquisita HP:0000819 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002037 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature Orphanet:48686 biolink:Disease Primary effusion lymphoma HP:0001698 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002585 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0012191 biolink:PhenotypicFeature Orphanet:48818 biolink:Disease Aceruloplasminemia HP:0000707 biolink:PhenotypicFeature HP:0003281 biolink:PhenotypicFeature HP:0004840 biolink:PhenotypicFeature HP:0005505 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0025498 biolink:PhenotypicFeature HP:0000546 biolink:PhenotypicFeature HP:0000608 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0010837 biolink:PhenotypicFeature HP:0011967 biolink:PhenotypicFeature HP:0012465 biolink:PhenotypicFeature HP:0040303 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000273 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000643 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002304 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0010994 biolink:PhenotypicFeature HP:0012090 biolink:PhenotypicFeature HP:0012179 biolink:PhenotypicFeature HP:0012675 biolink:PhenotypicFeature HP:0012696 biolink:PhenotypicFeature HP:0100321 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature Orphanet:48431 biolink:Disease Congenital cataracts-facial dysmorphism-neuropathy syndrome HP:0000044 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003134 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007002 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0008942 biolink:PhenotypicFeature HP:0010620 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:48652 biolink:Disease Monosomy 22q13.3 HP:0000076 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0003763 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0008278 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012167 biolink:PhenotypicFeature HP:0012787 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0100702 biolink:PhenotypicFeature Orphanet:48372 biolink:Disease Nodular regenerative hyperplasia of the liver HP:0001409 biolink:PhenotypicFeature HP:0006707 biolink:PhenotypicFeature Orphanet:48377 biolink:Disease Subcorneal pustular dermatosis HP:0000821 biolink:PhenotypicFeature HP:0000836 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001370 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0006775 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature Orphanet:47612 biolink:Disease Felty syndrome HP:0000010 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0001367 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002102 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0004332 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012384 biolink:PhenotypicFeature HP:0100534 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0100769 biolink:PhenotypicFeature HP:0100776 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:48104 biolink:Disease Pyoderma gangrenosum HP:0001075 biolink:PhenotypicFeature HP:0001370 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002037 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0012324 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:36426 biolink:Disease Stevens-Johnson syndrome HP:0000083 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000621 biolink:PhenotypicFeature HP:0000795 biolink:PhenotypicFeature HP:0001637 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001874 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001960 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002043 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002103 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003781 biolink:PhenotypicFeature HP:0006554 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0030016 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature HP:0100792 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0200020 biolink:PhenotypicFeature Orphanet:36412 biolink:Disease Hypocomplementemic urticarial vasculitis HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0004431 biolink:PhenotypicFeature HP:0006536 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011944 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0100326 biolink:PhenotypicFeature HP:0100533 biolink:PhenotypicFeature HP:0100534 biolink:PhenotypicFeature HP:0100665 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature Orphanet:36397 biolink:Disease Adiposis dolorosa HP:0000217 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002215 biolink:PhenotypicFeature HP:0002225 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature Orphanet:36258 biolink:Disease Buerger disease HP:0000763 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001063 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:36237 biolink:Disease Bullous impetigo HP:0003095 biolink:PhenotypicFeature HP:0005406 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0100763 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature Orphanet:35737 biolink:Disease Morning glory disc anomaly HP:0000486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000588 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature Orphanet:35701 biolink:Disease 3-hydroxy-3-methylglutaryl-CoA synthase deficiency HP:0001250 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature Orphanet:46348 biolink:Disease Paroxysmal extreme pain disorder HP:0001250 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature Orphanet:46059 biolink:Disease Lathosterolosis HP:0000085 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001406 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001830 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0004823 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0007759 biolink:PhenotypicFeature HP:0008278 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0011875 biolink:PhenotypicFeature HP:0100711 biolink:PhenotypicFeature Orphanet:44890 biolink:Disease Gastrointestinal stromal tumor HP:0000988 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0006753 biolink:PhenotypicFeature HP:0007378 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100242 biolink:PhenotypicFeature HP:0100273 biolink:PhenotypicFeature HP:0100723 biolink:PhenotypicFeature HP:0100743 biolink:PhenotypicFeature HP:0100751 biolink:PhenotypicFeature HP:0100833 biolink:PhenotypicFeature Orphanet:42775 biolink:Disease PHACE syndrome HP:0000252 biolink:PhenotypicFeature HP:0000284 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000647 biolink:PhenotypicFeature HP:0000766 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001100 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002408 biolink:PhenotypicFeature HP:0002616 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0005306 biolink:PhenotypicFeature HP:0005344 biolink:PhenotypicFeature HP:0007797 biolink:PhenotypicFeature HP:0009145 biolink:PhenotypicFeature HP:0100028 biolink:PhenotypicFeature HP:0100719 biolink:PhenotypicFeature HP:0100761 biolink:PhenotypicFeature Orphanet:42642 biolink:Disease PFAPA syndrome HP:0000163 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0004370 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100776 biolink:PhenotypicFeature Orphanet:39041 biolink:Disease Omenn syndrome HP:0000100 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001019 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0004332 biolink:PhenotypicFeature HP:0004430 biolink:PhenotypicFeature HP:0007549 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:37748 biolink:Disease Schnitzler syndrome HP:0000988 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003496 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:52417 biolink:Disease MALT lymphoma HP:0000505 biolink:PhenotypicFeature HP:0000614 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0012191 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0012123 biolink:PhenotypicFeature Orphanet:52429 biolink:Disease Branchiootic syndrome HP:0000324 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000359 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0008609 biolink:PhenotypicFeature HP:0009795 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000614 biolink:PhenotypicFeature HP:0100267 biolink:PhenotypicFeature Orphanet:52503 biolink:Disease X-linked creatine transporter deficiency HP:0000194 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000742 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002305 biolink:PhenotypicFeature HP:0002595 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0012113 biolink:PhenotypicFeature Orphanet:53271 biolink:Disease Muenke syndrome HP:0000238 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004440 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0009702 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature Orphanet:52055 biolink:Disease Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000378 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000588 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:52056 biolink:Disease Ulnar/fibula ray defect-brachydactyly syndrome HP:0000272 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006210 biolink:PhenotypicFeature HP:0006492 biolink:PhenotypicFeature HP:0006495 biolink:PhenotypicFeature HP:0009237 biolink:PhenotypicFeature Orphanet:52416 biolink:Disease Mantle cell lymphoma HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0005561 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0012191 biolink:PhenotypicFeature Orphanet:53719 biolink:Disease Wyburn-Mason syndrome HP:0000225 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002138 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0007797 biolink:PhenotypicFeature HP:0011276 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature HP:0100784 biolink:PhenotypicFeature Orphanet:53721 biolink:Disease Spinal arteriovenous metameric syndrome HP:0000077 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0001014 biolink:PhenotypicFeature HP:0001052 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002143 biolink:PhenotypicFeature HP:0002385 biolink:PhenotypicFeature HP:0002390 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature HP:0006773 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature HP:0100761 biolink:PhenotypicFeature HP:0100764 biolink:PhenotypicFeature Orphanet:55654 biolink:Disease Hypotrichosis simplex HP:0000535 biolink:PhenotypicFeature HP:0000653 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0004782 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature Orphanet:55881 biolink:Disease Adamantinoma HP:0002653 biolink:PhenotypicFeature HP:0002756 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature Orphanet:53296 biolink:Disease Familial cutaneous collagenoma HP:0001000 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature Orphanet:53693 biolink:Disease GRACILE syndrome HP:0000365 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001994 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003281 biolink:PhenotypicFeature HP:0012464 biolink:PhenotypicFeature HP:0012465 biolink:PhenotypicFeature HP:0100613 biolink:PhenotypicFeature Orphanet:53697 biolink:Disease Gnathodiaphyseal dysplasia HP:0000935 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0007626 biolink:PhenotypicFeature HP:0012802 biolink:PhenotypicFeature Orphanet:53715 biolink:Disease Familial tumoral calcinosis HP:0000121 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000168 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000230 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0007470 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0100249 biolink:PhenotypicFeature HP:0100774 biolink:PhenotypicFeature Orphanet:50811 biolink:Disease Lipodystrophy-intellectual disability-deafness syndrome HP:0000407 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001533 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004993 biolink:PhenotypicFeature HP:0005328 biolink:PhenotypicFeature HP:0009064 biolink:PhenotypicFeature HP:0100959 biolink:PhenotypicFeature Orphanet:50810 biolink:Disease Microlissencephaly-micromelia syndrome HP:0000343 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000829 biolink:PhenotypicFeature HP:0000878 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004554 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0010945 biolink:PhenotypicFeature HP:0100530 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature Orphanet:50814 biolink:Disease Craniolenticulosutural dysplasia HP:0000154 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000685 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002299 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004331 biolink:PhenotypicFeature HP:0005306 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006480 biolink:PhenotypicFeature HP:0008031 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008444 biolink:PhenotypicFeature HP:0008808 biolink:PhenotypicFeature Orphanet:50812 biolink:Disease Zellweger-like syndrome without peroxisomal anomalies HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002299 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:49804 biolink:Disease Lichen amyloidosis HP:0000989 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:48918 biolink:Disease Focal myositis HP:0001324 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature Orphanet:50809 biolink:Disease Talo-patello-scaphoid osteolysis HP:0003037 biolink:PhenotypicFeature HP:0006202 biolink:PhenotypicFeature HP:0006378 biolink:PhenotypicFeature HP:0008095 biolink:PhenotypicFeature HP:0010044 biolink:PhenotypicFeature HP:0100769 biolink:PhenotypicFeature Orphanet:49827 biolink:Disease Thiamine-responsive megaloblastic anemia syndrome HP:0000407 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001695 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001889 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006671 biolink:PhenotypicFeature Orphanet:50945 biolink:Disease Blomstrand lethal chondrodysplasia HP:0000272 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000695 biolink:PhenotypicFeature HP:0000773 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000916 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001538 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0003015 biolink:PhenotypicFeature HP:0003021 biolink:PhenotypicFeature HP:0003027 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0005716 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006402 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0006660 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0008921 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0010808 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0100240 biolink:PhenotypicFeature Orphanet:50944 biolink:Disease Schöpf-Schulz-Passarge syndrome HP:0000320 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000968 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0006323 biolink:PhenotypicFeature HP:0007380 biolink:PhenotypicFeature HP:0100615 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:52047 biolink:Disease Braddock syndrome HP:0000122 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000921 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005950 biolink:PhenotypicFeature HP:0005988 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature Orphanet:52022 biolink:Disease Potocki-Shaffer syndrome HP:0000054 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000437 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature HP:0002697 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0004331 biolink:PhenotypicFeature HP:0100777 biolink:PhenotypicFeature Orphanet:50817 biolink:Disease Duane anomaly-myopathy-scoliosis syndrome HP:0000252 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003508 biolink:PhenotypicFeature HP:0009921 biolink:PhenotypicFeature Orphanet:50815 biolink:Disease Branchiogenic deafness syndrome HP:0000175 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000410 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004452 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0007427 biolink:PhenotypicFeature HP:0008774 biolink:PhenotypicFeature HP:0009795 biolink:PhenotypicFeature HP:0009796 biolink:PhenotypicFeature HP:0009839 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0011272 biolink:PhenotypicFeature Orphanet:50943 biolink:Disease Keratolytic winter erythema HP:0000975 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature Orphanet:50942 biolink:Disease Striate palmoplantar keratoderma HP:0000982 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature Orphanet:841 biolink:Disease Sebocystomatosis HP:0000787 biolink:PhenotypicFeature HP:0009720 biolink:PhenotypicFeature HP:0012035 biolink:PhenotypicFeature Orphanet:530 biolink:Disease Lipoid proteinosis HP:0000168 biolink:PhenotypicFeature HP:0000171 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000199 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0011830 biolink:PhenotypicFeature HP:0100582 biolink:PhenotypicFeature HP:0100699 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature HP:0200043 biolink:PhenotypicFeature HP:0200115 biolink:PhenotypicFeature Orphanet:735 biolink:Disease Porokeratosis of Mibelli HP:0000962 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0200044 biolink:PhenotypicFeature Orphanet:867 biolink:Disease Familial multiple trichoepithelioma HP:0001482 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:703 biolink:Disease Bullous pemphigoid HP:0000819 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003765 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature Orphanet:728 biolink:Disease Relapsing polychondritis HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001545 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001646 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0004306 biolink:PhenotypicFeature HP:0004418 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0005310 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011107 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0100532 biolink:PhenotypicFeature HP:0100533 biolink:PhenotypicFeature HP:0100534 biolink:PhenotypicFeature HP:0100662 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature HP:0200047 biolink:PhenotypicFeature Orphanet:722 biolink:Disease Hypoplasminogenemia HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0040228 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000230 biolink:PhenotypicFeature HP:0000137 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000370 biolink:PhenotypicFeature HP:0000704 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002588 biolink:PhenotypicFeature HP:0011027 biolink:PhenotypicFeature HP:0030160 biolink:PhenotypicFeature Orphanet:873 biolink:Disease Desmoid tumor HP:0000126 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004298 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0010614 biolink:PhenotypicFeature HP:0010935 biolink:PhenotypicFeature HP:0100245 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0200008 biolink:PhenotypicFeature Orphanet:588 biolink:Disease Muscle-eye-brain disease HP:0000238 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:603 biolink:Disease Distal myopathy, Welander type HP:0003198 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0008954 biolink:PhenotypicFeature HP:0008959 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0009077 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0003805 biolink:PhenotypicFeature HP:0007149 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature Orphanet:617 biolink:Disease Congenital primary megaureter HP:0000010 biolink:PhenotypicFeature HP:0000036 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002907 biolink:PhenotypicFeature HP:0008676 biolink:PhenotypicFeature HP:0010935 biolink:PhenotypicFeature Orphanet:272 biolink:Disease Congenital muscular dystrophy, Fukuyama type HP:0000238 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001612 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0003560 biolink:PhenotypicFeature HP:0007260 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0007973 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0030046 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:38 biolink:Disease Acrokeratoelastoidosis of Costa HP:0000972 biolink:PhenotypicFeature HP:0025092 biolink:PhenotypicFeature HP:0025167 biolink:PhenotypicFeature HP:0045059 biolink:PhenotypicFeature HP:0002955 biolink:PhenotypicFeature HP:0025114 biolink:PhenotypicFeature HP:0025507 biolink:PhenotypicFeature HP:0040162 biolink:PhenotypicFeature HP:0006089 biolink:PhenotypicFeature HP:0025509 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature Orphanet:241 biolink:Disease Dyschromatosis universalis hereditaria HP:0000365 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001480 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005590 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature Orphanet:211 biolink:Disease Familial cylindromatosis HP:0001482 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature Orphanet:122 biolink:Disease Birt-Hogg-Dubé syndrome HP:0001012 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature HP:0002865 biolink:PhenotypicFeature HP:0002897 biolink:PhenotypicFeature HP:0005584 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0010609 biolink:PhenotypicFeature HP:0100632 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:41 biolink:Disease Dyschromatosis symmetrica hereditaria HP:0001304 biolink:PhenotypicFeature HP:0007988 biolink:PhenotypicFeature HP:0011509 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature Orphanet:454 biolink:Disease Acquired ichthyosis HP:0000083 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0006775 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0100242 biolink:PhenotypicFeature HP:0100326 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:409 biolink:Disease Hyperkeratosis lenticularis perstans HP:0000989 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0007570 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:384 biolink:Disease Huriez syndrome HP:0000958 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0011838 biolink:PhenotypicFeature HP:0100679 biolink:PhenotypicFeature Orphanet:316 biolink:Disease Progressive symmetric erythrokeratodermia HP:0000982 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature Orphanet:523 biolink:Disease Hereditary leiomyomatosis and renal cell cancer HP:0000131 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0002891 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0006732 biolink:PhenotypicFeature HP:0007437 biolink:PhenotypicFeature HP:0007620 biolink:PhenotypicFeature HP:0100580 biolink:PhenotypicFeature HP:0100650 biolink:PhenotypicFeature HP:0100751 biolink:PhenotypicFeature Orphanet:314 biolink:Disease Erythroderma desquamativum HP:0001051 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature Orphanet:493 biolink:Disease Familial keratoacanthoma HP:0000962 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0009720 biolink:PhenotypicFeature HP:0012740 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:33314 biolink:Disease Jessner lymphocytic infiltration of the skin HP:0000989 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0004332 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature Orphanet:33355 biolink:Disease Reticular dysgenesis HP:0000365 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001874 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0003287 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004430 biolink:PhenotypicFeature HP:0005374 biolink:PhenotypicFeature HP:0010515 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:33408 biolink:Disease Bullous lichen planus HP:0000989 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0100725 biolink:PhenotypicFeature HP:0100783 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:33574 biolink:Disease Glutamate-cysteine ligase deficiency HP:0001878 biolink:PhenotypicFeature HP:0002503 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001923 biolink:PhenotypicFeature HP:0010522 biolink:PhenotypicFeature Orphanet:33577 biolink:Disease Nodular non-suppurative panniculitis HP:0000969 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012490 biolink:PhenotypicFeature HP:0100533 biolink:PhenotypicFeature Orphanet:34217 biolink:Disease Naxos disease HP:0000204 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002212 biolink:PhenotypicFeature HP:0002224 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0005141 biolink:PhenotypicFeature HP:0010719 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature Orphanet:35093 biolink:Disease Non-syndromic sagittal craniosynostosis HP:0000268 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature Orphanet:35099 biolink:Disease Non-syndromic bicoronal craniosynostosis HP:0000248 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0009701 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:35612 biolink:Disease Nanophthalmos HP:0000486 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000610 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature Orphanet:35664 biolink:Disease ALDH18A1-related De Barsy syndrome HP:0000518 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature Orphanet:35687 biolink:Disease Erdheim-Chester disease HP:0000083 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001114 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001646 biolink:PhenotypicFeature HP:0001697 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0003335 biolink:PhenotypicFeature HP:0005200 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature Orphanet:729 biolink:Disease Polycythemia vera HP:0000225 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002488 biolink:PhenotypicFeature HP:0002639 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0004417 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0011974 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030242 biolink:PhenotypicFeature Orphanet:724 biolink:Disease Idiopathic acute eosinophilic pneumonia HP:0001879 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002103 biolink:PhenotypicFeature HP:0002111 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:26790 biolink:Disease Pseudomyxoma peritonei HP:0001541 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002037 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002585 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0004298 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:545 biolink:Disease Follicular lymphoma HP:0001004 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002585 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030166 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature Orphanet:29822 biolink:Disease Spontaneous periodic hypothermia HP:0000975 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:29207 biolink:Disease Reactive arthritis HP:0000010 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002037 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002103 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0008391 biolink:PhenotypicFeature HP:0011107 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100686 biolink:PhenotypicFeature HP:0100773 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature Orphanet:31112 biolink:Disease Dermatofibrosarcoma protuberans HP:0001072 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0100244 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:30925 biolink:Disease Hereditary central diabetes insipidus HP:0000737 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature Orphanet:31142 biolink:Disease Oral erosive lichen HP:0000155 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0100725 biolink:PhenotypicFeature HP:0100825 biolink:PhenotypicFeature Orphanet:32960 biolink:Disease Tumor necrosis factor receptor 1 associated periodic syndrome HP:0000509 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0001055 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001637 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001954 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002102 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0100537 biolink:PhenotypicFeature HP:0100539 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100776 biolink:PhenotypicFeature HP:0100781 biolink:PhenotypicFeature HP:0100796 biolink:PhenotypicFeature Orphanet:33110 biolink:Disease Autosomal agammaglobulinemia HP:0000218 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0004432 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0200043 biolink:PhenotypicFeature Orphanet:33001 biolink:Disease Lymphedema-distichiasis syndrome HP:0000010 biolink:PhenotypicFeature HP:0000075 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002619 biolink:PhenotypicFeature HP:0003550 biolink:PhenotypicFeature HP:0004930 biolink:PhenotypicFeature HP:0009743 biolink:PhenotypicFeature HP:0009745 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0100244 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature HP:0200020 biolink:PhenotypicFeature Orphanet:33226 biolink:Disease Waldenström macroglobulinemia HP:0000083 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000573 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001874 biolink:PhenotypicFeature HP:0001897 biolink:PhenotypicFeature HP:0001909 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0005508 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0008046 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0010841 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100539 biolink:PhenotypicFeature HP:0100724 biolink:PhenotypicFeature HP:0100778 biolink:PhenotypicFeature Orphanet:33208 biolink:Disease Idiopathic hypersomnia HP:0001262 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0100786 biolink:PhenotypicFeature Orphanet:79278 biolink:Disease Autosomal erythropoietic protoporphyria HP:0000964 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001935 biolink:PhenotypicFeature HP:0010472 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature Orphanet:79279 biolink:Disease Alpha-N-acetylgalactosaminidase deficiency type 1 HP:0000365 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001009 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003700 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature Orphanet:79276 biolink:Disease Acute intermittent porphyria HP:0002027 biolink:PhenotypicFeature HP:0003163 biolink:PhenotypicFeature HP:0010473 biolink:PhenotypicFeature HP:0012217 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0009763 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0030833 biolink:PhenotypicFeature HP:0000711 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002203 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002595 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0004347 biolink:PhenotypicFeature HP:0007002 biolink:PhenotypicFeature HP:0007024 biolink:PhenotypicFeature HP:0007178 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0011999 biolink:PhenotypicFeature HP:0040319 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000016 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature HP:0011121 biolink:PhenotypicFeature Orphanet:79238 biolink:Disease Galactose epimerase deficiency HP:0000518 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0004915 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature Orphanet:79234 biolink:Disease Crigler-Najjar syndrome type 1 HP:0000365 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001080 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001343 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0003265 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0008282 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0012246 biolink:PhenotypicFeature Orphanet:79235 biolink:Disease Crigler-Najjar syndrome type 2 HP:0003265 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0008282 biolink:PhenotypicFeature Orphanet:79242 biolink:Disease Holocarboxylase synthetase deficiency HP:0000737 biolink:PhenotypicFeature HP:0001096 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0011127 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0001992 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0007549 biolink:PhenotypicFeature Orphanet:79254 biolink:Disease Classic phenylketonuria HP:0000252 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0002333 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0004923 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0010550 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0100679 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:79241 biolink:Disease Biotinidase deficiency HP:0001992 biolink:PhenotypicFeature HP:0005979 biolink:PhenotypicFeature HP:0410145 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002715 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000575 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000976 biolink:PhenotypicFeature HP:0001138 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002196 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002841 biolink:PhenotypicFeature HP:0002883 biolink:PhenotypicFeature HP:0003690 biolink:PhenotypicFeature HP:0004429 biolink:PhenotypicFeature HP:0005401 biolink:PhenotypicFeature HP:0006511 biolink:PhenotypicFeature HP:0011153 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature HP:0200068 biolink:PhenotypicFeature Orphanet:79314 biolink:Disease L-2-hydroxyglutaric aciduria HP:0000256 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0004375 biolink:PhenotypicFeature HP:0006887 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:79312 biolink:Disease Vitamin B12-unresponsive methylmalonic acidemia type mut- HP:0000083 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:79321 biolink:Disease ALG3-CDG HP:0012379 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002060 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000366 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002813 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0040064 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001871 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0045005 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000172 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0005871 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0012110 biolink:PhenotypicFeature HP:0012157 biolink:PhenotypicFeature HP:0012305 biolink:PhenotypicFeature HP:0012762 biolink:PhenotypicFeature Orphanet:79283 biolink:Disease Methylmalonic acidemia with homocystinuria, type cblD HP:0000708 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001980 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:79281 biolink:Disease Alpha-N-acetylgalactosaminidase deficiency type 3 HP:0000486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature Orphanet:79280 biolink:Disease Alpha-N-acetylgalactosaminidase deficiency type 2 HP:0000214 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001071 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007428 biolink:PhenotypicFeature HP:0007759 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:79301 biolink:Disease Congenital bile acid synthesis defect type 1 HP:0000662 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001080 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0006566 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature Orphanet:79292 biolink:Disease Fish-eye disease HP:0000505 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002621 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0003233 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature Orphanet:77258 biolink:Disease Trichorhinophalangeal syndrome type 1 and 3 HP:0000164 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000535 biolink:PhenotypicFeature HP:0000653 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001808 biolink:PhenotypicFeature HP:0001820 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005743 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature HP:0010743 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0011341 biolink:PhenotypicFeature HP:0011910 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:77259 biolink:Disease Gaucher disease type 1 HP:0000093 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001637 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001971 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002756 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002953 biolink:PhenotypicFeature HP:0005230 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature Orphanet:77260 biolink:Disease Gaucher disease type 2 HP:0000486 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001695 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature Orphanet:77261 biolink:Disease Gaucher disease type 3 HP:0000093 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001637 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0004380 biolink:PhenotypicFeature HP:0004382 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:77297 biolink:Disease Majeed syndrome HP:0000093 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002907 biolink:PhenotypicFeature HP:0003025 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0004810 biolink:PhenotypicFeature HP:0004840 biolink:PhenotypicFeature HP:0005561 biolink:PhenotypicFeature HP:0005901 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0012647 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100769 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature Orphanet:77298 biolink:Disease Anophthalmia/microphthalmia-esophageal atresia syndrome HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000647 biolink:PhenotypicFeature HP:0000878 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002032 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature Orphanet:77301 biolink:Disease Monosomy 9q22.3 HP:0010617 biolink:PhenotypicFeature HP:0010618 biolink:PhenotypicFeature HP:0011330 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0009894 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0002885 biolink:PhenotypicFeature HP:0005462 biolink:PhenotypicFeature HP:0010603 biolink:PhenotypicFeature HP:0010610 biolink:PhenotypicFeature HP:0010612 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature HP:0002859 biolink:PhenotypicFeature Orphanet:75374 biolink:Disease Bradyopsia HP:0000505 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature Orphanet:75378 biolink:Disease Oligocone trichromacy HP:0000512 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature Orphanet:75389 biolink:Disease Brain malformation-congenital heart disease-postaxial polydactyly syndrome HP:0000089 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002299 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004415 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0006817 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011747 biolink:PhenotypicFeature HP:0011757 biolink:PhenotypicFeature Orphanet:75392 biolink:Disease Periodontal Ehlers-Danlos syndrome HP:0000704 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006308 biolink:PhenotypicFeature HP:0006349 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0006323 biolink:PhenotypicFeature Orphanet:75496 biolink:Disease B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome HP:0000028 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000230 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000535 biolink:PhenotypicFeature HP:0000653 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000973 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005328 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006481 biolink:PhenotypicFeature HP:0007469 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0010511 biolink:PhenotypicFeature HP:0100813 biolink:PhenotypicFeature Orphanet:75497 biolink:Disease X-linked Ehlers-Danlos syndrome HP:0000023 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:75563 biolink:Disease X-linked sideroblastic anemia HP:0000833 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0011031 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:79133 biolink:Disease Focal facial dermal dysplasia type I HP:0000215 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000437 biolink:PhenotypicFeature HP:0000561 biolink:PhenotypicFeature HP:0001057 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0005338 biolink:PhenotypicFeature HP:0005585 biolink:PhenotypicFeature HP:0005590 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0009743 biolink:PhenotypicFeature HP:0010781 biolink:PhenotypicFeature HP:0011221 biolink:PhenotypicFeature Orphanet:79141 biolink:Disease Hereditary painful callosities HP:0005588 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature Orphanet:79156 biolink:Disease Seizures-intellectual disability due to hydroxylysinuria syndrome HP:0001249 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature Orphanet:79152 biolink:Disease Disseminated superficial actinic porokeratosis HP:0200044 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature Orphanet:79230 biolink:Disease Hemochromatosis type 2 HP:0000135 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0002612 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003040 biolink:PhenotypicFeature HP:0003281 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0011031 biolink:PhenotypicFeature HP:0012093 biolink:PhenotypicFeature HP:0012463 biolink:PhenotypicFeature Orphanet:79168 biolink:Disease Disorder of bile acid synthesis HP:0000662 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001080 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002630 biolink:PhenotypicFeature HP:0002748 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature Orphanet:79087 biolink:Disease Acquired partial lipodystrophy HP:0100578 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0005328 biolink:PhenotypicFeature HP:0005421 biolink:PhenotypicFeature HP:0100827 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002907 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature Orphanet:79084 biolink:Disease Familial partial lipodystrophy, Köbberling type HP:0000147 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0000991 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001677 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature Orphanet:79094 biolink:Disease Grange syndrome HP:0000822 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature HP:0100545 biolink:PhenotypicFeature Orphanet:79107 biolink:Disease Developmental malformations-deafness-dystonia syndrome HP:0000158 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000882 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002571 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007325 biolink:PhenotypicFeature HP:0008796 biolink:PhenotypicFeature HP:0100613 biolink:PhenotypicFeature Orphanet:79129 biolink:Disease Trichodysplasia-amelogenesis imperfecta syndrome HP:0000705 biolink:PhenotypicFeature HP:0002552 biolink:PhenotypicFeature HP:0200115 biolink:PhenotypicFeature Orphanet:79113 biolink:Disease Mandibulofacial dysostosis-microcephaly syndrome HP:0000175 biolink:PhenotypicFeature HP:0000191 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008609 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0009748 biolink:PhenotypicFeature HP:0011268 biolink:PhenotypicFeature HP:0011272 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature Orphanet:69735 biolink:Disease Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HP:0000561 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002223 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0003550 biolink:PhenotypicFeature HP:0100763 biolink:PhenotypicFeature HP:0100869 biolink:PhenotypicFeature HP:0100870 biolink:PhenotypicFeature HP:0000034 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature Orphanet:69126 biolink:Disease Pyogenic arthritis-pyoderma gangrenosum-acne syndrome HP:0000093 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012649 biolink:PhenotypicFeature HP:0100280 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:69077 biolink:Disease Rhabdoid tumor HP:0000737 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002896 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0009726 biolink:PhenotypicFeature HP:0011029 biolink:PhenotypicFeature HP:0012246 biolink:PhenotypicFeature HP:0100006 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0100242 biolink:PhenotypicFeature Orphanet:69078 biolink:Disease Liposarcoma HP:0000077 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002619 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100242 biolink:PhenotypicFeature Orphanet:69061 biolink:Disease Idiopathic steroid-sensitive nephrotic syndrome HP:0000100 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature Orphanet:69063 biolink:Disease Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization HP:0000099 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0030949 biolink:PhenotypicFeature HP:0031437 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature Orphanet:67048 biolink:Disease 3-methylglutaconic aciduria type 4 HP:0000252 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002195 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003535 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature Orphanet:67046 biolink:Disease 3-methylglutaconic aciduria type 1 HP:0000252 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003535 biolink:PhenotypicFeature Orphanet:67047 biolink:Disease 3-methylglutaconic aciduria type 3 HP:0000505 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0003535 biolink:PhenotypicFeature Orphanet:66661 biolink:Disease Mast cell sarcoma HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100242 biolink:PhenotypicFeature HP:0100495 biolink:PhenotypicFeature HP:0100720 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature Orphanet:67041 biolink:Disease Hyaluronidase deficiency HP:0003170 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:66637 biolink:Disease Diaphanospondylodysostosis HP:0000175 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000921 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0003275 biolink:PhenotypicFeature HP:0004599 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0005640 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0100625 biolink:PhenotypicFeature Orphanet:75373 biolink:Disease Progressive bifocal chorioretinal atrophy HP:0000505 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001135 biolink:PhenotypicFeature HP:0007401 biolink:PhenotypicFeature Orphanet:75325 biolink:Disease Osteosclerosis-ichthyosis-premature ovarian failure syndrome HP:0008064 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0100805 biolink:PhenotypicFeature Orphanet:75234 biolink:Disease Cholesteryl ester storage disease HP:0000952 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002040 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002634 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0010512 biolink:PhenotypicFeature Orphanet:75233 biolink:Disease Wolman disease HP:0000846 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002040 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002570 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0004333 biolink:PhenotypicFeature HP:0004395 biolink:PhenotypicFeature HP:0010512 biolink:PhenotypicFeature Orphanet:73273 biolink:Disease Growth delay due to insulin-like growth factor I resistance HP:0000232 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature Orphanet:73246 biolink:Disease Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000003 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000535 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004389 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007678 biolink:PhenotypicFeature HP:0010956 biolink:PhenotypicFeature Orphanet:71519 biolink:Disease Psychogenic movement disorders HP:0001288 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:71493 biolink:Disease Familial thrombocytosis HP:0000975 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001894 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0004808 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0005296 biolink:PhenotypicFeature HP:0005506 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:71289 biolink:Disease Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome HP:0000407 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004859 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature Orphanet:71276 biolink:Disease Silent sinus syndrome HP:0000478 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature Orphanet:71267 biolink:Disease Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome HP:0000322 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000703 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature Orphanet:70592 biolink:Disease Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency HP:0001875 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0005366 biolink:PhenotypicFeature HP:0007499 biolink:PhenotypicFeature Orphanet:70567 biolink:Disease Cholangiocarcinoma HP:0000952 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0011985 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100574 biolink:PhenotypicFeature Orphanet:70482 biolink:Disease Carcinoma of esophagus HP:0000464 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002242 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100247 biolink:PhenotypicFeature HP:0100580 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100751 biolink:PhenotypicFeature Orphanet:63442 biolink:Disease Angel-shaped phalango-epiphyseal dysplasia HP:0004220 biolink:PhenotypicFeature HP:0005819 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0010034 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008843 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature Orphanet:63446 biolink:Disease Acrocapitofemoral dysplasia HP:0000256 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0001821 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002869 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003300 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003367 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006059 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature Orphanet:63455 biolink:Disease Paraneoplastic pemphigus HP:0000155 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0012191 biolink:PhenotypicFeature HP:0100242 biolink:PhenotypicFeature HP:0100522 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0200097 biolink:PhenotypicFeature Orphanet:63259 biolink:Disease Iniencephaly HP:0000078 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000476 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001543 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002247 biolink:PhenotypicFeature HP:0002323 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0008465 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0009939 biolink:PhenotypicFeature HP:0010301 biolink:PhenotypicFeature HP:0012294 biolink:PhenotypicFeature Orphanet:63260 biolink:Disease Craniorachischisis HP:0000776 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002323 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0005857 biolink:PhenotypicFeature HP:0010301 biolink:PhenotypicFeature HP:0010309 biolink:PhenotypicFeature HP:0010497 biolink:PhenotypicFeature Orphanet:63275 biolink:Disease Pemphigoid gestationis HP:0000989 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature Orphanet:59315 biolink:Disease Rhombencephalosynapsis HP:0000130 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002032 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002335 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006899 biolink:PhenotypicFeature HP:0009803 biolink:PhenotypicFeature HP:0009943 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature HP:0010664 biolink:PhenotypicFeature HP:0012210 biolink:PhenotypicFeature HP:0100321 biolink:PhenotypicFeature HP:0100842 biolink:PhenotypicFeature Orphanet:60030 biolink:Disease Loeys-Dietz syndrome HP:0000098 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0001065 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001695 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0002647 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004942 biolink:PhenotypicFeature HP:0005116 biolink:PhenotypicFeature HP:0005294 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100718 biolink:PhenotypicFeature Orphanet:60040 biolink:Disease Megalencephaly-capillary malformation-polymicrogyria syndrome HP:0000154 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0001052 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001829 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012639 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100761 biolink:PhenotypicFeature Orphanet:56425 biolink:Disease Cold agglutinin disease HP:0000980 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0012086 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:57782 biolink:Disease Mazabraud syndrome HP:0000924 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0010734 biolink:PhenotypicFeature Orphanet:59303 biolink:Disease Neonatal ichthyosis-sclerosing cholangitis syndrome HP:0000535 biolink:PhenotypicFeature HP:0000653 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0004552 biolink:PhenotypicFeature HP:0004782 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature Orphanet:66630 biolink:Disease Congenital pseudoarthrosis of the clavicle HP:0000891 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001651 biolink:PhenotypicFeature HP:0001696 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0006585 biolink:PhenotypicFeature Orphanet:66629 biolink:Disease Goldberg-Shprintzen megacolon syndrome HP:0000047 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000535 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature Orphanet:66633 biolink:Disease Sensorineural hearing loss-early graying-essential tremor syndrome HP:0000407 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0001100 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature Orphanet:66631 biolink:Disease CEDNIK syndrome HP:0000093 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0003134 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007435 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature Orphanet:65682 biolink:Disease Benign recurrent intrahepatic cholestasis HP:0000365 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002611 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0011985 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:65288 biolink:Disease Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome HP:0000325 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000857 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0100800 biolink:PhenotypicFeature Orphanet:66625 biolink:Disease Cerebrooculonasal syndrome HP:0000218 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000535 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000653 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002006 biolink:PhenotypicFeature HP:0005288 biolink:PhenotypicFeature HP:0006315 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0009912 biolink:PhenotypicFeature HP:0010806 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0012639 biolink:PhenotypicFeature HP:0100729 biolink:PhenotypicFeature Orphanet:65684 biolink:Disease Monomelic amyotrophy HP:0001324 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0002398 biolink:PhenotypicFeature HP:0002715 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0003134 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0007149 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:65282 biolink:Disease Carvajal syndrome HP:0001635 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0002224 biolink:PhenotypicFeature HP:0005588 biolink:PhenotypicFeature Orphanet:65286 biolink:Disease 3q29 microdeletion syndrome HP:0000047 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001682 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007302 biolink:PhenotypicFeature HP:0008416 biolink:PhenotypicFeature Orphanet:65285 biolink:Disease Lhermitte-Duclos disease HP:0000158 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0012081 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0010619 biolink:PhenotypicFeature HP:0012844 biolink:PhenotypicFeature HP:0100031 biolink:PhenotypicFeature HP:0100615 biolink:PhenotypicFeature HP:0200016 biolink:PhenotypicFeature Orphanet:64741 biolink:Disease Pulmonary blastoma HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100528 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:63862 biolink:Disease Schisis association HP:0000104 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002323 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0100333 biolink:PhenotypicFeature Orphanet:64755 biolink:Disease Becker nevus syndrome HP:0000045 biolink:PhenotypicFeature HP:0000064 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000902 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0003724 biolink:PhenotypicFeature HP:0005815 biolink:PhenotypicFeature HP:0010311 biolink:PhenotypicFeature HP:0010566 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0100560 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature Orphanet:64754 biolink:Disease Nevus comedonicus syndrome HP:0010566 biolink:PhenotypicFeature HP:0025249 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001052 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0100258 biolink:PhenotypicFeature Orphanet:85297 biolink:Disease X-linked spinocerebellar ataxia type 3 HP:0000407 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature Orphanet:85295 biolink:Disease HSD10 disease, atypical type HP:0000708 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:85294 biolink:Disease X-linked epilepsy-learning disabilities-behavior disorders syndrome HP:0000256 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature Orphanet:85293 biolink:Disease X-linked intellectual disability, Cabezas type HP:0000023 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000363 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0200021 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:85321 biolink:Disease Deafness-intellectual disability syndrome, Martin-Probst type HP:0000028 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0006709 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature Orphanet:85320 biolink:Disease X-linked intellectual disability-macrocephaly-macroorchidism syndrome HP:0000053 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature Orphanet:85317 biolink:Disease X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome HP:0000175 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002344 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature Orphanet:85329 biolink:Disease X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0000194 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0003189 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature Orphanet:85325 biolink:Disease X-linked intellectual disability, Stevenson type HP:0000098 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000391 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001833 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature HP:0010761 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature Orphanet:85324 biolink:Disease X-linked intellectual disability, Shrimpton type HP:0000252 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:85322 biolink:Disease X-linked intellectual disability, Pai type HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000034 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:85334 biolink:Disease X-linked neurodegenerative syndrome, Bertini type HP:0000608 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0006538 biolink:PhenotypicFeature HP:0200134 biolink:PhenotypicFeature Orphanet:85332 biolink:Disease X-linked intellectual disability-retinitis pigmentosa syndrome HP:0001249 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature Orphanet:85338 biolink:Disease X-linked intellectual disability-ataxia-apraxia syndrome HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002186 biolink:PhenotypicFeature Orphanet:85335 biolink:Disease Fried syndrome HP:0000218 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001264 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002684 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature Orphanet:85336 biolink:Disease X-linked neurodegenerative syndrome, Hamel type HP:0000618 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:85414 biolink:Disease Systemic-onset juvenile idiopathic arthritis HP:0000988 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0005681 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0012122 biolink:PhenotypicFeature Orphanet:85435 biolink:Disease Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis HP:0002829 biolink:PhenotypicFeature HP:0002923 biolink:PhenotypicFeature HP:0005764 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0002813 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0005187 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006252 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0030782 biolink:PhenotypicFeature HP:0040311 biolink:PhenotypicFeature HP:0100769 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0010588 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature Orphanet:86788 biolink:Disease X-linked severe congenital neutropenia HP:0001875 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0012312 biolink:PhenotypicFeature Orphanet:86814 biolink:Disease Benign adult familial myoclonic epilepsy HP:0001249 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0100576 biolink:PhenotypicFeature Orphanet:86918 biolink:Disease Diffuse palmoplantar keratoderma-acrocyanosis syndrome HP:0001063 biolink:PhenotypicFeature HP:0007435 biolink:PhenotypicFeature Orphanet:86818 biolink:Disease Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001646 biolink:PhenotypicFeature HP:0002907 biolink:PhenotypicFeature HP:0004445 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature Orphanet:86893 biolink:Disease Nodular lymphocyte predominant Hodgkin lymphoma HP:0000975 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0005561 biolink:PhenotypicFeature HP:0012191 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:85168 biolink:Disease Craniofacial conodysplasia HP:0000238 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0002176 biolink:PhenotypicFeature HP:0004439 biolink:PhenotypicFeature HP:0010230 biolink:PhenotypicFeature Orphanet:85170 biolink:Disease Mesomelic dysplasia, Savarirayan type HP:0002652 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002868 biolink:PhenotypicFeature HP:0002990 biolink:PhenotypicFeature HP:0003027 biolink:PhenotypicFeature HP:0004018 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006413 biolink:PhenotypicFeature HP:0006434 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0006633 biolink:PhenotypicFeature HP:0008808 biolink:PhenotypicFeature HP:0010508 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature Orphanet:85169 biolink:Disease Familial digital arthropathy-brachydactyly HP:0001156 biolink:PhenotypicFeature HP:0004268 biolink:PhenotypicFeature HP:0005793 biolink:PhenotypicFeature HP:0005819 biolink:PhenotypicFeature HP:0006239 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature Orphanet:85173 biolink:Disease IMAGe syndrome HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000078 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000835 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0100255 biolink:PhenotypicFeature Orphanet:85172 biolink:Disease Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0003311 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004582 biolink:PhenotypicFeature HP:0010230 biolink:PhenotypicFeature HP:0011833 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:85175 biolink:Disease Astley-Kendall dysplasia HP:0002703 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature HP:0010655 biolink:PhenotypicFeature Orphanet:85174 biolink:Disease Pseudodiastrophic dysplasia HP:0000272 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0006243 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature Orphanet:85194 biolink:Disease Spondylo-ocular syndrome HP:0000233 biolink:PhenotypicFeature HP:0000297 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000391 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002942 biolink:PhenotypicFeature HP:0003521 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0005108 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0008063 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature Orphanet:85193 biolink:Disease Idiopathic juvenile osteoporosis HP:0000939 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002953 biolink:PhenotypicFeature Orphanet:85198 biolink:Disease Dysspondyloenchondromatosis HP:0000926 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002657 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002761 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002879 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature HP:0003037 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004039 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005701 biolink:PhenotypicFeature HP:0005868 biolink:PhenotypicFeature HP:0012221 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0100777 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature Orphanet:85197 biolink:Disease Genochondromatosis type 1 HP:0000889 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0005701 biolink:PhenotypicFeature Orphanet:85201 biolink:Disease Genitopatellar syndrome HP:0000003 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000946 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0003175 biolink:PhenotypicFeature HP:0003273 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006443 biolink:PhenotypicFeature HP:0008665 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature Orphanet:85199 biolink:Disease Craniosynostosis-anal anomalies-porokeratosis syndrome HP:0000047 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000561 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002223 biolink:PhenotypicFeature HP:0002697 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0004440 biolink:PhenotypicFeature HP:0004491 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0006660 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0012742 biolink:PhenotypicFeature HP:0100589 biolink:PhenotypicFeature HP:0200044 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature Orphanet:85203 biolink:Disease Acropectoral syndrome HP:0000765 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature Orphanet:85202 biolink:Disease Keutel syndrome HP:0000276 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001027 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0004415 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0011108 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0100593 biolink:PhenotypicFeature HP:0100682 biolink:PhenotypicFeature Orphanet:85212 biolink:Disease Fetal Gaucher disease HP:0000218 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001743 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001989 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0003811 biolink:PhenotypicFeature HP:0003826 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007479 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature Orphanet:85273 biolink:Disease X-linked intellectual disability, Abidi type HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature Orphanet:85274 biolink:Disease Syndromic X-linked intellectual disability 7 HP:0000028 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000692 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002546 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature Orphanet:85275 biolink:Disease Microphthalmia-ankyloblepharon-intellectual disability syndrome HP:0000528 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0009755 biolink:PhenotypicFeature Orphanet:85276 biolink:Disease X-linked intellectual disability, Armfield type HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000996 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001377 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001992 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005306 biolink:PhenotypicFeature HP:0007413 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012023 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0400004 biolink:PhenotypicFeature Orphanet:85277 biolink:Disease X-linked intellectual disability, Cantagrel type HP:0000049 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature Orphanet:85278 biolink:Disease Christianson syndrome HP:0000252 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000366 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000748 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002529 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0100024 biolink:PhenotypicFeature HP:0100613 biolink:PhenotypicFeature Orphanet:85279 biolink:Disease KDM5C-related syndromic X-linked intellectual disability HP:0000028 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002229 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:85280 biolink:Disease X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature Orphanet:85282 biolink:Disease MEHMO syndrome HP:0000028 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009748 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature Orphanet:85283 biolink:Disease X-linked intellectual disability, Miles-Carpenter type HP:0000135 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:85284 biolink:Disease BRESEK syndrome HP:0000028 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0003811 biolink:PhenotypicFeature HP:0005343 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature Orphanet:85286 biolink:Disease X-linked intellectual disability, Shashi type HP:0000053 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature Orphanet:85287 biolink:Disease X-linked intellectual disability, Siderius type HP:0000028 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature Orphanet:79435 biolink:Disease Oculocutaneous albinism type 4 HP:0000639 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0007750 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001022 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001107 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0011364 biolink:PhenotypicFeature HP:0025551 biolink:PhenotypicFeature HP:0003764 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature Orphanet:79434 biolink:Disease Oculocutaneous albinism type 1B HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001022 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001480 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0006739 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0007750 biolink:PhenotypicFeature Orphanet:79503 biolink:Disease Ichthyosis hystrix of Curth-Macklin HP:0000962 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0007435 biolink:PhenotypicFeature HP:0007460 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0011889 biolink:PhenotypicFeature Orphanet:79478 biolink:Disease Griscelli syndrome type 3 HP:0005599 biolink:PhenotypicFeature HP:0007443 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature Orphanet:79477 biolink:Disease Griscelli syndrome type 2 HP:0000952 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007443 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0012156 biolink:PhenotypicFeature Orphanet:79476 biolink:Disease Griscelli syndrome type 1 HP:0000488 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0007443 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0011364 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:83619 biolink:Disease Macrostomia-preauricular tags-external ophthalmoplegia syndrome HP:0000154 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0011272 biolink:PhenotypicFeature HP:0011338 biolink:PhenotypicFeature Orphanet:83628 biolink:Disease LUMBAR syndrome HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000059 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000075 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000136 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0002836 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0010609 biolink:PhenotypicFeature Orphanet:83469 biolink:Disease Desmoplastic small round cell tumor HP:0001541 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002585 biolink:PhenotypicFeature HP:0002595 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002894 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0010788 biolink:PhenotypicFeature HP:0100006 biolink:PhenotypicFeature HP:0100242 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature HP:0100615 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature Orphanet:83473 biolink:Disease Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome HP:0000160 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001355 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0005105 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0100542 biolink:PhenotypicFeature Orphanet:83461 biolink:Disease Congenital primary aphakia HP:0000504 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000647 biolink:PhenotypicFeature HP:0007707 biolink:PhenotypicFeature HP:0007973 biolink:PhenotypicFeature HP:0008062 biolink:PhenotypicFeature Orphanet:83465 biolink:Disease Narcolepsy type 2 HP:0000708 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature Orphanet:83317 biolink:Disease Scrub typhus HP:0000083 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0012122 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature Orphanet:85165 biolink:Disease Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0000252 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002980 biolink:PhenotypicFeature HP:0002982 biolink:PhenotypicFeature HP:0005871 biolink:PhenotypicFeature HP:0009118 biolink:PhenotypicFeature HP:0010502 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012081 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature Orphanet:85166 biolink:Disease Platyspondylic dysplasia, Torrance type HP:0000175 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000882 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001191 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003021 biolink:PhenotypicFeature HP:0003090 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0008839 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature Orphanet:85163 biolink:Disease Hypomyelination-congenital cataract syndrome HP:0000519 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0006808 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature Orphanet:85164 biolink:Disease Camptodactyly-tall stature-scoliosis-hearing loss syndrome HP:0000365 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100491 biolink:PhenotypicFeature Orphanet:85112 biolink:Disease Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome HP:0000982 biolink:PhenotypicFeature HP:0006739 biolink:PhenotypicFeature HP:0012245 biolink:PhenotypicFeature Orphanet:85162 biolink:Disease Facial onset sensory and motor neuronopathy HP:0001260 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature Orphanet:84085 biolink:Disease Hinman syndrome HP:0000010 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000805 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature Orphanet:84090 biolink:Disease Fibronectin glomerulopathy HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0001966 biolink:PhenotypicFeature HP:0002907 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature Orphanet:79325 biolink:Disease ALG8-CDG HP:0000707 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003256 biolink:PhenotypicFeature HP:0003642 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0011121 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000973 biolink:PhenotypicFeature HP:0001001 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001929 biolink:PhenotypicFeature HP:0001976 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002352 biolink:PhenotypicFeature HP:0002415 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0005543 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0100678 biolink:PhenotypicFeature Orphanet:79394 biolink:Disease Congenital non-bullous ichthyosiform erythroderma HP:0000365 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001019 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0200020 biolink:PhenotypicFeature Orphanet:79396 biolink:Disease Autosomal dominant generalized epidermolysis bullosa simplex, severe form HP:0000982 biolink:PhenotypicFeature HP:0001030 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0001057 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0007589 biolink:PhenotypicFeature HP:0007599 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100699 biolink:PhenotypicFeature HP:0200097 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001600 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001805 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002780 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0005483 biolink:PhenotypicFeature HP:0006934 biolink:PhenotypicFeature HP:0007483 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0010298 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0006739 biolink:PhenotypicFeature Orphanet:79357 biolink:Disease Hereditary palmoplantar keratoderma HP:0000982 biolink:PhenotypicFeature HP:0009775 biolink:PhenotypicFeature Orphanet:79358 biolink:Disease Porokeratosis HP:0000962 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0006739 biolink:PhenotypicFeature Orphanet:79402 biolink:Disease Intermediate generalized junctional epidermolysis bullosa HP:0000982 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0001057 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001798 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0004552 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0200097 biolink:PhenotypicFeature Orphanet:79403 biolink:Disease Junctional epidermolysis bullosa with pyloric atresia HP:0002017 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0004399 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0011100 biolink:PhenotypicFeature HP:0200097 biolink:PhenotypicFeature HP:0000070 biolink:PhenotypicFeature HP:0000075 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0010477 biolink:PhenotypicFeature HP:0012227 biolink:PhenotypicFeature HP:0100577 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0001057 biolink:PhenotypicFeature HP:0001059 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature Orphanet:79405 biolink:Disease Junctional epidermolysis bullosa inversa HP:0012252 biolink:PhenotypicFeature HP:0031464 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0011355 biolink:PhenotypicFeature HP:0001030 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0001798 biolink:PhenotypicFeature HP:0004386 biolink:PhenotypicFeature HP:0020117 biolink:PhenotypicFeature HP:0200097 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001965 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0004057 biolink:PhenotypicFeature HP:0010562 biolink:PhenotypicFeature HP:0012056 biolink:PhenotypicFeature Orphanet:79397 biolink:Disease Epidermolysis bullosa simplex with mottled pigmentation HP:0001070 biolink:PhenotypicFeature HP:0003341 biolink:PhenotypicFeature HP:0007427 biolink:PhenotypicFeature HP:0007585 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0009123 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0005590 biolink:PhenotypicFeature HP:0007556 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0009719 biolink:PhenotypicFeature HP:0010765 biolink:PhenotypicFeature HP:0045059 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0200097 biolink:PhenotypicFeature Orphanet:79400 biolink:Disease Localized epidermolysis bullosa simplex HP:0000989 biolink:PhenotypicFeature HP:0003341 biolink:PhenotypicFeature HP:0007446 biolink:PhenotypicFeature HP:0007497 biolink:PhenotypicFeature HP:0007585 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0025238 biolink:PhenotypicFeature HP:0002046 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003489 biolink:PhenotypicFeature HP:0012513 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0007556 biolink:PhenotypicFeature HP:0010765 biolink:PhenotypicFeature HP:0031446 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0030350 biolink:PhenotypicFeature HP:0200097 biolink:PhenotypicFeature HP:0009123 biolink:PhenotypicFeature Orphanet:79401 biolink:Disease PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement HP:0000982 biolink:PhenotypicFeature HP:0001030 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0007446 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0020073 biolink:PhenotypicFeature HP:0031045 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002012 biolink:PhenotypicFeature Orphanet:79430 biolink:Disease Hermansky-Pudlak syndrome HP:0000639 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0007443 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001107 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0400008 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001872 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0006739 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:79431 biolink:Disease Oculocutaneous albinism type 1A HP:0000505 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001022 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001107 biolink:PhenotypicFeature HP:0001480 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0006739 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0007750 biolink:PhenotypicFeature Orphanet:79432 biolink:Disease Oculocutaneous albinism type 2 HP:0000539 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000635 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001100 biolink:PhenotypicFeature HP:0001480 biolink:PhenotypicFeature HP:0002226 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0007750 biolink:PhenotypicFeature HP:0007988 biolink:PhenotypicFeature HP:0011364 biolink:PhenotypicFeature HP:0012805 biolink:PhenotypicFeature HP:0025551 biolink:PhenotypicFeature HP:0002227 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0006739 biolink:PhenotypicFeature HP:0012056 biolink:PhenotypicFeature HP:0030856 biolink:PhenotypicFeature HP:0200098 biolink:PhenotypicFeature HP:0007481 biolink:PhenotypicFeature Orphanet:79406 biolink:Disease Late-onset junctional epidermolysis bullosa HP:0001030 biolink:PhenotypicFeature HP:0001798 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0007455 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0011355 biolink:PhenotypicFeature HP:0020117 biolink:PhenotypicFeature HP:0200097 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001965 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0004057 biolink:PhenotypicFeature HP:0004386 biolink:PhenotypicFeature HP:0010562 biolink:PhenotypicFeature HP:0012056 biolink:PhenotypicFeature HP:0012252 biolink:PhenotypicFeature HP:0031464 biolink:PhenotypicFeature Orphanet:94066 biolink:Disease Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia HP:0000175 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0009835 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0010185 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:95496 biolink:Disease Pituitary stalk interruption syndrome HP:0011755 biolink:PhenotypicFeature HP:0000864 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000835 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0100842 biolink:PhenotypicFeature Orphanet:95429 biolink:Disease Angioma serpiginosum HP:0007797 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011276 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature Orphanet:95626 biolink:Disease Acquired central diabetes insipidus HP:0000873 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0100515 biolink:PhenotypicFeature Orphanet:93929 biolink:Disease Cloacal exstrophy HP:0000056 biolink:PhenotypicFeature HP:0000070 biolink:PhenotypicFeature HP:0000072 biolink:PhenotypicFeature HP:0000074 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000086 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002836 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010475 biolink:PhenotypicFeature HP:0011027 biolink:PhenotypicFeature HP:0011301 biolink:PhenotypicFeature HP:0100668 biolink:PhenotypicFeature Orphanet:93928 biolink:Disease Isolated epispadias HP:0030911 biolink:PhenotypicFeature HP:0000039 biolink:PhenotypicFeature HP:0008648 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0002644 biolink:PhenotypicFeature Orphanet:93946 biolink:Disease Hamel cerebro-palato-cardiac syndrome HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000378 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:93930 biolink:Disease Bladder exstrophy HP:0000010 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000039 biolink:PhenotypicFeature HP:0000056 biolink:PhenotypicFeature HP:0000069 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0002836 biolink:PhenotypicFeature HP:0004378 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature Orphanet:94063 biolink:Disease 12q14 microdeletion syndrome HP:0000085 biolink:PhenotypicFeature HP:0000086 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001743 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005288 biolink:PhenotypicFeature HP:0010739 biolink:PhenotypicFeature Orphanet:93947 biolink:Disease X-linked intellectual disability, Golabi-Ito-Hall type HP:0000158 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000378 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001264 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0002299 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0011359 biolink:PhenotypicFeature Orphanet:94064 biolink:Disease Deafness-infertility syndrome HP:0000027 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0003251 biolink:PhenotypicFeature Orphanet:93404 biolink:Disease Syndactyly type 3 HP:0001831 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:93405 biolink:Disease Syndactyly type 4 HP:0001161 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001501 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001829 biolink:PhenotypicFeature HP:0005736 biolink:PhenotypicFeature HP:0010708 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:93406 biolink:Disease Syndactyly type 5 HP:0001440 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0006097 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0009701 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:93409 biolink:Disease Brachydactyly-syndactyly, Zhao type HP:0001770 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0004220 biolink:PhenotypicFeature HP:0004704 biolink:PhenotypicFeature HP:0009577 biolink:PhenotypicFeature HP:0009773 biolink:PhenotypicFeature HP:0010047 biolink:PhenotypicFeature Orphanet:93473 biolink:Disease Hurler syndrome HP:0000158 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0000940 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0001706 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0003275 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008155 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012384 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0040129 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100729 biolink:PhenotypicFeature HP:0100765 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:93474 biolink:Disease Scheie syndrome HP:0000154 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008155 biolink:PhenotypicFeature HP:0012384 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0040129 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature Orphanet:93476 biolink:Disease Hurler-Scheie syndrome HP:0000280 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0012384 biolink:PhenotypicFeature HP:0040129 biolink:PhenotypicFeature HP:0100765 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:93672 biolink:Disease Juvenile dermatomyositis HP:0000958 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001029 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0003761 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011710 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0100579 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:93387 biolink:Disease Brachydactyly type E HP:0000256 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005863 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010076 biolink:PhenotypicFeature HP:0010743 biolink:PhenotypicFeature HP:0100560 biolink:PhenotypicFeature Orphanet:93388 biolink:Disease Brachydactyly type A1 HP:0001204 biolink:PhenotypicFeature HP:0001230 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005819 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0010109 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature Orphanet:93394 biolink:Disease Brachydactyly type A4 HP:0001762 biolink:PhenotypicFeature HP:0004220 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006239 biolink:PhenotypicFeature HP:0009577 biolink:PhenotypicFeature HP:0009773 biolink:PhenotypicFeature Orphanet:93396 biolink:Disease Brachydactyly type A2 HP:0001773 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004220 biolink:PhenotypicFeature HP:0005819 biolink:PhenotypicFeature HP:0009372 biolink:PhenotypicFeature HP:0009568 biolink:PhenotypicFeature HP:0010038 biolink:PhenotypicFeature Orphanet:93402 biolink:Disease Syndactyly type 1 HP:0001770 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0009773 biolink:PhenotypicFeature Orphanet:93403 biolink:Disease Syndactyly type 2 HP:0001163 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001830 biolink:PhenotypicFeature HP:0001841 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0006097 biolink:PhenotypicFeature HP:0009773 biolink:PhenotypicFeature HP:0100260 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:93359 biolink:Disease Spondyloepimetaphyseal dysplasia with joint laxity HP:0000944 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0004568 biolink:PhenotypicFeature HP:0006439 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000946 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001377 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003015 biolink:PhenotypicFeature HP:0003083 biolink:PhenotypicFeature HP:0006543 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0011341 biolink:PhenotypicFeature Orphanet:93384 biolink:Disease Brachydactyly type C HP:0001231 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005819 biolink:PhenotypicFeature HP:0009373 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0009495 biolink:PhenotypicFeature HP:0009606 biolink:PhenotypicFeature HP:0009684 biolink:PhenotypicFeature HP:0009773 biolink:PhenotypicFeature HP:0010026 biolink:PhenotypicFeature HP:0010508 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature HP:0010743 biolink:PhenotypicFeature Orphanet:93383 biolink:Disease Brachydactyly type B HP:0001773 biolink:PhenotypicFeature HP:0001817 biolink:PhenotypicFeature HP:0005831 biolink:PhenotypicFeature HP:0008083 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0009773 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature Orphanet:93351 biolink:Disease Spondyloepimetaphyseal dysplasia, Irapa type HP:0000768 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001169 biolink:PhenotypicFeature HP:0001191 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001367 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001769 biolink:PhenotypicFeature HP:0002651 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0008839 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature HP:0009824 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010743 biolink:PhenotypicFeature Orphanet:93328 biolink:Disease Autosomal dominant omodysplasia HP:0000028 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005792 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0010034 biolink:PhenotypicFeature Orphanet:93317 biolink:Disease Spondylometaphyseal dysplasia, Sedaghatian type HP:0000262 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000782 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001678 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002657 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003085 biolink:PhenotypicFeature HP:0003498 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004991 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0005871 biolink:PhenotypicFeature HP:0006543 biolink:PhenotypicFeature HP:0008786 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature Orphanet:93302 biolink:Disease Brachyolmia, Maroteaux type HP:0000767 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0010653 biolink:PhenotypicFeature Orphanet:93298 biolink:Disease Achondrogenesis type 1B HP:0000256 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000476 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003336 biolink:PhenotypicFeature HP:0003498 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0005716 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100541 biolink:PhenotypicFeature Orphanet:93299 biolink:Disease Achondrogenesis type 1A HP:0000256 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000476 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0003336 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0005716 biolink:PhenotypicFeature HP:0006640 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100541 biolink:PhenotypicFeature Orphanet:93304 biolink:Disease Autosomal dominant brachyolmia HP:0000926 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004570 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature Orphanet:93267 biolink:Disease Cloverleaf skull-multiple congenital anomalies syndrome HP:0000062 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002676 biolink:PhenotypicFeature HP:0002691 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0004331 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature Orphanet:93271 biolink:Disease Short rib-polydactyly syndrome, Verma-Naumoff type HP:0000028 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000773 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0002006 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002032 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002612 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0003762 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0004599 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005716 biolink:PhenotypicFeature HP:0008716 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature HP:0009106 biolink:PhenotypicFeature HP:0010297 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0010564 biolink:PhenotypicFeature Orphanet:93260 biolink:Disease Pfeiffer syndrome type 3 HP:0000076 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000244 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000402 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002410 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002779 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008080 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0010109 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:93262 biolink:Disease Crouzon syndrome-acanthosis nigricans syndrome HP:0000174 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000262 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0005107 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0100533 biolink:PhenotypicFeature Orphanet:93274 biolink:Disease Thanatophoric dysplasia type 2 HP:0000077 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002676 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0010880 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:93283 biolink:Disease Spondyloepiphyseal dysplasia, Kimberley type HP:0000926 biolink:PhenotypicFeature HP:0002655 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003508 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature Orphanet:93256 biolink:Disease Fragile X-associated tremor/ataxia syndrome HP:0000716 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012534 biolink:PhenotypicFeature HP:0030216 biolink:PhenotypicFeature HP:0100275 biolink:PhenotypicFeature HP:0100515 biolink:PhenotypicFeature Orphanet:93160 biolink:Disease Hypocalcemic vitamin D-resistant rickets HP:0000164 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000843 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002148 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002749 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003330 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006323 biolink:PhenotypicFeature HP:0009124 biolink:PhenotypicFeature HP:0012062 biolink:PhenotypicFeature HP:0100670 biolink:PhenotypicFeature Orphanet:93259 biolink:Disease Pfeiffer syndrome type 2 HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002410 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002676 biolink:PhenotypicFeature HP:0002779 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008080 biolink:PhenotypicFeature HP:0009603 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0010109 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:93258 biolink:Disease Pfeiffer syndrome type 1 HP:0000218 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002410 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008080 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0010109 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0011318 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:93111 biolink:Disease HNF1B-related autosomal dominant tubulointerstitial kidney disease HP:0000003 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000813 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0001994 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0005584 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0009715 biolink:PhenotypicFeature HP:0012092 biolink:PhenotypicFeature HP:0012093 biolink:PhenotypicFeature HP:0012873 biolink:PhenotypicFeature HP:0100800 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature Orphanet:91546 biolink:Disease Lyme disease HP:0000554 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001678 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100576 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature Orphanet:91132 biolink:Disease Ichthyosis-hypotrichosis syndrome HP:0001006 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature Orphanet:91138 biolink:Disease Cryoglobulinemic vasculitis HP:0000965 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0012224 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature HP:0100778 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0005244 biolink:PhenotypicFeature HP:0006562 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0009831 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature Orphanet:90970 biolink:Disease Primary lipodystrophy HP:0000147 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0000991 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002635 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003712 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0400008 biolink:PhenotypicFeature Orphanet:90650 biolink:Disease Otopalatodigital syndrome type 1 HP:0000175 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000674 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001850 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002684 biolink:PhenotypicFeature HP:0002738 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005640 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010109 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature Orphanet:90652 biolink:Disease Otopalatodigital syndrome type 2 HP:0000047 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000162 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000201 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000674 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0001087 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002684 biolink:PhenotypicFeature HP:0002990 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005640 biolink:PhenotypicFeature HP:0006000 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0009702 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0010109 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0100258 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002738 biolink:PhenotypicFeature HP:0002869 biolink:PhenotypicFeature Orphanet:90653 biolink:Disease Stickler syndrome type 1 HP:0000327 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004327 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0100734 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature Orphanet:90654 biolink:Disease Stickler syndrome type 2 HP:0000407 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0004327 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature Orphanet:90354 biolink:Disease Brittle cornea syndrome HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000559 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0000977 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001119 biolink:PhenotypicFeature HP:0001131 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0009887 biolink:PhenotypicFeature HP:0011003 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0100689 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature HP:0200020 biolink:PhenotypicFeature Orphanet:90340 biolink:Disease Blau syndrome HP:0000112 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000610 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001094 biolink:PhenotypicFeature HP:0001291 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0004942 biolink:PhenotypicFeature HP:0005310 biolink:PhenotypicFeature HP:0005764 biolink:PhenotypicFeature HP:0006770 biolink:PhenotypicFeature HP:0008046 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0010286 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012123 biolink:PhenotypicFeature HP:0012219 biolink:PhenotypicFeature HP:0012647 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100654 biolink:PhenotypicFeature HP:0100769 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:90342 biolink:Disease Xeroderma pigmentosum variant HP:0000491 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001009 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001029 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0007603 biolink:PhenotypicFeature Orphanet:90348 biolink:Disease Autosomal dominant cutis laxa HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002256 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0004969 biolink:PhenotypicFeature HP:0005989 biolink:PhenotypicFeature HP:0006698 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0010648 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011950 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012330 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature HP:0100512 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001884 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0002677 biolink:PhenotypicFeature HP:0002816 biolink:PhenotypicFeature HP:0000973 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0007522 biolink:PhenotypicFeature HP:0025167 biolink:PhenotypicFeature HP:0100678 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0004942 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0010674 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature HP:0000015 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature Orphanet:90308 biolink:Disease Klippel-Trénaunay syndrome HP:0000098 biolink:PhenotypicFeature HP:0000140 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001702 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001935 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003010 biolink:PhenotypicFeature HP:0004414 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0005293 biolink:PhenotypicFeature HP:0011029 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0100560 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0100724 biolink:PhenotypicFeature HP:0100784 biolink:PhenotypicFeature Orphanet:90154 biolink:Disease Mandibuloacral dysplasia with type B lipodystrophy HP:0000160 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0001211 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001870 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003761 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0005328 biolink:PhenotypicFeature HP:0006710 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0009064 biolink:PhenotypicFeature HP:0009839 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature Orphanet:90153 biolink:Disease Mandibuloacral dysplasia with type A lipodystrophy HP:0000164 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000561 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001870 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0005328 biolink:PhenotypicFeature HP:0006710 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0009839 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0100679 biolink:PhenotypicFeature HP:0100783 biolink:PhenotypicFeature Orphanet:90045 biolink:Disease Hereditary folate malabsorption HP:0000010 biolink:PhenotypicFeature HP:0000206 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0001889 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002715 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100825 biolink:PhenotypicFeature Orphanet:90042 biolink:Disease Primary familial polycythemia HP:0000421 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001901 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0011902 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature Orphanet:90037 biolink:Disease Drug-induced autoimmune hemolytic anemia HP:0000980 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001890 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0003573 biolink:PhenotypicFeature HP:0012086 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:90036 biolink:Disease Mixed-type autoimmune hemolytic anemia HP:0000980 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001890 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003573 biolink:PhenotypicFeature HP:0012086 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:90035 biolink:Disease Paroxysmal cold hemoglobinuria HP:0001890 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003641 biolink:PhenotypicFeature HP:0004844 biolink:PhenotypicFeature HP:0012086 biolink:PhenotypicFeature Orphanet:90033 biolink:Disease Autoimmune hemolytic anemia, warm type HP:0000952 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001890 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0005523 biolink:PhenotypicFeature HP:0005550 biolink:PhenotypicFeature HP:0012086 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:90024 biolink:Disease Deafness with labyrinthine aplasia, microtia, and microdontia HP:0000098 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000698 biolink:PhenotypicFeature HP:0001291 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0010609 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0011372 biolink:PhenotypicFeature Orphanet:90023 biolink:Disease Primary immunodeficiency syndrome due to LAMTOR2 deficiency HP:0000280 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0006538 biolink:PhenotypicFeature HP:0007443 biolink:PhenotypicFeature Orphanet:90000 biolink:Disease Erythema elevatum diutinum HP:0000988 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0200029 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature Orphanet:89937 biolink:Disease Autosomal dominant hypophosphatemic rickets HP:0002148 biolink:PhenotypicFeature HP:0003109 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001891 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002748 biolink:PhenotypicFeature HP:0002749 biolink:PhenotypicFeature HP:0002979 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030757 biolink:PhenotypicFeature HP:0100512 biolink:PhenotypicFeature HP:0020110 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature Orphanet:88637 biolink:Disease Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome HP:0000668 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0003429 biolink:PhenotypicFeature Orphanet:88639 biolink:Disease Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency HP:0001252 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002344 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0003287 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0011334 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002352 biolink:PhenotypicFeature HP:0012697 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0002599 biolink:PhenotypicFeature Orphanet:88621 biolink:Disease Ichthyosis-prematurity syndrome HP:0001622 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0007549 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature Orphanet:88635 biolink:Disease Vacuolar myopathy with sarcoplasmic reticulum protein aggregates HP:0003198 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature Orphanet:87876 biolink:Disease Sialidosis type 2 HP:0000023 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000943 biolink:PhenotypicFeature HP:0001103 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005561 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:86919 biolink:Disease Keratosis palmaris et plantaris-clinodactyly syndrome HP:0000975 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0007435 biolink:PhenotypicFeature Orphanet:86923 biolink:Disease Hereditary palmoplantar keratoderma, Gamborg-Nielsen type HP:0007390 biolink:PhenotypicFeature HP:0007435 biolink:PhenotypicFeature Orphanet:140966 biolink:Disease Palmoplantar keratoderma, Nagashima type HP:0000975 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature Orphanet:157801 biolink:Disease Mesoaxial synostotic syndactyly with phalangeal reduction HP:0001770 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008362 biolink:PhenotypicFeature HP:0009701 biolink:PhenotypicFeature HP:0009773 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0009843 biolink:PhenotypicFeature HP:0010109 biolink:PhenotypicFeature Orphanet:157965 biolink:Disease SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome HP:0000494 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0003071 biolink:PhenotypicFeature HP:0003370 biolink:PhenotypicFeature HP:0003393 biolink:PhenotypicFeature HP:0006429 biolink:PhenotypicFeature HP:0008848 biolink:PhenotypicFeature HP:0010489 biolink:PhenotypicFeature HP:0100864 biolink:PhenotypicFeature Orphanet:157973 biolink:Disease Congenital muscular dystrophy due to LMNA mutation HP:0000774 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003327 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature Orphanet:157991 biolink:Disease Generalized eruptive histiocytosis HP:0025475 biolink:PhenotypicFeature HP:0030350 biolink:PhenotypicFeature HP:0100727 biolink:PhenotypicFeature HP:0040186 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0031901 biolink:PhenotypicFeature HP:0032061 biolink:PhenotypicFeature HP:0040126 biolink:PhenotypicFeature HP:0001909 biolink:PhenotypicFeature HP:0005585 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0031871 biolink:PhenotypicFeature Orphanet:157997 biolink:Disease Benign cephalic histiocytosis HP:0000988 biolink:PhenotypicFeature HP:0100727 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature Orphanet:158000 biolink:Disease Juvenile xanthogranuloma HP:0000498 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0001101 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0005547 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0011830 biolink:PhenotypicFeature HP:0011886 biolink:PhenotypicFeature HP:0200064 biolink:PhenotypicFeature Orphanet:158003 biolink:Disease Xanthoma disseminatum HP:0000159 biolink:PhenotypicFeature HP:0000600 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0001600 biolink:PhenotypicFeature HP:0002109 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature Orphanet:158014 biolink:Disease Rosaï-Dorfman disease HP:0001250 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002961 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0010550 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:158022 biolink:Disease Progressive nodular histiocytosis HP:0001482 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:158025 biolink:Disease Hereditary progressive mucinous histiocytosis HP:0025475 biolink:PhenotypicFeature HP:0030350 biolink:PhenotypicFeature HP:0040138 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0031871 biolink:PhenotypicFeature Orphanet:137608 biolink:Disease Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome HP:0000256 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0005293 biolink:PhenotypicFeature HP:0007392 biolink:PhenotypicFeature HP:0010566 biolink:PhenotypicFeature HP:0100013 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature HP:0100031 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0100560 biolink:PhenotypicFeature HP:0100615 biolink:PhenotypicFeature HP:0100761 biolink:PhenotypicFeature HP:0100764 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:137817 biolink:Disease Arachnoiditis HP:0000238 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0000970 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:139402 biolink:Disease Drug reaction with eosinophilia and systemic symptoms HP:0000083 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001019 biolink:PhenotypicFeature HP:0001695 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0006515 biolink:PhenotypicFeature HP:0006554 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0030249 biolink:PhenotypicFeature HP:0100326 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature HP:0100665 biolink:PhenotypicFeature HP:0100827 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature Orphanet:137831 biolink:Disease X-linked intellectual disability-cerebellar hypoplasia syndrome HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0000817 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002951 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0400000 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002280 biolink:PhenotypicFeature HP:0002340 biolink:PhenotypicFeature HP:0006817 biolink:PhenotypicFeature HP:0006913 biolink:PhenotypicFeature HP:0006951 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007112 biolink:PhenotypicFeature Orphanet:139411 biolink:Disease Carney triad HP:0000822 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002666 biolink:PhenotypicFeature HP:0002668 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002717 biolink:PhenotypicFeature HP:0008256 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100243 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature HP:0100723 biolink:PhenotypicFeature Orphanet:139406 biolink:Disease Encephalopathy due to prosaposin deficiency HP:0000496 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature Orphanet:139450 biolink:Disease Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome HP:0000564 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature Orphanet:139436 biolink:Disease Multicentric reticulohistiocytosis HP:0001324 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0100727 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature Orphanet:139474 biolink:Disease 17q11.2 microduplication syndrome HP:0000053 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000535 biolink:PhenotypicFeature HP:0000653 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004411 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature HP:0011803 biolink:PhenotypicFeature Orphanet:139471 biolink:Disease Microphthalmia with brain and digit anomalies HP:0000028 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000647 biolink:PhenotypicFeature HP:0000864 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001830 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007068 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature Orphanet:139491 biolink:Disease Hemochromatosis type 4 HP:0001373 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002612 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003281 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature Orphanet:140952 biolink:Disease Syndactyly-telecanthus-anogenital and renal malformations syndrome HP:0000057 biolink:PhenotypicFeature HP:0000066 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000086 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000394 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000625 biolink:PhenotypicFeature HP:0000813 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004415 biolink:PhenotypicFeature HP:0007754 biolink:PhenotypicFeature HP:0011560 biolink:PhenotypicFeature Orphanet:140908 biolink:Disease Brachydactyly type B2 HP:0001773 biolink:PhenotypicFeature HP:0001817 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0001857 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0005831 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0009773 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature Orphanet:100006 biolink:Disease ABeta amyloidosis, Dutch type HP:0000708 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0011970 biolink:PhenotypicFeature HP:0100613 biolink:PhenotypicFeature Orphanet:100008 biolink:Disease ACys amyloidosis HP:0001297 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0011034 biolink:PhenotypicFeature HP:0011970 biolink:PhenotypicFeature HP:0100613 biolink:PhenotypicFeature Orphanet:99977 biolink:Disease Squamous cell carcinoma of the esophagus HP:0001608 biolink:PhenotypicFeature HP:0001864 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0011459 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:99978 biolink:Disease Klatskin tumor HP:0000952 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0012334 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030153 biolink:PhenotypicFeature Orphanet:100026 biolink:Disease Gamma-heavy chain disease HP:0000174 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001370 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001890 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001973 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0004332 biolink:PhenotypicFeature HP:0005561 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100648 biolink:PhenotypicFeature Orphanet:100073 biolink:Disease Neurogenic thoracic outlet syndrome HP:0000763 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0012534 biolink:PhenotypicFeature Orphanet:100024 biolink:Disease Mu-heavy chain disease HP:0000112 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0005561 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0010975 biolink:PhenotypicFeature HP:0030156 biolink:PhenotypicFeature Orphanet:100025 biolink:Disease Alpha-heavy chain disease HP:0001510 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002244 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002961 biolink:PhenotypicFeature HP:0100805 biolink:PhenotypicFeature Orphanet:100976 biolink:Disease Bathing suit ichthyosis HP:0001072 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0025092 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0001019 biolink:PhenotypicFeature HP:0001036 biolink:PhenotypicFeature HP:0007460 biolink:PhenotypicFeature HP:0007479 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature HP:0012472 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0000972 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0025524 biolink:PhenotypicFeature Orphanet:101041 biolink:Disease Familial hypofibrinogenemia HP:0000225 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature Orphanet:100100 biolink:Disease Thymic tumor HP:0000508 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001695 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0002961 biolink:PhenotypicFeature HP:0003473 biolink:PhenotypicFeature HP:0006597 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100521 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0100634 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:101078 biolink:Disease X-linked Charcot-Marie-Tooth disease type 4 HP:0000365 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature Orphanet:101075 biolink:Disease X-linked Charcot-Marie-Tooth disease type 1 HP:0000763 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0007149 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0040129 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature Orphanet:99925 biolink:Disease Invasive mole HP:0011433 biolink:PhenotypicFeature HP:0400008 biolink:PhenotypicFeature Orphanet:99889 biolink:Disease Cushing syndrome due to ectopic ACTH secretion HP:0000819 biolink:PhenotypicFeature HP:0003118 biolink:PhenotypicFeature HP:0003154 biolink:PhenotypicFeature HP:0003466 biolink:PhenotypicFeature HP:0012030 biolink:PhenotypicFeature HP:0030200 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001050 biolink:PhenotypicFeature HP:0001058 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001065 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0004324 biolink:PhenotypicFeature HP:0007126 biolink:PhenotypicFeature HP:0008221 biolink:PhenotypicFeature HP:0010284 biolink:PhenotypicFeature HP:0012743 biolink:PhenotypicFeature HP:0025017 biolink:PhenotypicFeature HP:0025383 biolink:PhenotypicFeature HP:0025406 biolink:PhenotypicFeature HP:0030348 biolink:PhenotypicFeature HP:0031364 biolink:PhenotypicFeature HP:0031845 biolink:PhenotypicFeature HP:0031891 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0500011 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000725 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002733 biolink:PhenotypicFeature HP:0002953 biolink:PhenotypicFeature HP:0006749 biolink:PhenotypicFeature HP:0011370 biolink:PhenotypicFeature HP:0012398 biolink:PhenotypicFeature HP:0030405 biolink:PhenotypicFeature HP:0030446 biolink:PhenotypicFeature HP:0031284 biolink:PhenotypicFeature HP:0031589 biolink:PhenotypicFeature HP:0040270 biolink:PhenotypicFeature HP:0100521 biolink:PhenotypicFeature HP:0100634 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0002666 biolink:PhenotypicFeature HP:0002865 biolink:PhenotypicFeature HP:0006722 biolink:PhenotypicFeature HP:0006725 biolink:PhenotypicFeature HP:0006753 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0011999 biolink:PhenotypicFeature HP:0012125 biolink:PhenotypicFeature HP:0025269 biolink:PhenotypicFeature HP:0030357 biolink:PhenotypicFeature HP:0030445 biolink:PhenotypicFeature HP:0100757 biolink:PhenotypicFeature HP:0500167 biolink:PhenotypicFeature HP:0002690 biolink:PhenotypicFeature HP:0008291 biolink:PhenotypicFeature Orphanet:99966 biolink:Disease Atypical teratoid rhabdoid tumor HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0100836 biolink:PhenotypicFeature Orphanet:99965 biolink:Disease O'Sullivan-McLeod syndrome HP:0003457 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0008954 biolink:PhenotypicFeature HP:0030237 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0003444 biolink:PhenotypicFeature HP:0006827 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0031372 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0040272 biolink:PhenotypicFeature Orphanet:99928 biolink:Disease Placental site trophoblastic tumor HP:0000141 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0011434 biolink:PhenotypicFeature HP:0100608 biolink:PhenotypicFeature Orphanet:99927 biolink:Disease Hydatidiform mole HP:0000836 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0100602 biolink:PhenotypicFeature HP:0100878 biolink:PhenotypicFeature HP:0400008 biolink:PhenotypicFeature Orphanet:99976 biolink:Disease Adenocarcinoma of the esophagus HP:0001513 biolink:PhenotypicFeature HP:0001864 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0011459 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100580 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:99971 biolink:Disease Well-differentiated liposarcoma HP:0001482 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0012211 biolink:PhenotypicFeature Orphanet:99969 biolink:Disease Pleomorphic liposarcoma HP:0012034 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature Orphanet:99967 biolink:Disease Myxoid/round cell liposarcoma HP:0001482 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature Orphanet:99824 biolink:Disease Lassa fever HP:0001945 biolink:PhenotypicFeature HP:0003496 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0020071 biolink:PhenotypicFeature HP:0025406 biolink:PhenotypicFeature HP:0400008 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025439 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0000282 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0031273 biolink:PhenotypicFeature HP:0100520 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:99825 biolink:Disease Nipah virus disease HP:0000751 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100776 biolink:PhenotypicFeature Orphanet:99803 biolink:Disease Haddad syndrome HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002271 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0003005 biolink:PhenotypicFeature HP:0003006 biolink:PhenotypicFeature HP:0005957 biolink:PhenotypicFeature HP:0007110 biolink:PhenotypicFeature HP:0010536 biolink:PhenotypicFeature Orphanet:99812 biolink:Disease LIG4 syndrome HP:0000028 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000320 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002488 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0003220 biolink:PhenotypicFeature HP:0003683 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0004430 biolink:PhenotypicFeature HP:0005561 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature Orphanet:99868 biolink:Disease Thymic carcinoma HP:0000969 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0003473 biolink:PhenotypicFeature HP:0005345 biolink:PhenotypicFeature HP:0006597 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100521 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:99828 biolink:Disease Dengue fever HP:0000225 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003075 biolink:PhenotypicFeature HP:0006543 biolink:PhenotypicFeature Orphanet:99014 biolink:Disease X-linked Charcot-Marie-Tooth disease type 5 HP:0000365 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002385 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003712 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0040129 biolink:PhenotypicFeature Orphanet:99000 biolink:Disease Adult-onset foveomacular vitelliform dystrophy HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000551 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001139 biolink:PhenotypicFeature HP:0007677 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0007899 biolink:PhenotypicFeature Orphanet:99015 biolink:Disease Spastic paraplegia type 2 HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0005340 biolink:PhenotypicFeature Orphanet:98880 biolink:Disease Familial afibrinogenemia HP:0000225 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0400008 biolink:PhenotypicFeature Orphanet:98881 biolink:Disease Familial dysfibrinogenemia HP:0000225 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature Orphanet:99745 biolink:Disease Typhoid HP:0000421 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001695 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature Orphanet:99742 biolink:Disease Amish lethal microcephaly HP:0000185 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0001992 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0004331 biolink:PhenotypicFeature HP:0005968 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature Orphanet:99776 biolink:Disease Mosaic trisomy 9 HP:0000028 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000130 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000476 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0001195 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001651 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001706 biolink:PhenotypicFeature HP:0001746 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0001869 biolink:PhenotypicFeature HP:0002006 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0005815 biolink:PhenotypicFeature HP:0006191 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0011027 biolink:PhenotypicFeature HP:0012815 biolink:PhenotypicFeature HP:0040019 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100752 biolink:PhenotypicFeature Orphanet:99748 biolink:Disease Pontiac fever HP:0001945 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature Orphanet:99736 biolink:Disease Acetazolamide-responsive myotonia HP:0000597 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002486 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0003712 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:99735 biolink:Disease Myotonia permanens HP:0000286 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002486 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0003712 biolink:PhenotypicFeature HP:0003720 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:98292 biolink:Disease Mastocytosis HP:0000939 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002488 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0005558 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100242 biolink:PhenotypicFeature HP:0100326 biolink:PhenotypicFeature HP:0100495 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100665 biolink:PhenotypicFeature Orphanet:98293 biolink:Disease Hodgkin lymphoma HP:0000975 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001871 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:97332 biolink:Disease Kienbock disease HP:0001376 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0010886 biolink:PhenotypicFeature Orphanet:97297 biolink:Disease Bohring-Opitz syndrome HP:0001052 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000297 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001105 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001525 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002803 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0003049 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0006471 biolink:PhenotypicFeature HP:0006863 biolink:PhenotypicFeature HP:0006895 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0010733 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012537 biolink:PhenotypicFeature HP:0040082 biolink:PhenotypicFeature HP:0000016 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006070 biolink:PhenotypicFeature HP:0010291 biolink:PhenotypicFeature HP:0011003 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012453 biolink:PhenotypicFeature HP:0410030 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001734 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature HP:0002885 biolink:PhenotypicFeature Orphanet:97330 biolink:Disease Thoracic outlet syndrome HP:0000763 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002619 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature Orphanet:97229 biolink:Disease Riboflavin transporter deficiency HP:0000135 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000551 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001283 biolink:PhenotypicFeature HP:0001291 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001730 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003690 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0008002 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature Orphanet:97286 biolink:Disease Carney-Stratakis syndrome HP:0000360 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002668 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0100723 biolink:PhenotypicFeature Orphanet:98791 biolink:Disease Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0001935 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0009906 biolink:PhenotypicFeature HP:0011903 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:98375 biolink:Disease Autoimmune hemolytic anemia HP:0000980 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0001881 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012086 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:95720 biolink:Disease Thyroid hypoplasia HP:0000158 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005990 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:95719 biolink:Disease Thyroid hemiagenesis HP:0000158 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0008191 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100786 biolink:PhenotypicFeature Orphanet:95713 biolink:Disease Athyreosis HP:0000158 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008191 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100786 biolink:PhenotypicFeature Orphanet:95712 biolink:Disease Thyroid ectopia HP:0000158 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0100028 biolink:PhenotypicFeature HP:0100786 biolink:PhenotypicFeature Orphanet:96264 biolink:Disease 49,XXXXY syndrome HP:0000027 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000679 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0200021 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000744 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002139 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0100025 biolink:PhenotypicFeature HP:0100962 biolink:PhenotypicFeature Orphanet:96263 biolink:Disease 48,XXXY syndrome HP:0000023 biolink:PhenotypicFeature HP:0000027 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000679 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0006919 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature HP:0200021 biolink:PhenotypicFeature Orphanet:96169 biolink:Disease Koolen-De Vries syndrome HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000073 biolink:PhenotypicFeature HP:0000075 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002948 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature HP:0010719 biolink:PhenotypicFeature HP:0100025 biolink:PhenotypicFeature Orphanet:96167 biolink:Disease Recombinant 8 syndrome HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000050 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000190 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000464 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000766 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001869 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004378 biolink:PhenotypicFeature HP:0004415 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006443 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100729 biolink:PhenotypicFeature Orphanet:96129 biolink:Disease Distal monosomy 19p13.3 HP:0000175 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001704 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0010511 biolink:PhenotypicFeature HP:0010562 biolink:PhenotypicFeature HP:0010882 biolink:PhenotypicFeature HP:0100672 biolink:PhenotypicFeature Orphanet:96125 biolink:Disease Distal monosomy 6p HP:0000164 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000593 biolink:PhenotypicFeature HP:0000627 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0007676 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature HP:0009918 biolink:PhenotypicFeature HP:0011483 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:96061 biolink:Disease Mosaic trisomy 8 HP:0000028 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001869 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0003275 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006191 biolink:PhenotypicFeature HP:0006443 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:261295 biolink:Disease 20p12.3 microdeletion syndrome HP:0000160 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000391 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001716 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature Orphanet:261304 biolink:Disease Paternal 20q13.2q13.3 microdeletion syndrome HP:0000233 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0010781 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:261318 biolink:Disease Trisomy 20p HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000053 biolink:PhenotypicFeature HP:0000069 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002271 biolink:PhenotypicFeature HP:0002311 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100542 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature HP:0100874 biolink:PhenotypicFeature Orphanet:261330 biolink:Disease Distal 22q11.2 microdeletion syndrome HP:0000010 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000363 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001660 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001802 biolink:PhenotypicFeature HP:0001817 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004942 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0009795 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010296 biolink:PhenotypicFeature HP:0100033 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:261337 biolink:Disease Distal 22q11.2 microduplication syndrome HP:0000028 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000588 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001704 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0001836 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0009795 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature Orphanet:261344 biolink:Disease Trisomy 1q HP:0000003 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000476 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0001833 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0008386 biolink:PhenotypicFeature HP:0008676 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0010880 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:261349 biolink:Disease 2p15p16.1 microdeletion syndrome HP:0000003 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000535 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0001863 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0005274 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100625 biolink:PhenotypicFeature Orphanet:261483 biolink:Disease Xq27.3q28 duplication syndrome HP:0000028 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0100805 biolink:PhenotypicFeature Orphanet:261211 biolink:Disease 16p11.2p12.2 microdeletion syndrome HP:0000194 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0003189 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0005285 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100033 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:261236 biolink:Disease 16p13.11 microdeletion syndrome HP:0000028 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002263 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0009914 biolink:PhenotypicFeature HP:0010508 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature Orphanet:261243 biolink:Disease 16p13.11 microduplication syndrome HP:0000268 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001669 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature Orphanet:261250 biolink:Disease 16q24.3 microdeletion syndrome HP:0000348 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0007165 biolink:PhenotypicFeature HP:0030048 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0005518 biolink:PhenotypicFeature HP:0006315 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature Orphanet:261265 biolink:Disease 17q12 microdeletion syndrome HP:0000003 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000049 biolink:PhenotypicFeature HP:0000070 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012157 biolink:PhenotypicFeature HP:0100801 biolink:PhenotypicFeature Orphanet:261272 biolink:Disease 17q12 microduplication syndrome HP:0000175 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0002539 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:261279 biolink:Disease 17q23.1q23.2 microdeletion syndrome HP:0000049 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000498 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002803 biolink:PhenotypicFeature HP:0003065 biolink:PhenotypicFeature HP:0003182 biolink:PhenotypicFeature HP:0003279 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0010511 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0011803 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature Orphanet:261290 biolink:Disease Trisomy 17p HP:0000113 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0008661 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009890 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature HP:0010481 biolink:PhenotypicFeature HP:0011229 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature Orphanet:261102 biolink:Disease Distal 7q11.23 microduplication syndrome HP:0000028 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001724 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007330 biolink:PhenotypicFeature HP:0100835 biolink:PhenotypicFeature Orphanet:254509 biolink:Disease Iatrogenic botulism HP:0000016 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001278 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0006597 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0011499 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature Orphanet:261120 biolink:Disease 14q11.2 microdeletion syndrome HP:0000160 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001863 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002263 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005338 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature Orphanet:261112 biolink:Disease Monosomy 9p HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000074 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001362 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001816 biolink:PhenotypicFeature HP:0001850 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0009892 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:261190 biolink:Disease 15q14 microdeletion syndrome HP:0000023 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature Orphanet:261144 biolink:Disease FOXG1 syndrome due to 14q12 microdeletion HP:0000158 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003781 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature Orphanet:261204 biolink:Disease 16p11.2p12.2 microduplication syndrome HP:0000047 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature Orphanet:251066 biolink:Disease 8p11.2 deletion syndrome HP:0000027 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000458 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000864 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004444 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005815 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature Orphanet:251056 biolink:Disease 6q25 microdeletion syndrome HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0012639 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:251076 biolink:Disease 8p23.1 duplication syndrome HP:0000126 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000846 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0100777 biolink:PhenotypicFeature Orphanet:251071 biolink:Disease 8p23.1 microdeletion syndrome HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001669 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0004415 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0006695 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0100625 biolink:PhenotypicFeature Orphanet:254346 biolink:Disease 19p13.12 microdeletion syndrome HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0001863 biolink:PhenotypicFeature HP:0001869 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006191 biolink:PhenotypicFeature HP:0006817 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:251510 biolink:Disease 46,XY partial gonadal dysgenesis HP:0000027 biolink:PhenotypicFeature HP:0000045 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000057 biolink:PhenotypicFeature HP:0000058 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000133 biolink:PhenotypicFeature HP:0000142 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000812 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0000868 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0002215 biolink:PhenotypicFeature HP:0002225 biolink:PhenotypicFeature HP:0003251 biolink:PhenotypicFeature HP:0008214 biolink:PhenotypicFeature HP:0008230 biolink:PhenotypicFeature HP:0008232 biolink:PhenotypicFeature HP:0008726 biolink:PhenotypicFeature HP:0008730 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010464 biolink:PhenotypicFeature HP:0011969 biolink:PhenotypicFeature HP:0012244 biolink:PhenotypicFeature HP:0012870 biolink:PhenotypicFeature HP:0100779 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000150 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000030 biolink:PhenotypicFeature HP:0000149 biolink:PhenotypicFeature HP:0000846 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0008187 biolink:PhenotypicFeature HP:0008193 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature Orphanet:254504 biolink:Disease Inhalational botulism HP:0000016 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0011499 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:254351 biolink:Disease Distal 7q11.23 microdeletion syndrome HP:0000252 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002132 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007302 biolink:PhenotypicFeature Orphanet:319600 biolink:Disease Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency HP:0001945 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature Orphanet:324703 biolink:Disease ABetaL34V amyloidosis HP:0000708 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature Orphanet:319218 biolink:Disease Ebola hemorrhagic fever HP:0001945 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0020071 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002249 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0025439 biolink:PhenotypicFeature HP:0040186 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001735 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature HP:0100247 biolink:PhenotypicFeature Orphanet:324723 biolink:Disease ABeta amyloidosis, Arctic type HP:0000708 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature Orphanet:324964 biolink:Disease Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis HP:0000944 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002037 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0003765 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0005464 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100774 biolink:PhenotypicFeature HP:0100781 biolink:PhenotypicFeature HP:0100847 biolink:PhenotypicFeature Orphanet:324708 biolink:Disease ABeta amyloidosis, Iowa type HP:0000708 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature Orphanet:324713 biolink:Disease ABeta amyloidosis, Italian type HP:0000726 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature Orphanet:289916 biolink:Disease Vitamin B12-unresponsive methylmalonic acidemia type mut0 HP:0000083 biolink:PhenotypicFeature HP:0000124 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:293168 biolink:Disease Infantile-onset ascending hereditary spastic paralysis HP:0000496 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002193 biolink:PhenotypicFeature HP:0002425 biolink:PhenotypicFeature HP:0002445 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature Orphanet:319213 biolink:Disease Lujo hemorrhagic fever HP:0000282 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0025258 biolink:PhenotypicFeature HP:0025439 biolink:PhenotypicFeature HP:0031691 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002907 biolink:PhenotypicFeature HP:0003645 biolink:PhenotypicFeature HP:0007430 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0011896 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0031273 biolink:PhenotypicFeature HP:0031364 biolink:PhenotypicFeature HP:0040186 biolink:PhenotypicFeature HP:0100520 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002181 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0004787 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012384 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0025145 biolink:PhenotypicFeature HP:0030139 biolink:PhenotypicFeature HP:0030830 biolink:PhenotypicFeature HP:0031246 biolink:PhenotypicFeature HP:0032043 biolink:PhenotypicFeature HP:0032155 biolink:PhenotypicFeature HP:0100539 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature Orphanet:306498 biolink:Disease PTEN hamartoma tumor syndrome HP:0000256 biolink:PhenotypicFeature HP:0002597 biolink:PhenotypicFeature HP:0003005 biolink:PhenotypicFeature HP:0010612 biolink:PhenotypicFeature HP:0012032 biolink:PhenotypicFeature HP:0012740 biolink:PhenotypicFeature HP:0012846 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001480 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002890 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0005584 biolink:PhenotypicFeature HP:0012114 biolink:PhenotypicFeature HP:0045059 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000854 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0003003 biolink:PhenotypicFeature HP:0005987 biolink:PhenotypicFeature HP:0008046 biolink:PhenotypicFeature HP:0012480 biolink:PhenotypicFeature Orphanet:281127 biolink:Disease Acral self-healing collodion baby HP:0007514 biolink:PhenotypicFeature HP:0007559 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012098 biolink:PhenotypicFeature HP:0025524 biolink:PhenotypicFeature HP:0100679 biolink:PhenotypicFeature Orphanet:281122 biolink:Disease Self-improving collodion baby HP:0001376 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature Orphanet:281090 biolink:Disease Syndromic recessive X-linked ichthyosis HP:0000028 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002488 biolink:PhenotypicFeature HP:0002577 biolink:PhenotypicFeature HP:0004298 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0010866 biolink:PhenotypicFeature HP:0100617 biolink:PhenotypicFeature Orphanet:280794 biolink:Disease Pseudoxanthomatous diffuse cutaneous mastocytosis HP:0008066 biolink:PhenotypicFeature HP:0200151 biolink:PhenotypicFeature Orphanet:284400 biolink:Disease Small cell carcinoma of the bladder HP:0000790 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0009725 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature Orphanet:284160 biolink:Disease 8q21.11 microdeletion syndrome HP:0000028 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000647 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002263 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010489 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0004408 biolink:PhenotypicFeature Orphanet:281201 biolink:Disease Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome HP:0000982 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature Orphanet:276413 biolink:Disease 10q22.3q23.3 microdeletion syndrome HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001704 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006695 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0100444 biolink:PhenotypicFeature HP:0100783 biolink:PhenotypicFeature HP:0200008 biolink:PhenotypicFeature Orphanet:275543 biolink:Disease L1 syndrome HP:0000238 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002410 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature Orphanet:268249 biolink:Disease Mycophenolate mofetil embryopathy HP:0000086 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000625 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0001829 biolink:PhenotypicFeature HP:0002006 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0002779 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0008437 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009892 biolink:PhenotypicFeature HP:0011803 biolink:PhenotypicFeature Orphanet:264200 biolink:Disease 14q22q23 microdeletion syndrome HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000378 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000835 biolink:PhenotypicFeature HP:0000864 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0010044 biolink:PhenotypicFeature HP:0010047 biolink:PhenotypicFeature HP:0010627 biolink:PhenotypicFeature HP:0012521 biolink:PhenotypicFeature Orphanet:280785 biolink:Disease Bullous diffuse cutaneous mastocytosis HP:0000989 biolink:PhenotypicFeature HP:0001019 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0005587 biolink:PhenotypicFeature HP:0006543 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0200151 biolink:PhenotypicFeature Orphanet:279882 biolink:Disease Spasmus nutans HP:0000473 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:276630 biolink:Disease Symptomatic form of Coffin-Lowry syndrome in female carriers HP:0000232 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000674 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007302 biolink:PhenotypicFeature Orphanet:276422 biolink:Disease 10q22.3q23.3 microduplication syndrome HP:0000047 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000288 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature Orphanet:99329 biolink:Disease 48,XYYY syndrome HP:0000026 biolink:PhenotypicFeature HP:0000027 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000744 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0012210 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0003083 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0006316 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0008193 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature Orphanet:261534 biolink:Disease 49,XXXYY syndrome HP:0000026 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000744 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001776 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0003782 biolink:PhenotypicFeature HP:0008193 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0010506 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0040019 biolink:PhenotypicFeature HP:0040171 biolink:PhenotypicFeature HP:0045058 biolink:PhenotypicFeature Orphanet:99330 biolink:Disease 49,XYYYY syndrome HP:0000026 biolink:PhenotypicFeature HP:0000027 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000262 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000394 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000744 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0009237 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002761 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0003782 biolink:PhenotypicFeature HP:0003946 biolink:PhenotypicFeature HP:0004237 biolink:PhenotypicFeature HP:0008193 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0011310 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0040019 biolink:PhenotypicFeature HP:0040171 biolink:PhenotypicFeature HP:0045058 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature Orphanet:755 biolink:Disease Leydig cell hypoplasia HP:0000026 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000037 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000118 biolink:PhenotypicFeature HP:0000134 biolink:PhenotypicFeature HP:0000151 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000811 biolink:PhenotypicFeature HP:0000812 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0008187 biolink:PhenotypicFeature HP:0008193 biolink:PhenotypicFeature HP:0010790 biolink:PhenotypicFeature HP:0040171 biolink:PhenotypicFeature HP:0100783 biolink:PhenotypicFeature HP:0000030 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0012872 biolink:PhenotypicFeature Orphanet:91387 biolink:Disease Familial thoracic aortic aneurysm and aortic dissection HP:0000023 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000525 biolink:PhenotypicFeature HP:0000766 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001677 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature HP:0002138 biolink:PhenotypicFeature HP:0002140 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0002631 biolink:PhenotypicFeature HP:0002647 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002686 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0003549 biolink:PhenotypicFeature HP:0004933 biolink:PhenotypicFeature HP:0004944 biolink:PhenotypicFeature HP:0004953 biolink:PhenotypicFeature HP:0004954 biolink:PhenotypicFeature HP:0005162 biolink:PhenotypicFeature HP:0005296 biolink:PhenotypicFeature HP:0005309 biolink:PhenotypicFeature HP:0005315 biolink:PhenotypicFeature HP:0011106 biolink:PhenotypicFeature HP:0012163 biolink:PhenotypicFeature HP:0012499 biolink:PhenotypicFeature HP:0012763 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100775 biolink:PhenotypicFeature HP:0200146 biolink:PhenotypicFeature Orphanet:91349 biolink:Disease Non-functioning pituitary adenoma HP:0000026 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000053 biolink:PhenotypicFeature HP:0000134 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000140 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000830 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0000858 biolink:PhenotypicFeature HP:0000871 biolink:PhenotypicFeature HP:0000846 biolink:PhenotypicFeature HP:0000863 biolink:PhenotypicFeature HP:0000868 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001117 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002050 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002920 biolink:PhenotypicFeature HP:0003335 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0006897 biolink:PhenotypicFeature HP:0007011 biolink:PhenotypicFeature HP:0007942 biolink:PhenotypicFeature HP:0008202 biolink:PhenotypicFeature HP:0008240 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature HP:0008993 biolink:PhenotypicFeature HP:0010972 biolink:PhenotypicFeature HP:0011357 biolink:PhenotypicFeature HP:0011734 biolink:PhenotypicFeature HP:0011735 biolink:PhenotypicFeature HP:0011748 biolink:PhenotypicFeature HP:0011804 biolink:PhenotypicFeature HP:0012041 biolink:PhenotypicFeature HP:0012246 biolink:PhenotypicFeature HP:0012377 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012503 biolink:PhenotypicFeature HP:0030088 biolink:PhenotypicFeature HP:0030018 biolink:PhenotypicFeature HP:0030517 biolink:PhenotypicFeature HP:0030521 biolink:PhenotypicFeature HP:0040075 biolink:PhenotypicFeature HP:0100639 biolink:PhenotypicFeature Orphanet:261529 biolink:Disease Ring chromosome Y syndrome HP:0000026 biolink:PhenotypicFeature HP:0000027 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000033 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000051 biolink:PhenotypicFeature HP:0000061 biolink:PhenotypicFeature HP:0000133 biolink:PhenotypicFeature HP:0000150 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0003251 biolink:PhenotypicFeature HP:0008222 biolink:PhenotypicFeature HP:0008669 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0010460 biolink:PhenotypicFeature HP:0010461 biolink:PhenotypicFeature HP:0010464 biolink:PhenotypicFeature HP:0012741 biolink:PhenotypicFeature HP:0100779 biolink:PhenotypicFeature Orphanet:411590 biolink:Disease Wolfram-like syndrome HP:0000026 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000833 biolink:PhenotypicFeature HP:0000863 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0008527 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0008193 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0008850 biolink:PhenotypicFeature HP:0010935 biolink:PhenotypicFeature Orphanet:247768 biolink:Disease Müllerian aplasia and hyperandrogenism HP:0000013 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000137 biolink:PhenotypicFeature HP:0000142 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000914 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002292 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009890 biolink:PhenotypicFeature HP:0009937 biolink:PhenotypicFeature HP:0030088 biolink:PhenotypicFeature Orphanet:168563 biolink:Disease 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome HP:0000013 biolink:PhenotypicFeature HP:0000026 biolink:PhenotypicFeature HP:0000055 biolink:PhenotypicFeature HP:0000133 biolink:PhenotypicFeature HP:0000142 biolink:PhenotypicFeature HP:0000150 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0001271 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0003130 biolink:PhenotypicFeature HP:0003134 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0003434 biolink:PhenotypicFeature HP:0006984 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0008214 biolink:PhenotypicFeature HP:0008715 biolink:PhenotypicFeature HP:0008723 biolink:PhenotypicFeature HP:0010464 biolink:PhenotypicFeature HP:0040171 biolink:PhenotypicFeature HP:0045010 biolink:PhenotypicFeature Orphanet:49 biolink:Disease Penile agenesis HP:0000014 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000052 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000072 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000800 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001776 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005944 biolink:PhenotypicFeature HP:0006827 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0010480 biolink:PhenotypicFeature HP:0010945 biolink:PhenotypicFeature HP:0010958 biolink:PhenotypicFeature HP:0030261 biolink:PhenotypicFeature HP:0012583 biolink:PhenotypicFeature HP:0012584 biolink:PhenotypicFeature HP:0012620 biolink:PhenotypicFeature HP:0012732 biolink:PhenotypicFeature HP:0100590 biolink:PhenotypicFeature Orphanet:325345 biolink:Disease 46,XY ovotesticular disorder of sex development HP:0000023 biolink:PhenotypicFeature HP:0000039 biolink:PhenotypicFeature HP:0000041 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000051 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000056 biolink:PhenotypicFeature HP:0000058 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000063 biolink:PhenotypicFeature HP:0000150 biolink:PhenotypicFeature HP:0001197 biolink:PhenotypicFeature HP:0010459 biolink:PhenotypicFeature HP:0010460 biolink:PhenotypicFeature HP:0010461 biolink:PhenotypicFeature HP:0012244 biolink:PhenotypicFeature HP:0030258 biolink:PhenotypicFeature HP:0012861 biolink:PhenotypicFeature HP:0100779 biolink:PhenotypicFeature Orphanet:90796 biolink:Disease 46,XY disorder of sex development due to isolated 17,20-lyase deficiency HP:0000013 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0002215 biolink:PhenotypicFeature HP:0002225 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0008187 biolink:PhenotypicFeature HP:0008193 biolink:PhenotypicFeature HP:0008214 biolink:PhenotypicFeature HP:0008232 biolink:PhenotypicFeature HP:0008675 biolink:PhenotypicFeature HP:0011969 biolink:PhenotypicFeature HP:0012112 biolink:PhenotypicFeature HP:0030349 biolink:PhenotypicFeature HP:0040171 biolink:PhenotypicFeature HP:0100607 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000868 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008726 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0012041 biolink:PhenotypicFeature HP:0000033 biolink:PhenotypicFeature HP:0000037 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0008730 biolink:PhenotypicFeature HP:0012244 biolink:PhenotypicFeature Orphanet:1916 biolink:Disease Diethylstilbestrol syndrome HP:0000013 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000035 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000130 biolink:PhenotypicFeature HP:0000868 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0002871 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0008715 biolink:PhenotypicFeature HP:0012243 biolink:PhenotypicFeature HP:0030424 biolink:PhenotypicFeature HP:0100602 biolink:PhenotypicFeature HP:0100650 biolink:PhenotypicFeature Orphanet:325124 biolink:Disease Testicular agenesis HP:0000013 biolink:PhenotypicFeature HP:0000042 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0008716 biolink:PhenotypicFeature HP:0010469 biolink:PhenotypicFeature HP:0012870 biolink:PhenotypicFeature HP:0012872 biolink:PhenotypicFeature HP:0040171 biolink:PhenotypicFeature HP:0100779 biolink:PhenotypicFeature Orphanet:681 biolink:Disease Hypokalemic periodic paralysis HP:0008153 biolink:PhenotypicFeature HP:0012726 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0003752 biolink:PhenotypicFeature HP:0004303 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0012240 biolink:PhenotypicFeature HP:0009020 biolink:PhenotypicFeature HP:0011998 biolink:PhenotypicFeature HP:0003694 biolink:PhenotypicFeature HP:0002203 biolink:PhenotypicFeature HP:0008256 biolink:PhenotypicFeature HP:0030196 biolink:PhenotypicFeature HP:0002486 biolink:PhenotypicFeature HP:0006670 biolink:PhenotypicFeature Orphanet:759 biolink:Disease Central precocious puberty HP:0008236 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0001548 biolink:PhenotypicFeature HP:0002805 biolink:PhenotypicFeature HP:0003508 biolink:PhenotypicFeature HP:0004324 biolink:PhenotypicFeature HP:0009888 biolink:PhenotypicFeature HP:0010314 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002444 biolink:PhenotypicFeature HP:0002686 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature Orphanet:391487 biolink:Disease Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0000009 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002242 biolink:PhenotypicFeature HP:0002728 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000832 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001890 biolink:PhenotypicFeature HP:0001920 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002958 biolink:PhenotypicFeature HP:0004387 biolink:PhenotypicFeature HP:0004944 biolink:PhenotypicFeature HP:0005353 biolink:PhenotypicFeature HP:0010976 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0011473 biolink:PhenotypicFeature HP:0012163 biolink:PhenotypicFeature HP:0040160 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature HP:0100817 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001904 biolink:PhenotypicFeature HP:0001973 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002724 biolink:PhenotypicFeature HP:0003613 biolink:PhenotypicFeature HP:0004966 biolink:PhenotypicFeature HP:0011459 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012182 biolink:PhenotypicFeature HP:0030355 biolink:PhenotypicFeature HP:0005403 biolink:PhenotypicFeature Orphanet:432 biolink:Disease Normosmic congenital hypogonadotropic hypogonadism HP:0000002 biolink:PhenotypicFeature HP:0000013 biolink:PhenotypicFeature HP:0000026 biolink:PhenotypicFeature HP:0000027 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000118 biolink:PhenotypicFeature HP:0000134 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0002761 biolink:PhenotypicFeature HP:0003187 biolink:PhenotypicFeature HP:0003335 biolink:PhenotypicFeature HP:0003782 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008187 biolink:PhenotypicFeature HP:0008197 biolink:PhenotypicFeature HP:0008230 biolink:PhenotypicFeature HP:0008527 biolink:PhenotypicFeature HP:0008724 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0011961 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0030019 biolink:PhenotypicFeature HP:0040171 biolink:PhenotypicFeature Orphanet:97285 biolink:Disease Thyroid lymphoma HP:0000853 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0000475 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002781 biolink:PhenotypicFeature HP:0010307 biolink:PhenotypicFeature HP:0000836 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature Orphanet:143 biolink:Disease Parathyroid carcinoma HP:0003072 biolink:PhenotypicFeature HP:0006780 biolink:PhenotypicFeature HP:0008200 biolink:PhenotypicFeature HP:0002148 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0003165 biolink:PhenotypicFeature HP:0011766 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000131 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0008250 biolink:PhenotypicFeature HP:0010614 biolink:PhenotypicFeature HP:0012232 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000934 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0004398 biolink:PhenotypicFeature HP:0008696 biolink:PhenotypicFeature HP:0200025 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature HP:0002890 biolink:PhenotypicFeature HP:0006725 biolink:PhenotypicFeature HP:0010788 biolink:PhenotypicFeature HP:0012032 biolink:PhenotypicFeature Orphanet:1332 biolink:Disease Medullary thyroid carcinoma HP:0002865 biolink:PhenotypicFeature HP:0003528 biolink:PhenotypicFeature HP:0005994 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002666 biolink:PhenotypicFeature HP:0008200 biolink:PhenotypicFeature HP:0010622 biolink:PhenotypicFeature HP:0030146 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature Orphanet:142 biolink:Disease Anaplastic thyroid carcinoma HP:0011779 biolink:PhenotypicFeature HP:0000475 biolink:PhenotypicFeature HP:0000853 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0005994 biolink:PhenotypicFeature HP:0001605 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002781 biolink:PhenotypicFeature HP:0004894 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0010307 biolink:PhenotypicFeature HP:0010622 biolink:PhenotypicFeature HP:0011805 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0100836 biolink:PhenotypicFeature Orphanet:300385 biolink:Disease Pituitary carcinoma HP:0011763 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0003154 biolink:PhenotypicFeature HP:0006767 biolink:PhenotypicFeature HP:0008291 biolink:PhenotypicFeature HP:0100836 biolink:PhenotypicFeature HP:0007739 biolink:PhenotypicFeature HP:0007987 biolink:PhenotypicFeature HP:0012377 biolink:PhenotypicFeature HP:0012505 biolink:PhenotypicFeature HP:0040075 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0010514 biolink:PhenotypicFeature HP:0011442 biolink:PhenotypicFeature HP:0011760 biolink:PhenotypicFeature HP:0100561 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0011759 biolink:PhenotypicFeature HP:0011762 biolink:PhenotypicFeature Orphanet:1457 biolink:Disease Aorta coarctation HP:0012305 biolink:PhenotypicFeature HP:0011103 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001677 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0005301 biolink:PhenotypicFeature HP:0011682 biolink:PhenotypicFeature HP:0012304 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0010883 biolink:PhenotypicFeature HP:0005295 biolink:PhenotypicFeature HP:0011611 biolink:PhenotypicFeature Orphanet:405 biolink:Disease Familial hypocalciuric hypercalcemia HP:0003072 biolink:PhenotypicFeature HP:0003127 biolink:PhenotypicFeature HP:0003513 biolink:PhenotypicFeature HP:0003529 biolink:PhenotypicFeature HP:0002749 biolink:PhenotypicFeature HP:0008250 biolink:PhenotypicFeature HP:0008732 biolink:PhenotypicFeature HP:0000934 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0002918 biolink:PhenotypicFeature HP:0004398 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012609 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0002199 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0012032 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature Orphanet:227 biolink:Disease Diphallia HP:0000048 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0100599 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0008706 biolink:PhenotypicFeature HP:0030275 biolink:PhenotypicFeature HP:0100600 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000039 biolink:PhenotypicFeature HP:0000073 biolink:PhenotypicFeature HP:0000075 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0002836 biolink:PhenotypicFeature HP:0003172 biolink:PhenotypicFeature HP:0004712 biolink:PhenotypicFeature HP:0008669 biolink:PhenotypicFeature HP:0010475 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0011140 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0003316 biolink:PhenotypicFeature HP:0004792 biolink:PhenotypicFeature HP:0005223 biolink:PhenotypicFeature HP:0009777 biolink:PhenotypicFeature Orphanet:357154 biolink:Disease Oral submucous fibrosis HP:0000160 biolink:PhenotypicFeature HP:0000163 biolink:PhenotypicFeature HP:0000211 biolink:PhenotypicFeature HP:0000600 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0012182 biolink:PhenotypicFeature HP:0100825 biolink:PhenotypicFeature Orphanet:352723 biolink:Disease Attenuated Chédiak-Higashi syndrome HP:0000225 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001107 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002311 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0007513 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:284979 biolink:Disease Neonatal Marfan syndrome HP:0001653 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000485 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000973 biolink:PhenotypicFeature HP:0001083 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001704 biolink:PhenotypicFeature HP:0001713 biolink:PhenotypicFeature HP:0002631 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0003116 biolink:PhenotypicFeature HP:0008124 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0010511 biolink:PhenotypicFeature HP:0011003 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0100625 biolink:PhenotypicFeature HP:0100693 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0009901 biolink:PhenotypicFeature HP:0012771 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000485 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000973 biolink:PhenotypicFeature HP:0001083 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0003116 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0004970 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature HP:0008124 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0009901 biolink:PhenotypicFeature HP:0010511 biolink:PhenotypicFeature HP:0011003 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0100625 biolink:PhenotypicFeature HP:0100693 biolink:PhenotypicFeature Orphanet:284180 biolink:Disease Xp22.13p22.2 duplication syndrome HP:0000053 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000454 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007164 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0009890 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:2560 biolink:Disease Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome HP:0000044 biolink:PhenotypicFeature HP:0000182 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000544 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001776 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0007209 biolink:PhenotypicFeature HP:0008000 biolink:PhenotypicFeature HP:0045037 biolink:PhenotypicFeature Orphanet:75857 biolink:Disease 6q terminal deletion syndrome HP:0000047 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000289 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001741 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0001884 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002282 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0002538 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0006712 biolink:PhenotypicFeature HP:0007165 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0030048 biolink:PhenotypicFeature Orphanet:261476 biolink:Disease Xp21 deletion syndrome HP:0000044 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000846 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001993 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0003738 biolink:PhenotypicFeature HP:0003750 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0005949 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature HP:0040019 biolink:PhenotypicFeature Orphanet:79474 biolink:Disease Atypical Werner syndrome HP:0000035 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000546 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000831 biolink:PhenotypicFeature HP:0000905 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0000934 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0001015 biolink:PhenotypicFeature HP:0009771 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001677 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001808 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002211 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0002669 biolink:PhenotypicFeature HP:0002858 biolink:PhenotypicFeature HP:0003074 biolink:PhenotypicFeature HP:0003076 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0003738 biolink:PhenotypicFeature HP:0003777 biolink:PhenotypicFeature HP:0004054 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0004361 biolink:PhenotypicFeature HP:0004380 biolink:PhenotypicFeature HP:0004414 biolink:PhenotypicFeature HP:0004950 biolink:PhenotypicFeature HP:0005109 biolink:PhenotypicFeature HP:0005177 biolink:PhenotypicFeature HP:0005328 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007509 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0007618 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0008283 biolink:PhenotypicFeature HP:0008419 biolink:PhenotypicFeature HP:0009064 biolink:PhenotypicFeature HP:0009726 biolink:PhenotypicFeature HP:0010721 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0011362 biolink:PhenotypicFeature HP:0040019 biolink:PhenotypicFeature HP:0100013 biolink:PhenotypicFeature HP:0100031 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100615 biolink:PhenotypicFeature HP:0100649 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature HP:0100679 biolink:PhenotypicFeature HP:0100833 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:96092 biolink:Disease 8p inverted duplication/deletion syndrome HP:0000028 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001651 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002292 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0005656 biolink:PhenotypicFeature HP:0005781 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature HP:0006292 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010487 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011466 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature Orphanet:199310 biolink:Disease Tetragametic chimerism HP:0000028 biolink:PhenotypicFeature HP:0000035 biolink:PhenotypicFeature HP:0000045 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000051 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000057 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000137 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0010459 biolink:PhenotypicFeature HP:0008723 biolink:PhenotypicFeature HP:0010970 biolink:PhenotypicFeature HP:0010987 biolink:PhenotypicFeature HP:0012145 biolink:PhenotypicFeature HP:0012861 biolink:PhenotypicFeature Orphanet:280651 biolink:Disease Acrodysostosis with multiple hormone resistance HP:0000852 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000851 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002905 biolink:PhenotypicFeature HP:0003165 biolink:PhenotypicFeature HP:0003528 biolink:PhenotypicFeature HP:0004646 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005305 biolink:PhenotypicFeature HP:0005453 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0008450 biolink:PhenotypicFeature HP:0008479 biolink:PhenotypicFeature HP:0008497 biolink:PhenotypicFeature HP:0009803 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature HP:0010743 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0003502 biolink:PhenotypicFeature HP:0000635 biolink:PhenotypicFeature HP:0002286 biolink:PhenotypicFeature HP:0002297 biolink:PhenotypicFeature HP:0003456 biolink:PhenotypicFeature Orphanet:250999 biolink:Disease 1q41q42 microdeletion syndrome HP:0000028 biolink:PhenotypicFeature HP:0000078 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000525 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011447 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature Orphanet:293967 biolink:Disease Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000028 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000831 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0001935 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0008527 biolink:PhenotypicFeature HP:0009185 biolink:PhenotypicFeature HP:0003799 biolink:PhenotypicFeature HP:0006353 biolink:PhenotypicFeature HP:0007266 biolink:PhenotypicFeature HP:0007642 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0008850 biolink:PhenotypicFeature HP:0011246 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0011408 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012795 biolink:PhenotypicFeature HP:0100689 biolink:PhenotypicFeature Orphanet:1646 biolink:Disease Partial chromosome Y deletion HP:0000028 biolink:PhenotypicFeature HP:0000798 biolink:PhenotypicFeature HP:0003251 biolink:PhenotypicFeature HP:0008669 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0011961 biolink:PhenotypicFeature Orphanet:314389 biolink:Disease Xq12-q13.3 duplication syndrome HP:0000028 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0010554 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003282 biolink:PhenotypicFeature HP:0003700 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0001054 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0009908 biolink:PhenotypicFeature HP:0011265 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0012751 biolink:PhenotypicFeature HP:0030353 biolink:PhenotypicFeature HP:0100739 biolink:PhenotypicFeature Orphanet:168558 biolink:Disease 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency HP:0000028 biolink:PhenotypicFeature HP:0000033 biolink:PhenotypicFeature HP:0000037 biolink:PhenotypicFeature HP:0000057 biolink:PhenotypicFeature HP:0000127 biolink:PhenotypicFeature HP:0000142 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000151 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000835 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0000848 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001197 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001941 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001998 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0002924 biolink:PhenotypicFeature HP:0003107 biolink:PhenotypicFeature HP:0003154 biolink:PhenotypicFeature HP:0012605 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0007574 biolink:PhenotypicFeature HP:0008073 biolink:PhenotypicFeature HP:0008163 biolink:PhenotypicFeature HP:0008187 biolink:PhenotypicFeature HP:0008232 biolink:PhenotypicFeature HP:0008730 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0010789 biolink:PhenotypicFeature HP:0011106 biolink:PhenotypicFeature HP:0011749 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0011969 biolink:PhenotypicFeature HP:0012244 biolink:PhenotypicFeature HP:0012245 biolink:PhenotypicFeature HP:0012598 biolink:PhenotypicFeature HP:0012854 biolink:PhenotypicFeature HP:0030349 biolink:PhenotypicFeature HP:0030369 biolink:PhenotypicFeature HP:0100779 biolink:PhenotypicFeature Orphanet:289548 biolink:Disease Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency HP:0000028 biolink:PhenotypicFeature HP:0000033 biolink:PhenotypicFeature HP:0000037 biolink:PhenotypicFeature HP:0000057 biolink:PhenotypicFeature HP:0000127 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000151 biolink:PhenotypicFeature HP:0000142 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000835 biolink:PhenotypicFeature HP:0000848 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001197 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001941 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001998 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0002924 biolink:PhenotypicFeature HP:0003107 biolink:PhenotypicFeature HP:0003154 biolink:PhenotypicFeature HP:0012605 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0007574 biolink:PhenotypicFeature HP:0008073 biolink:PhenotypicFeature HP:0008163 biolink:PhenotypicFeature HP:0008187 biolink:PhenotypicFeature HP:0008232 biolink:PhenotypicFeature HP:0008730 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0010512 biolink:PhenotypicFeature HP:0010789 biolink:PhenotypicFeature HP:0011106 biolink:PhenotypicFeature HP:0011749 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0011969 biolink:PhenotypicFeature HP:0012244 biolink:PhenotypicFeature HP:0012245 biolink:PhenotypicFeature HP:0012598 biolink:PhenotypicFeature HP:0012854 biolink:PhenotypicFeature HP:0030349 biolink:PhenotypicFeature HP:0030369 biolink:PhenotypicFeature HP:0100779 biolink:PhenotypicFeature Orphanet:90791 biolink:Disease Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency HP:0008258 biolink:PhenotypicFeature HP:0000033 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000061 biolink:PhenotypicFeature HP:0000127 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000848 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001998 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0002924 biolink:PhenotypicFeature HP:0008163 biolink:PhenotypicFeature HP:0008665 biolink:PhenotypicFeature HP:0011749 biolink:PhenotypicFeature HP:0012041 biolink:PhenotypicFeature HP:0025380 biolink:PhenotypicFeature HP:0030088 biolink:PhenotypicFeature HP:0031213 biolink:PhenotypicFeature HP:0040171 biolink:PhenotypicFeature HP:0500022 biolink:PhenotypicFeature HP:0000027 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000037 biolink:PhenotypicFeature HP:0000808 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0008730 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0012412 biolink:PhenotypicFeature HP:0012768 biolink:PhenotypicFeature HP:0012881 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature Orphanet:168569 biolink:Disease H syndrome HP:0000027 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000105 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001084 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0001935 biolink:PhenotypicFeature HP:0001954 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002257 biolink:PhenotypicFeature HP:0002619 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0003765 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0007380 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0011025 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0012724 biolink:PhenotypicFeature HP:0030053 biolink:PhenotypicFeature HP:0100324 biolink:PhenotypicFeature HP:0100727 biolink:PhenotypicFeature HP:0100776 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:399805 biolink:Disease Male infertility with azoospermia or oligozoospermia due to single gene mutation HP:0000027 biolink:PhenotypicFeature HP:0000118 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0008669 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0011961 biolink:PhenotypicFeature HP:0011962 biolink:PhenotypicFeature Orphanet:98798 biolink:Disease Isochromosomy Yq HP:0000027 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0003248 biolink:PhenotypicFeature HP:0003251 biolink:PhenotypicFeature HP:0008193 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0012871 biolink:PhenotypicFeature Orphanet:98797 biolink:Disease Isochromosomy Yp HP:0000027 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0003251 biolink:PhenotypicFeature HP:0008193 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature Orphanet:261519 biolink:Disease Maternal uniparental disomy of chromosome X HP:0000027 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000914 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0003248 biolink:PhenotypicFeature HP:0003550 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008193 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:8 biolink:Disease 47,XYY syndrome HP:0000027 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000053 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000798 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002195 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0003251 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007033 biolink:PhenotypicFeature HP:0007642 biolink:PhenotypicFeature HP:0030088 biolink:PhenotypicFeature HP:0012871 biolink:PhenotypicFeature HP:0040019 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature Orphanet:1772 biolink:Disease 45,X/46,XY mixed gonadal dysgenesis HP:0000027 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000033 biolink:PhenotypicFeature HP:0000039 biolink:PhenotypicFeature HP:0000041 biolink:PhenotypicFeature HP:0000045 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000061 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000150 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0000808 biolink:PhenotypicFeature HP:0000812 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0001087 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0002442 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0010743 biolink:PhenotypicFeature HP:0003251 biolink:PhenotypicFeature HP:0010044 biolink:PhenotypicFeature HP:0008689 biolink:PhenotypicFeature HP:0008968 biolink:PhenotypicFeature HP:0010464 biolink:PhenotypicFeature HP:0030079 biolink:PhenotypicFeature HP:0012741 biolink:PhenotypicFeature HP:0012861 biolink:PhenotypicFeature HP:0012887 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0040171 biolink:PhenotypicFeature HP:0100779 biolink:PhenotypicFeature Orphanet:163976 biolink:Disease X-linked intellectual disability, Van Esch type HP:0000026 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008187 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0004440 biolink:PhenotypicFeature HP:0012646 biolink:PhenotypicFeature HP:0040171 biolink:PhenotypicFeature Orphanet:163971 biolink:Disease X-linked intellectual disability, Cilliers type HP:0000026 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0008187 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0004440 biolink:PhenotypicFeature HP:0011999 biolink:PhenotypicFeature HP:0040171 biolink:PhenotypicFeature HP:0100962 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:91347 biolink:Disease TSH-secreting pituitary adenoma HP:0000026 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000134 biolink:PhenotypicFeature HP:0000140 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000836 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0000868 biolink:PhenotypicFeature HP:0000853 biolink:PhenotypicFeature HP:0000858 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001117 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0002920 biolink:PhenotypicFeature HP:0002925 biolink:PhenotypicFeature HP:0003335 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0004308 biolink:PhenotypicFeature HP:0005115 biolink:PhenotypicFeature HP:0006897 biolink:PhenotypicFeature HP:0007011 biolink:PhenotypicFeature HP:0007942 biolink:PhenotypicFeature HP:0008153 biolink:PhenotypicFeature HP:0008247 biolink:PhenotypicFeature HP:0008240 biolink:PhenotypicFeature HP:0011357 biolink:PhenotypicFeature HP:0011734 biolink:PhenotypicFeature HP:0011735 biolink:PhenotypicFeature HP:0011748 biolink:PhenotypicFeature HP:0011782 biolink:PhenotypicFeature HP:0012041 biolink:PhenotypicFeature HP:0012246 biolink:PhenotypicFeature HP:0012377 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012503 biolink:PhenotypicFeature HP:0012505 biolink:PhenotypicFeature HP:0030018 biolink:PhenotypicFeature HP:0030517 biolink:PhenotypicFeature HP:0030521 biolink:PhenotypicFeature HP:0030588 biolink:PhenotypicFeature HP:0100639 biolink:PhenotypicFeature Orphanet:2965 biolink:Disease Prolactinoma HP:0000026 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000134 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000140 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000830 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0000858 biolink:PhenotypicFeature HP:0000868 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001117 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002920 biolink:PhenotypicFeature HP:0003335 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0006897 biolink:PhenotypicFeature HP:0007011 biolink:PhenotypicFeature HP:0007942 biolink:PhenotypicFeature HP:0008240 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature HP:0011357 biolink:PhenotypicFeature HP:0011734 biolink:PhenotypicFeature HP:0011735 biolink:PhenotypicFeature HP:0011748 biolink:PhenotypicFeature HP:0012041 biolink:PhenotypicFeature HP:0012246 biolink:PhenotypicFeature HP:0012377 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012503 biolink:PhenotypicFeature HP:0030018 biolink:PhenotypicFeature HP:0030016 biolink:PhenotypicFeature HP:0030517 biolink:PhenotypicFeature HP:0030521 biolink:PhenotypicFeature HP:0100639 biolink:PhenotypicFeature HP:0100829 biolink:PhenotypicFeature Orphanet:166016 biolink:Disease Multiple epiphyseal dysplasia, Lowry type HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000766 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002656 biolink:PhenotypicFeature HP:0002663 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003038 biolink:PhenotypicFeature HP:0003071 biolink:PhenotypicFeature HP:0003083 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0010585 biolink:PhenotypicFeature HP:0100168 biolink:PhenotypicFeature HP:0410005 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006471 biolink:PhenotypicFeature Orphanet:166100 biolink:Disease Autosomal dominant otospondylomegaepiphyseal dysplasia HP:0000162 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0005916 biolink:PhenotypicFeature HP:0100777 biolink:PhenotypicFeature Orphanet:166024 biolink:Disease Multiple epiphyseal dysplasia, Al-Gazali type HP:0000207 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002419 biolink:PhenotypicFeature HP:0002654 biolink:PhenotypicFeature HP:0002663 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003037 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0031092 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0012725 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature Orphanet:166272 biolink:Disease Odontochondrodysplasia HP:0000278 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000703 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003278 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature Orphanet:166277 biolink:Disease Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia HP:0000268 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000629 biolink:PhenotypicFeature HP:0000703 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001863 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0002756 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009824 biolink:PhenotypicFeature HP:0011120 biolink:PhenotypicFeature Orphanet:168593 biolink:Disease Sudden infant death-dysgenesis of the testes syndrome HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001695 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature Orphanet:168555 biolink:Disease Spondylometaphyseal dysplasia, A4 type HP:0000926 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0002657 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0006603 biolink:PhenotypicFeature Orphanet:168811 biolink:Disease Malignant peritoneal mesothelioma HP:0001541 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0002595 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature Orphanet:168624 biolink:Disease Familial scaphocephaly syndrome, McGillivray type HP:0000218 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:168829 biolink:Disease Primary peritoneal carcinoma HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature Orphanet:168816 biolink:Disease Peritoneal cystic mesothelioma HP:0000132 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0030016 biolink:PhenotypicFeature HP:0100608 biolink:PhenotypicFeature Orphanet:158029 biolink:Disease Sea-blue histiocytosis HP:0000488 biolink:PhenotypicFeature HP:0000498 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001982 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature Orphanet:158676 biolink:Disease Localized dystrophic epidermolysis bullosa, nails only HP:0001805 biolink:PhenotypicFeature HP:0001808 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0001810 biolink:PhenotypicFeature HP:0008391 biolink:PhenotypicFeature HP:0008401 biolink:PhenotypicFeature HP:0040036 biolink:PhenotypicFeature HP:0001802 biolink:PhenotypicFeature HP:0001030 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0011121 biolink:PhenotypicFeature Orphanet:158687 biolink:Disease Lethal acantholytic erosive disorder HP:0000561 biolink:PhenotypicFeature HP:0000695 biolink:PhenotypicFeature HP:0001030 biolink:PhenotypicFeature HP:0001802 biolink:PhenotypicFeature HP:0001817 biolink:PhenotypicFeature HP:0002223 biolink:PhenotypicFeature HP:0002298 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0005597 biolink:PhenotypicFeature HP:0031274 biolink:PhenotypicFeature HP:0031538 biolink:PhenotypicFeature HP:0032449 biolink:PhenotypicFeature HP:0100792 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001233 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001836 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0006097 biolink:PhenotypicFeature HP:0006670 biolink:PhenotypicFeature HP:0010705 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature HP:0040111 biolink:PhenotypicFeature Orphanet:163596 biolink:Disease Hb Bart's hydrops fetalis HP:0000238 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0011902 biolink:PhenotypicFeature HP:0100602 biolink:PhenotypicFeature Orphanet:163634 biolink:Disease Maffucci syndrome HP:0000853 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature HP:0002897 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0005701 biolink:PhenotypicFeature HP:0006765 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007461 biolink:PhenotypicFeature HP:0009592 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0100242 biolink:PhenotypicFeature HP:0100615 biolink:PhenotypicFeature HP:0100641 biolink:PhenotypicFeature HP:0100733 biolink:PhenotypicFeature HP:0100777 biolink:PhenotypicFeature Orphanet:163690 biolink:Disease Hypotonia-cystinuria syndrome HP:0000268 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0003131 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:163693 biolink:Disease 2p21 microdeletion syndrome HP:0000135 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003131 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0200125 biolink:PhenotypicFeature Orphanet:163703 biolink:Disease Febrile infection-related epilepsy syndrome HP:0000246 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001699 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature Orphanet:163746 biolink:Disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease HP:0000135 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000633 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001100 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002595 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0004388 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature Orphanet:163937 biolink:Disease X-linked intellectual disability, Najm type HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature Orphanet:163966 biolink:Disease X-linked dominant chondrodysplasia, Chassaing-Lacombe type HP:0000154 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000883 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002866 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005871 biolink:PhenotypicFeature HP:0006028 biolink:PhenotypicFeature HP:0008364 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature Orphanet:181393 biolink:Disease Growth hormone insensitivity syndrome HP:0000135 biolink:PhenotypicFeature HP:0000153 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature Orphanet:178509 biolink:Disease Perry syndrome HP:0000716 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0000751 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0007110 biolink:PhenotypicFeature Orphanet:178487 biolink:Disease Adult intestinal botulism HP:0000508 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0006597 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature Orphanet:178481 biolink:Disease Intestinal botulism HP:0000217 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0011499 biolink:PhenotypicFeature Orphanet:183713 biolink:Disease Bacterial susceptibility due to TLR signaling pathway deficiency HP:0001945 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0005406 biolink:PhenotypicFeature Orphanet:183707 biolink:Disease Neutrophil immunodeficiency syndrome HP:0001058 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0011990 biolink:PhenotypicFeature Orphanet:199318 biolink:Disease 15q13.3 microdeletion syndrome HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005274 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007302 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature Orphanet:199251 biolink:Disease Ledderhose disease HP:0001482 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0100679 biolink:PhenotypicFeature Orphanet:189439 biolink:Disease Primary pigmented nodular adrenocortical disease HP:0001580 biolink:PhenotypicFeature HP:0001050 biolink:PhenotypicFeature HP:0002920 biolink:PhenotypicFeature HP:0500011 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000858 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001065 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001952 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0003118 biolink:PhenotypicFeature HP:0003466 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0007126 biolink:PhenotypicFeature HP:0007552 biolink:PhenotypicFeature HP:0008221 biolink:PhenotypicFeature HP:0012030 biolink:PhenotypicFeature HP:0012743 biolink:PhenotypicFeature HP:0025383 biolink:PhenotypicFeature HP:0031845 biolink:PhenotypicFeature HP:0000725 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0004324 biolink:PhenotypicFeature HP:0005585 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0010619 biolink:PhenotypicFeature HP:0010788 biolink:PhenotypicFeature HP:0011672 biolink:PhenotypicFeature HP:0030428 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100754 biolink:PhenotypicFeature Orphanet:217346 biolink:Disease 19q13.11 microdeletion syndrome HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001057 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001863 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0005338 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006315 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0010761 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0200102 biolink:PhenotypicFeature Orphanet:217340 biolink:Disease 17q21.31 microduplication syndrome HP:0000164 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature Orphanet:210122 biolink:Disease Congenital alveolar capillary dysplasia HP:0000126 biolink:PhenotypicFeature HP:0001195 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001734 biolink:PhenotypicFeature HP:0001746 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0002580 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0006695 biolink:PhenotypicFeature HP:0010882 biolink:PhenotypicFeature HP:0011467 biolink:PhenotypicFeature HP:0100867 biolink:PhenotypicFeature Orphanet:206583 biolink:Disease Adult polyglucosan body disease HP:0000011 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:169090 biolink:Disease Combined immunodeficiency due to CRAC channel dysfunction HP:0000389 biolink:PhenotypicFeature HP:0000705 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002841 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0004429 biolink:PhenotypicFeature HP:0007676 biolink:PhenotypicFeature HP:0011084 biolink:PhenotypicFeature HP:0011274 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0000970 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature Orphanet:169095 biolink:Disease Severe combined immunodeficiency due to FOXN1 deficiency HP:0001803 biolink:PhenotypicFeature HP:0001807 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0005403 biolink:PhenotypicFeature HP:0005597 biolink:PhenotypicFeature Orphanet:168984 biolink:Disease CLAPO syndrome HP:0005306 biolink:PhenotypicFeature HP:0031487 biolink:PhenotypicFeature HP:0001052 biolink:PhenotypicFeature HP:0001528 biolink:PhenotypicFeature HP:0001548 biolink:PhenotypicFeature HP:0100764 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002619 biolink:PhenotypicFeature HP:0004099 biolink:PhenotypicFeature HP:0012721 biolink:PhenotypicFeature HP:0100553 biolink:PhenotypicFeature HP:0100554 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0003005 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:169079 biolink:Disease Cernunnos-XLF deficiency HP:0000252 biolink:PhenotypicFeature HP:0000320 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004429 biolink:PhenotypicFeature HP:0005403 biolink:PhenotypicFeature HP:0010976 biolink:PhenotypicFeature Orphanet:171829 biolink:Disease 6q16 microdeletion syndrome HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0007874 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001833 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002370 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0031703 biolink:PhenotypicFeature Orphanet:169105 biolink:Disease Good syndrome HP:0000010 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001881 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0003473 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0010515 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100522 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature Orphanet:171719 biolink:Disease Cutis laxa-Marfanoid syndrome HP:0000776 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature Orphanet:178303 biolink:Disease 8q22.1 microdeletion syndrome HP:0000028 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000535 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000653 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0005288 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0008577 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature HP:0010781 biolink:PhenotypicFeature HP:0100024 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100679 biolink:PhenotypicFeature Orphanet:171839 biolink:Disease Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000262 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002000 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007375 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature Orphanet:178029 biolink:Disease Central diabetes insipidus HP:0000017 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature Orphanet:178475 biolink:Disease Wound botulism HP:0000016 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001695 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0006597 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0011499 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature Orphanet:178478 biolink:Disease Infant botulism HP:0000217 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000600 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0001695 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0011499 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:178377 biolink:Disease Osteosclerosis-developmental delay-craniosynostosis syndrome HP:0000248 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002684 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0012802 biolink:PhenotypicFeature Orphanet:228312 biolink:Disease Autoimmune hemolytic anemia, cold type HP:0000980 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0001881 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:228384 biolink:Disease 5q14.3 microdeletion syndrome HP:0000194 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002335 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0006913 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012639 biolink:PhenotypicFeature Orphanet:228371 biolink:Disease Foodborne botulism HP:0000016 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0006543 biolink:PhenotypicFeature HP:0006597 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0011499 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature Orphanet:228169 biolink:Disease Autosomal dominant striatal neurodegeneration HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:228116 biolink:Disease Hughes-Stovin syndrome HP:0001945 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0004937 biolink:PhenotypicFeature HP:0006543 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100545 biolink:PhenotypicFeature HP:0100576 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:228415 biolink:Disease 5q35 microduplication syndrome HP:0000252 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:228410 biolink:Disease Polyvalvular heart disease syndrome HP:0000218 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001699 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature Orphanet:230800 biolink:Disease Toxin-mediated infectious botulism HP:0000508 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0006597 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0011499 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature Orphanet:229717 biolink:Disease Isolated agammaglobulinemia HP:0000246 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001864 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001874 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004332 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100533 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0100763 biolink:PhenotypicFeature HP:0100765 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0100838 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:228396 biolink:Disease Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome HP:0000308 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000561 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0001092 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature Orphanet:228390 biolink:Disease Frontonasal dysplasia-alopecia-genital anomalies syndrome HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000289 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000698 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001362 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002335 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0004440 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0011803 biolink:PhenotypicFeature Orphanet:228402 biolink:Disease 2q23.1 microdeletion syndrome HP:0000028 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000749 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001572 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:228399 biolink:Disease 8q12 microduplication syndrome HP:0000076 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001291 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0009921 biolink:PhenotypicFeature Orphanet:220393 biolink:Disease Diffuse cutaneous systemic sclerosis HP:0000083 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0030016 biolink:PhenotypicFeature HP:0030142 biolink:PhenotypicFeature HP:0100520 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100735 biolink:PhenotypicFeature HP:0100958 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:220402 biolink:Disease Limited cutaneous systemic sclerosis HP:0000951 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0008366 biolink:PhenotypicFeature HP:0009473 biolink:PhenotypicFeature HP:0100579 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100958 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:220493 biolink:Disease Joubert syndrome with ocular defect HP:0000175 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000480 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0000864 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001651 biolink:PhenotypicFeature HP:0001829 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002419 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature Orphanet:217377 biolink:Disease Microduplication Xp11.22p11.23 syndrome HP:0000717 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0012557 biolink:PhenotypicFeature Orphanet:217385 biolink:Disease 17p13.3 microduplication syndrome HP:0000023 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature Orphanet:217390 biolink:Disease Combined immunodeficiency due to DOCK8 deficiency HP:0000389 biolink:PhenotypicFeature HP:0001047 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature HP:0004429 biolink:PhenotypicFeature HP:0005364 biolink:PhenotypicFeature HP:0005401 biolink:PhenotypicFeature HP:0005403 biolink:PhenotypicFeature HP:0005406 biolink:PhenotypicFeature HP:0010976 biolink:PhenotypicFeature HP:0011108 biolink:PhenotypicFeature HP:0012203 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0200043 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0006763 biolink:PhenotypicFeature HP:0030417 biolink:PhenotypicFeature Orphanet:220295 biolink:Disease Xeroderma pigmentosum-Cockayne syndrome complex HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001029 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002634 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0004337 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0007587 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0006739 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature Orphanet:220497 biolink:Disease Joubert syndrome with renal defect HP:0000083 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0000864 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002419 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature Orphanet:226292 biolink:Disease Permanent congenital hypothyroidism HP:0000158 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000853 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001615 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002445 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008188 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature Orphanet:247604 biolink:Disease Juvenile primary lateral sclerosis HP:0000014 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002127 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002193 biolink:PhenotypicFeature HP:0002371 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature Orphanet:238769 biolink:Disease 1q44 microdeletion syndrome HP:0000076 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002263 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0007766 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:238750 biolink:Disease 4q21 microdeletion syndrome HP:0000164 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:238606 biolink:Disease Primary orthostatic tremor HP:0001337 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:238578 biolink:Disease Familial clubfoot due to 17q23.1q23.2 microduplication HP:0001385 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:238468 biolink:Disease Hypohidrotic ectodermal dysplasia HP:0000100 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002217 biolink:PhenotypicFeature HP:0004298 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0009886 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0011358 biolink:PhenotypicFeature HP:0011362 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100533 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100783 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:238446 biolink:Disease 15q11q13 microduplication syndrome HP:0000256 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002186 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature Orphanet:231736 biolink:Disease Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome HP:0000482 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0007968 biolink:PhenotypicFeature HP:0011502 biolink:PhenotypicFeature Orphanet:251046 biolink:Disease 6p22 microdeletion syndrome HP:0000078 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0012639 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:251038 biolink:Disease 3q29 microduplication syndrome HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000526 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000647 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001836 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature Orphanet:251019 biolink:Disease 2q32q33 microdeletion syndrome HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001863 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002546 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100024 biolink:PhenotypicFeature Orphanet:251014 biolink:Disease 2q31.1 microdeletion syndrome HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000588 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000864 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0005916 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0100257 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:250994 biolink:Disease 1q21.1 microduplication syndrome HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature Orphanet:250989 biolink:Disease 1q21.1 microdeletion syndrome HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001829 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0010296 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0011611 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature Orphanet:250984 biolink:Disease Autosomal recessive Stickler syndrome HP:0000175 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000655 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0002656 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003301 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature Orphanet:250923 biolink:Disease Isolated aniridia HP:0000501 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000526 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000659 biolink:PhenotypicFeature HP:0008059 biolink:PhenotypicFeature Orphanet:231226 biolink:Disease Dominant beta-thalassemia HP:0011904 biolink:PhenotypicFeature HP:0011905 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001971 biolink:PhenotypicFeature HP:0001978 biolink:PhenotypicFeature HP:0004840 biolink:PhenotypicFeature HP:0011273 biolink:PhenotypicFeature HP:0025066 biolink:PhenotypicFeature HP:0025547 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000829 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001954 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0009004 biolink:PhenotypicFeature HP:0011031 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0031035 biolink:PhenotypicFeature HP:0040075 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0200123 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000846 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001722 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0010620 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0430028 biolink:PhenotypicFeature Orphanet:231183 biolink:Disease Usher syndrome type 3 HP:0000375 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000575 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001756 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature HP:0012377 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature Orphanet:231214 biolink:Disease Beta-thalassemia major HP:0000980 biolink:PhenotypicFeature HP:0004823 biolink:PhenotypicFeature HP:0004840 biolink:PhenotypicFeature HP:0010972 biolink:PhenotypicFeature HP:0011904 biolink:PhenotypicFeature HP:0011905 biolink:PhenotypicFeature HP:0025066 biolink:PhenotypicFeature HP:0025547 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001971 biolink:PhenotypicFeature HP:0001978 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0009004 biolink:PhenotypicFeature HP:0011031 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000829 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001722 biolink:PhenotypicFeature HP:0001954 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0010620 biolink:PhenotypicFeature HP:0031035 biolink:PhenotypicFeature HP:0040075 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0430028 biolink:PhenotypicFeature HP:0000846 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature Orphanet:231169 biolink:Disease Usher syndrome type 1 HP:0000375 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000575 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001756 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature HP:0012157 biolink:PhenotypicFeature HP:0012377 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature Orphanet:231178 biolink:Disease Usher syndrome type 2 HP:0000359 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000575 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0011073 biolink:PhenotypicFeature HP:0012157 biolink:PhenotypicFeature HP:0012377 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature Orphanet:230839 biolink:Disease Classical-like Ehlers-Danlos syndrome type 1 HP:0000763 biolink:PhenotypicFeature HP:0000835 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0004416 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:231154 biolink:Disease Combined immunodeficiency due to partial RAG1 deficiency HP:0001744 biolink:PhenotypicFeature HP:0001890 biolink:PhenotypicFeature HP:0001904 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0004430 biolink:PhenotypicFeature HP:0005403 biolink:PhenotypicFeature HP:0006515 biolink:PhenotypicFeature HP:0010976 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:231720 biolink:Disease Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome HP:0000407 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0003423 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008213 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature HP:0010627 biolink:PhenotypicFeature HP:0011748 biolink:PhenotypicFeature HP:0012287 biolink:PhenotypicFeature Orphanet:231393 biolink:Disease Beta-thalassemia-X-linked thrombocytopenia syndrome HP:0001744 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0011869 biolink:PhenotypicFeature HP:0011902 biolink:PhenotypicFeature Orphanet:231401 biolink:Disease Alpha-thalassemia-myelodysplastic syndrome HP:0000978 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001935 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002488 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0011903 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:231242 biolink:Disease Hemoglobin C-beta-thalassemia syndrome HP:0001744 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001935 biolink:PhenotypicFeature HP:0011902 biolink:PhenotypicFeature Orphanet:231249 biolink:Disease Hemoglobin E-beta-thalassemia syndrome HP:0001903 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0003281 biolink:PhenotypicFeature HP:0011902 biolink:PhenotypicFeature Orphanet:231237 biolink:Disease Delta-beta-thalassemia HP:0001903 biolink:PhenotypicFeature HP:0001935 biolink:PhenotypicFeature HP:0011902 biolink:PhenotypicFeature Orphanet:97341 biolink:Disease Persistent placoid maculopathy HP:0007663 biolink:PhenotypicFeature HP:0011506 biolink:PhenotypicFeature HP:0001103 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0007750 biolink:PhenotypicFeature HP:0007814 biolink:PhenotypicFeature HP:0010822 biolink:PhenotypicFeature HP:0012508 biolink:PhenotypicFeature Orphanet:99688 biolink:Disease Dermotrichic syndrome HP:0003468 biolink:PhenotypicFeature HP:0003508 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0030055 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature Orphanet:99852 biolink:Disease Ravine syndrome HP:0001508 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002448 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0000932 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0007366 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0006958 biolink:PhenotypicFeature HP:0001600 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature Orphanet:99819 biolink:Disease Familial gestational hyperthyroidism HP:0000836 biolink:PhenotypicFeature HP:0011790 biolink:PhenotypicFeature HP:0012188 biolink:PhenotypicFeature HP:0000853 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0008249 biolink:PhenotypicFeature HP:0011784 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature Orphanet:457059 biolink:Disease Pseudohypoparathyroidism with Albright hereditary osteodystrophy HP:0000311 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000836 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002905 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0011362 biolink:PhenotypicFeature HP:0100530 biolink:PhenotypicFeature HP:0000035 biolink:PhenotypicFeature HP:0000036 biolink:PhenotypicFeature HP:0000140 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000853 biolink:PhenotypicFeature HP:0000858 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002684 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0010788 biolink:PhenotypicFeature HP:0100013 biolink:PhenotypicFeature HP:0100031 biolink:PhenotypicFeature HP:0100242 biolink:PhenotypicFeature Orphanet:465508 biolink:Disease Symptomatic form of hemochromatosis type 1 HP:0000953 biolink:PhenotypicFeature HP:0003281 biolink:PhenotypicFeature HP:0011031 biolink:PhenotypicFeature HP:0012463 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003040 biolink:PhenotypicFeature HP:0003074 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0007574 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000029 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0005198 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011911 biolink:PhenotypicFeature HP:0030848 biolink:PhenotypicFeature HP:0040171 biolink:PhenotypicFeature HP:0100626 biolink:PhenotypicFeature HP:0100639 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0030153 biolink:PhenotypicFeature Orphanet:209943 biolink:Disease IRVAN syndrome HP:0007663 biolink:PhenotypicFeature HP:0007906 biolink:PhenotypicFeature HP:0100832 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001147 biolink:PhenotypicFeature HP:0007917 biolink:PhenotypicFeature HP:0040049 biolink:PhenotypicFeature Orphanet:97240 biolink:Disease Zebra body myopathy HP:0000467 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003327 biolink:PhenotypicFeature HP:0003391 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0003555 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0003715 biolink:PhenotypicFeature HP:0003736 biolink:PhenotypicFeature HP:0003798 biolink:PhenotypicFeature HP:0003805 biolink:PhenotypicFeature HP:0006785 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0012899 biolink:PhenotypicFeature HP:0003713 biolink:PhenotypicFeature Orphanet:79099 biolink:Disease Interstitial granulomatous dermatitis with arthritis HP:0001370 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0002923 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature Orphanet:73224 biolink:Disease Kidney tubulopathy-dilated cardiomyopathy syndrome HP:0001644 biolink:PhenotypicFeature HP:0001960 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002917 biolink:PhenotypicFeature HP:0012608 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000859 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003472 biolink:PhenotypicFeature HP:0003527 biolink:PhenotypicFeature HP:0003739 biolink:PhenotypicFeature HP:0006559 biolink:PhenotypicFeature HP:0011038 biolink:PhenotypicFeature HP:0100598 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature Orphanet:2239 biolink:Disease Familial isolated hypoparathyroidism due to agenesis of parathyroid gland HP:0002901 biolink:PhenotypicFeature HP:0008198 biolink:PhenotypicFeature HP:0008211 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0002199 biolink:PhenotypicFeature HP:0002905 biolink:PhenotypicFeature HP:0003251 biolink:PhenotypicFeature HP:0002917 biolink:PhenotypicFeature Orphanet:424 biolink:Disease Familial hyperthyroidism due to mutations in TSH receptor HP:0000836 biolink:PhenotypicFeature HP:0011790 biolink:PhenotypicFeature HP:0000853 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0008249 biolink:PhenotypicFeature HP:0011784 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0012372 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature Orphanet:280356 biolink:Disease PLIN1-related familial partial lipodystrophy HP:0000822 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000877 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0003635 biolink:PhenotypicFeature HP:0003758 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0009017 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0003117 biolink:PhenotypicFeature Orphanet:90158 biolink:Disease Idiopathic localized lipodystrophy HP:0100578 biolink:PhenotypicFeature HP:0003758 biolink:PhenotypicFeature HP:0007485 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0012344 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0100324 biolink:PhenotypicFeature Orphanet:90157 biolink:Disease Drug-induced localized lipodystrophy HP:0100578 biolink:PhenotypicFeature HP:0003758 biolink:PhenotypicFeature HP:0007485 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature Orphanet:300493 biolink:Disease Sagliker syndrome HP:0000164 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0003165 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0005101 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0012290 biolink:PhenotypicFeature Orphanet:420794 biolink:Disease Cono-spondylar dysplasia HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001799 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002370 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002656 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0008093 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0001338 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0005792 biolink:PhenotypicFeature HP:0006385 biolink:PhenotypicFeature HP:0012537 biolink:PhenotypicFeature HP:0000943 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0010230 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:1054 biolink:Disease Aneurysm of sinus of Valsalva HP:0011645 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0006689 biolink:PhenotypicFeature HP:0100520 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:166113 biolink:Disease Bazex syndrome HP:0000962 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001036 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0011367 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0012034 biolink:PhenotypicFeature HP:0100816 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0030078 biolink:PhenotypicFeature Orphanet:3309 biolink:Disease Tetrasomy 5p HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0006931 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002880 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0005989 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0010109 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0001612 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0007483 biolink:PhenotypicFeature HP:0007930 biolink:PhenotypicFeature HP:0010318 biolink:PhenotypicFeature Orphanet:444463 biolink:Disease Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome HP:0001269 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0001890 biolink:PhenotypicFeature HP:0001973 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature Orphanet:254478 biolink:Disease Lichen planus pemphigoides HP:0000962 biolink:PhenotypicFeature HP:0007535 biolink:PhenotypicFeature HP:0100725 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0011830 biolink:PhenotypicFeature HP:0000498 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature Orphanet:1600 biolink:Disease Monosomy 18q HP:0005148 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007204 biolink:PhenotypicFeature HP:0008240 biolink:PhenotypicFeature HP:0008513 biolink:PhenotypicFeature HP:0008689 biolink:PhenotypicFeature HP:0012447 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000452 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001533 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001684 biolink:PhenotypicFeature HP:0001724 biolink:PhenotypicFeature HP:0002720 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0005134 biolink:PhenotypicFeature HP:0005164 biolink:PhenotypicFeature HP:0011596 biolink:PhenotypicFeature HP:0012382 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0003413 biolink:PhenotypicFeature HP:0009592 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000479 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0001018 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002370 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:251909 biolink:Disease Pineoblastoma HP:0010799 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0002344 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000619 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0001085 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0007045 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007987 biolink:PhenotypicFeature HP:0009919 biolink:PhenotypicFeature HP:0100576 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature Orphanet:137867 biolink:Disease Madras motor neuron disease HP:0000407 biolink:PhenotypicFeature HP:0001283 biolink:PhenotypicFeature HP:0001621 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0007289 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature Orphanet:251992 biolink:Disease Ganglioneuroma HP:0003005 biolink:PhenotypicFeature HP:0000834 biolink:PhenotypicFeature HP:0005220 biolink:PhenotypicFeature HP:0045026 biolink:PhenotypicFeature HP:0200063 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0004390 biolink:PhenotypicFeature HP:0005249 biolink:PhenotypicFeature HP:0100631 biolink:PhenotypicFeature HP:0000315 biolink:PhenotypicFeature HP:0002034 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0003330 biolink:PhenotypicFeature HP:0007110 biolink:PhenotypicFeature HP:0008775 biolink:PhenotypicFeature Orphanet:139426 biolink:Disease Perioral myoclonia with absences HP:0002069 biolink:PhenotypicFeature HP:0010850 biolink:PhenotypicFeature HP:0002371 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0011168 biolink:PhenotypicFeature HP:0012462 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature Orphanet:228240 biolink:Disease Elastoderma HP:0200034 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature HP:0100963 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001055 biolink:PhenotypicFeature HP:0000973 biolink:PhenotypicFeature HP:0100678 biolink:PhenotypicFeature Orphanet:160148 biolink:Disease Cap polyposis HP:0200063 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002573 biolink:PhenotypicFeature HP:0002582 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature Orphanet:139414 biolink:Disease Congenital panfollicular nevus HP:0010566 biolink:PhenotypicFeature HP:0012500 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature Orphanet:140933 biolink:Disease Linear atrophoderma of Moulin HP:0007546 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0030053 biolink:PhenotypicFeature HP:0100324 biolink:PhenotypicFeature Orphanet:436182 biolink:Disease Microcephalic primordial dwarfism-insulin resistance syndrome HP:0000347 biolink:PhenotypicFeature HP:0000831 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0008193 biolink:PhenotypicFeature HP:0008890 biolink:PhenotypicFeature HP:0010620 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0007875 biolink:PhenotypicFeature Orphanet:436274 biolink:Disease Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa HP:0000510 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0000973 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0007522 biolink:PhenotypicFeature HP:0007843 biolink:PhenotypicFeature HP:0007980 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0001098 biolink:PhenotypicFeature Orphanet:71 biolink:Disease Chylomicron retention disease HP:0002014 biolink:PhenotypicFeature HP:0003146 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0002570 biolink:PhenotypicFeature HP:0002630 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0006565 biolink:PhenotypicFeature HP:0100508 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001927 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature Orphanet:2197 biolink:Disease Idiopathic hypercalciuria HP:0002150 biolink:PhenotypicFeature HP:0012637 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0008672 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0003529 biolink:PhenotypicFeature HP:0040077 biolink:PhenotypicFeature Orphanet:436144 biolink:Disease Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome HP:0001511 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature Orphanet:140905 biolink:Disease Hyperlipidemia due to hepatic triacylglycerol lipase deficiency HP:0002155 biolink:PhenotypicFeature HP:0012184 biolink:PhenotypicFeature HP:0001013 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0005181 biolink:PhenotypicFeature Orphanet:436003 biolink:Disease Contractures-developmental delay-Pierre Robin syndrome HP:0000750 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0000162 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0012430 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000394 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0001239 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002687 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002944 biolink:PhenotypicFeature HP:0004969 biolink:PhenotypicFeature HP:0007099 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009929 biolink:PhenotypicFeature HP:0025100 biolink:PhenotypicFeature Orphanet:436141 biolink:Disease Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HP:0000280 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003028 biolink:PhenotypicFeature HP:0006094 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature Orphanet:3379 biolink:Disease Distal trisomy 17q HP:0001263 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0002000 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002572 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0009911 biolink:PhenotypicFeature HP:0000075 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001747 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0006897 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature Orphanet:444051 biolink:Disease 20q11.2 microdeletion syndrome HP:0000490 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000598 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001884 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002508 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0040019 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature Orphanet:36367 biolink:Disease Distal monosomy 1q HP:0004322 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature Orphanet:444002 biolink:Disease 11q22.2q22.3 microdeletion syndrome HP:0000739 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000753 biolink:PhenotypicFeature HP:0000817 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0011368 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0030190 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature Orphanet:83601 biolink:Disease Steroid-responsive encephalopathy associated with autoimmune thyroiditis HP:0006846 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0005318 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000853 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0007087 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0005991 biolink:PhenotypicFeature HP:0002181 biolink:PhenotypicFeature Orphanet:440713 biolink:Disease Isolated sedoheptulokinase deficiency HP:0001371 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0012768 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000091 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000586 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001540 biolink:PhenotypicFeature HP:0001623 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002570 biolink:PhenotypicFeature HP:0002611 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004840 biolink:PhenotypicFeature HP:0008850 biolink:PhenotypicFeature HP:0011400 biolink:PhenotypicFeature HP:0011998 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012157 biolink:PhenotypicFeature HP:0100886 biolink:PhenotypicFeature Orphanet:439232 biolink:Disease AApoAIV amyloidosis HP:0003259 biolink:PhenotypicFeature HP:0100957 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001917 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0030843 biolink:PhenotypicFeature HP:0030872 biolink:PhenotypicFeature HP:0032613 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000096 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001677 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0006510 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0011713 biolink:PhenotypicFeature HP:0031047 biolink:PhenotypicFeature HP:0031546 biolink:PhenotypicFeature HP:0032092 biolink:PhenotypicFeature HP:0001688 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0004381 biolink:PhenotypicFeature HP:0004749 biolink:PhenotypicFeature HP:0005110 biolink:PhenotypicFeature HP:0012309 biolink:PhenotypicFeature Orphanet:440354 biolink:Disease Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome HP:0000175 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0002781 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0000162 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000882 biolink:PhenotypicFeature HP:0000947 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002980 biolink:PhenotypicFeature HP:0003016 biolink:PhenotypicFeature HP:0003097 biolink:PhenotypicFeature HP:0011003 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:1959 biolink:Disease Evans syndrome HP:0001890 biolink:PhenotypicFeature HP:0001973 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0001904 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature Orphanet:3002 biolink:Disease Immune thrombocytopenia HP:0001873 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature Orphanet:186 biolink:Disease Primary biliary cholangitis HP:0000952 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001278 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0002841 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003119 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0003496 biolink:PhenotypicFeature HP:0011040 biolink:PhenotypicFeature HP:0012203 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002608 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003261 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0004386 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0002613 biolink:PhenotypicFeature HP:0002908 biolink:PhenotypicFeature HP:0011971 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature Orphanet:163934 biolink:Disease Atopic keratoconjunctivitis HP:0000491 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000498 biolink:PhenotypicFeature HP:0011457 biolink:PhenotypicFeature HP:0011496 biolink:PhenotypicFeature HP:0012375 biolink:PhenotypicFeature Orphanet:589 biolink:Disease Myasthenia gravis HP:0001324 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000777 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001283 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0030006 biolink:PhenotypicFeature HP:0030208 biolink:PhenotypicFeature HP:0030210 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000836 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0001370 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0003076 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature HP:0010780 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0001063 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012410 biolink:PhenotypicFeature Orphanet:65759 biolink:Disease Carpenter syndrome HP:0002751 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000263 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature HP:0000262 biolink:PhenotypicFeature HP:0000481 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001841 biolink:PhenotypicFeature HP:0002676 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0012243 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001748 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature Orphanet:83472 biolink:Disease CAMOS syndrome HP:0000083 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0007153 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature Orphanet:435938 biolink:Disease X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0000219 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0008850 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0004415 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006466 biolink:PhenotypicFeature HP:0009796 biolink:PhenotypicFeature HP:0012033 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:435934 biolink:Disease COG2-CDG HP:0001249 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002361 biolink:PhenotypicFeature HP:0002506 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0003256 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0010837 biolink:PhenotypicFeature HP:0011967 biolink:PhenotypicFeature HP:0012506 biolink:PhenotypicFeature Orphanet:435804 biolink:Disease Short stature-advanced bone age-early-onset osteoarthritis syndrome HP:0001156 biolink:PhenotypicFeature HP:0007281 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature Orphanet:435638 biolink:Disease 3p25.3 microdeletion syndrome HP:0001270 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001233 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001677 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003086 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006585 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0010663 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0012762 biolink:PhenotypicFeature HP:0100259 biolink:PhenotypicFeature Orphanet:827 biolink:Disease Stargardt disease HP:0007663 biolink:PhenotypicFeature HP:0000493 biolink:PhenotypicFeature HP:0000551 biolink:PhenotypicFeature HP:0000603 biolink:PhenotypicFeature HP:0000608 biolink:PhenotypicFeature HP:0000610 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0007704 biolink:PhenotypicFeature HP:0007722 biolink:PhenotypicFeature HP:0007814 biolink:PhenotypicFeature HP:0008002 biolink:PhenotypicFeature HP:0030329 biolink:PhenotypicFeature HP:0008059 biolink:PhenotypicFeature HP:0030500 biolink:PhenotypicFeature Orphanet:785 biolink:Disease Estrogen resistance syndrome HP:0000013 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001548 biolink:PhenotypicFeature HP:0002663 biolink:PhenotypicFeature HP:0003117 biolink:PhenotypicFeature HP:0003187 biolink:PhenotypicFeature HP:0003799 biolink:PhenotypicFeature HP:0008187 biolink:PhenotypicFeature HP:0008197 biolink:PhenotypicFeature HP:0008675 biolink:PhenotypicFeature HP:0000833 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0004929 biolink:PhenotypicFeature HP:0010679 biolink:PhenotypicFeature HP:0000834 biolink:PhenotypicFeature HP:0030087 biolink:PhenotypicFeature HP:0100133 biolink:PhenotypicFeature Orphanet:2232 biolink:Disease Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000815 biolink:PhenotypicFeature HP:0002293 biolink:PhenotypicFeature HP:0008193 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0003187 biolink:PhenotypicFeature HP:0003799 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0007464 biolink:PhenotypicFeature HP:0008187 biolink:PhenotypicFeature HP:0008214 biolink:PhenotypicFeature HP:0008230 biolink:PhenotypicFeature HP:0008633 biolink:PhenotypicFeature HP:0008684 biolink:PhenotypicFeature HP:0010463 biolink:PhenotypicFeature HP:0010464 biolink:PhenotypicFeature HP:0011961 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000535 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0002225 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0003393 biolink:PhenotypicFeature HP:0006184 biolink:PhenotypicFeature HP:0009185 biolink:PhenotypicFeature HP:0010487 biolink:PhenotypicFeature HP:0012506 biolink:PhenotypicFeature Orphanet:435628 biolink:Disease Keppen-Lubinsky syndrome HP:0005328 biolink:PhenotypicFeature HP:0009059 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0100678 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000290 biolink:PhenotypicFeature HP:0000292 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000586 biolink:PhenotypicFeature HP:0001090 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002179 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002781 biolink:PhenotypicFeature HP:0005274 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0009933 biolink:PhenotypicFeature HP:0010751 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature Orphanet:3198 biolink:Disease Stiff person spectrum disorder HP:0000739 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0011964 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000756 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002267 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0012894 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature Orphanet:683 biolink:Disease Progressive supranuclear palsy HP:0000605 biolink:PhenotypicFeature HP:0000623 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature HP:0002529 biolink:PhenotypicFeature HP:0012535 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0000511 biolink:PhenotypicFeature HP:0000514 biolink:PhenotypicFeature HP:0000643 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002171 biolink:PhenotypicFeature HP:0002200 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature Orphanet:258 biolink:Disease Laminin subunit alpha 2-related congenital muscular dystrophy HP:0001252 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001612 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002375 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003560 biolink:PhenotypicFeature HP:0003741 biolink:PhenotypicFeature HP:0009025 biolink:PhenotypicFeature HP:0030091 biolink:PhenotypicFeature HP:0030234 biolink:PhenotypicFeature HP:0100295 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0002181 biolink:PhenotypicFeature HP:0002446 biolink:PhenotypicFeature HP:0002783 biolink:PhenotypicFeature HP:0002835 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0010754 biolink:PhenotypicFeature HP:0012747 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002058 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002791 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0004878 biolink:PhenotypicFeature HP:0006879 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0010808 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012664 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature Orphanet:1359 biolink:Disease Carney complex HP:0001580 biolink:PhenotypicFeature HP:0000138 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0000866 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0001003 biolink:PhenotypicFeature HP:0001074 biolink:PhenotypicFeature HP:0003118 biolink:PhenotypicFeature HP:0005585 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0010785 biolink:PhenotypicFeature HP:0010788 biolink:PhenotypicFeature HP:0011672 biolink:PhenotypicFeature HP:0011760 biolink:PhenotypicFeature HP:0030269 biolink:PhenotypicFeature HP:0030428 biolink:PhenotypicFeature HP:0100619 biolink:PhenotypicFeature HP:0100814 biolink:PhenotypicFeature HP:0000008 biolink:PhenotypicFeature HP:0000053 biolink:PhenotypicFeature HP:0000199 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000798 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001065 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001507 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature HP:0004324 biolink:PhenotypicFeature HP:0006753 biolink:PhenotypicFeature HP:0010619 biolink:PhenotypicFeature HP:0010732 biolink:PhenotypicFeature HP:0012041 biolink:PhenotypicFeature HP:0012206 biolink:PhenotypicFeature HP:0012743 biolink:PhenotypicFeature HP:0012887 biolink:PhenotypicFeature HP:0025274 biolink:PhenotypicFeature HP:0025318 biolink:PhenotypicFeature HP:0025383 biolink:PhenotypicFeature HP:0025451 biolink:PhenotypicFeature HP:0030038 biolink:PhenotypicFeature HP:0030072 biolink:PhenotypicFeature HP:0030075 biolink:PhenotypicFeature HP:0100008 biolink:PhenotypicFeature HP:0100013 biolink:PhenotypicFeature HP:0100618 biolink:PhenotypicFeature HP:0100638 biolink:PhenotypicFeature HP:0100737 biolink:PhenotypicFeature HP:0100751 biolink:PhenotypicFeature HP:0500011 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0002890 biolink:PhenotypicFeature HP:0002894 biolink:PhenotypicFeature HP:0002895 biolink:PhenotypicFeature HP:0004944 biolink:PhenotypicFeature HP:0006731 biolink:PhenotypicFeature HP:0100743 biolink:PhenotypicFeature Orphanet:104 biolink:Disease Leber hereditary optic neuropathy HP:0007763 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0007924 biolink:PhenotypicFeature HP:0200125 biolink:PhenotypicFeature HP:0000576 biolink:PhenotypicFeature HP:0000603 biolink:PhenotypicFeature HP:0012841 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0004309 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature Orphanet:91 biolink:Disease Aromatase deficiency HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002663 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0003251 biolink:PhenotypicFeature HP:0003782 biolink:PhenotypicFeature HP:0008072 biolink:PhenotypicFeature HP:0008222 biolink:PhenotypicFeature HP:0008675 biolink:PhenotypicFeature HP:0010458 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0002050 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000061 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature Orphanet:401942 biolink:Disease Familial median cleft of the upper and lower lips HP:0000161 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000277 biolink:PhenotypicFeature HP:0000309 biolink:PhenotypicFeature HP:0000326 biolink:PhenotypicFeature HP:0000699 biolink:PhenotypicFeature HP:0010281 biolink:PhenotypicFeature HP:0012292 biolink:PhenotypicFeature HP:0040079 biolink:PhenotypicFeature HP:3000010 biolink:PhenotypicFeature Orphanet:86822 biolink:Disease Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0001511 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000282 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001338 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature HP:0002365 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0003330 biolink:PhenotypicFeature HP:0003405 biolink:PhenotypicFeature HP:0006827 biolink:PhenotypicFeature HP:0006872 biolink:PhenotypicFeature HP:0007190 biolink:PhenotypicFeature HP:0008178 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010655 biolink:PhenotypicFeature HP:0012697 biolink:PhenotypicFeature Orphanet:141096 biolink:Disease Supernumerary nostril HP:0009934 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0002006 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:3000040 biolink:PhenotypicFeature Orphanet:171851 biolink:Disease MEDNIK syndrome HP:0000962 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002242 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0001406 biolink:PhenotypicFeature HP:0010837 biolink:PhenotypicFeature HP:0011967 biolink:PhenotypicFeature Orphanet:209981 biolink:Disease IRIDA syndrome HP:0000980 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002242 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0001406 biolink:PhenotypicFeature HP:0011967 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature Orphanet:2795 biolink:Disease Fowler urethral sphincter dysfunction syndrome HP:0000147 biolink:PhenotypicFeature HP:0000795 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature HP:0000016 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000132 biolink:PhenotypicFeature HP:0000137 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature Orphanet:279947 biolink:Disease Postorgasmic illness syndrome HP:0011446 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000366 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature Orphanet:324416 biolink:Disease Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome HP:0002438 biolink:PhenotypicFeature HP:0003741 biolink:PhenotypicFeature HP:0007973 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0007260 biolink:PhenotypicFeature HP:0007700 biolink:PhenotypicFeature HP:0000078 biolink:PhenotypicFeature HP:0004488 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0002085 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature Orphanet:293807 biolink:Disease Ketamine-induced biliary dilatation HP:0000738 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0012440 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature Orphanet:314034 biolink:Disease 7p22.1 microduplication syndrome HP:0000028 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature Orphanet:329329 biolink:Disease Autosomal recessive frontotemporal pachygyria HP:0000020 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature Orphanet:3464 biolink:Disease Woodhouse-Sakati syndrome HP:0000013 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000831 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001587 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0005135 biolink:PhenotypicFeature HP:0008214 biolink:PhenotypicFeature HP:0008230 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0008669 biolink:PhenotypicFeature HP:0008697 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0010464 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000674 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature Orphanet:1935 biolink:Disease Early myoclonic encephalopathy HP:0001336 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0011153 biolink:PhenotypicFeature HP:0011168 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0200134 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0011167 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature Orphanet:1349 biolink:Disease Mitochondrial DNA-related cardiomyopathy and hearing loss HP:0000407 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0000590 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0003200 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0003542 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0012514 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001012 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0009126 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:179 biolink:Disease Birdshot chorioretinopathy HP:0007843 biolink:PhenotypicFeature HP:0011508 biolink:PhenotypicFeature HP:0030329 biolink:PhenotypicFeature HP:0030644 biolink:PhenotypicFeature HP:0100014 biolink:PhenotypicFeature HP:0100533 biolink:PhenotypicFeature HP:0100832 biolink:PhenotypicFeature HP:0200056 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0011506 biolink:PhenotypicFeature HP:0030530 biolink:PhenotypicFeature HP:0000532 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000610 biolink:PhenotypicFeature HP:0007906 biolink:PhenotypicFeature HP:0008046 biolink:PhenotypicFeature HP:0011505 biolink:PhenotypicFeature HP:0011531 biolink:PhenotypicFeature HP:0030609 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature Orphanet:411777 biolink:Disease Generalized eruptive keratoacanthoma HP:0000656 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0000481 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature Orphanet:29073 biolink:Disease Multiple myeloma HP:0000938 biolink:PhenotypicFeature HP:0002756 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0002152 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0003237 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000014 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002176 biolink:PhenotypicFeature HP:0002953 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0003261 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0004341 biolink:PhenotypicFeature HP:0012719 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature Orphanet:93109 biolink:Disease Congenital megacalycosis HP:0100581 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000105 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0012211 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0006000 biolink:PhenotypicFeature Orphanet:137599 biolink:Disease Herpes simplex virus stromal keratitis HP:0007663 biolink:PhenotypicFeature HP:0007765 biolink:PhenotypicFeature HP:0012040 biolink:PhenotypicFeature HP:0012108 biolink:PhenotypicFeature HP:0007812 biolink:PhenotypicFeature HP:0009926 biolink:PhenotypicFeature HP:0012039 biolink:PhenotypicFeature HP:0012155 biolink:PhenotypicFeature HP:0100583 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature Orphanet:101028 biolink:Disease Transaldolase deficiency HP:0001394 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0010903 biolink:PhenotypicFeature HP:0012202 biolink:PhenotypicFeature HP:0000056 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001009 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0100678 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002795 biolink:PhenotypicFeature HP:0200128 biolink:PhenotypicFeature Orphanet:226313 biolink:Disease Congenital hypothyroidism due to maternal intake of antithyroid drugs HP:0000851 biolink:PhenotypicFeature HP:0000853 biolink:PhenotypicFeature HP:0002925 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0031507 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0001070 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001538 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002663 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0008820 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0100786 biolink:PhenotypicFeature HP:0500011 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0004491 biolink:PhenotypicFeature Orphanet:435660 biolink:Disease LIPE-related familial partial lipodystrophy HP:0002155 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003292 biolink:PhenotypicFeature HP:0008356 biolink:PhenotypicFeature HP:0008993 biolink:PhenotypicFeature HP:0009017 biolink:PhenotypicFeature HP:0000468 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0003635 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000831 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0009042 biolink:PhenotypicFeature HP:0012881 biolink:PhenotypicFeature HP:0030685 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature Orphanet:435651 biolink:Disease CIDEC-related familial partial lipodystrophy HP:0003635 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000831 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003292 biolink:PhenotypicFeature HP:0008356 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0009017 biolink:PhenotypicFeature HP:0009042 biolink:PhenotypicFeature HP:0030685 biolink:PhenotypicFeature HP:0000292 biolink:PhenotypicFeature Orphanet:2867 biolink:Disease Short stature, Brussels type HP:0001510 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0002663 biolink:PhenotypicFeature HP:0100593 biolink:PhenotypicFeature Orphanet:94058 biolink:Disease Neovascular glaucoma HP:0000501 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0011497 biolink:PhenotypicFeature HP:0012636 biolink:PhenotypicFeature HP:0000553 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0007906 biolink:PhenotypicFeature HP:0030532 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature HP:3000032 biolink:PhenotypicFeature HP:0000593 biolink:PhenotypicFeature HP:0004329 biolink:PhenotypicFeature HP:0007850 biolink:PhenotypicFeature HP:0012040 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature Orphanet:276399 biolink:Disease Familial multinodular goiter HP:0005987 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0005584 biolink:PhenotypicFeature HP:0100528 biolink:PhenotypicFeature HP:0100615 biolink:PhenotypicFeature HP:0100617 biolink:PhenotypicFeature HP:0100619 biolink:PhenotypicFeature HP:0200063 biolink:PhenotypicFeature HP:0002890 biolink:PhenotypicFeature HP:0006779 biolink:PhenotypicFeature HP:0007129 biolink:PhenotypicFeature HP:0030071 biolink:PhenotypicFeature HP:0030434 biolink:PhenotypicFeature HP:0000836 biolink:PhenotypicFeature Orphanet:313892 biolink:Disease Developmental and speech delay due to SOX5 deficiency HP:0001249 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0430028 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002711 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0002948 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0005659 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0000078 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003316 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:275766 biolink:Disease Idiopathic pulmonary arterial hypertension HP:0002094 biolink:PhenotypicFeature HP:0001667 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0004890 biolink:PhenotypicFeature HP:0005317 biolink:PhenotypicFeature HP:3000042 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001785 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0012098 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0003549 biolink:PhenotypicFeature HP:0004870 biolink:PhenotypicFeature Orphanet:79106 biolink:Disease Eiken syndrome HP:0002656 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0006376 biolink:PhenotypicFeature HP:0001169 biolink:PhenotypicFeature HP:0001211 biolink:PhenotypicFeature HP:0001769 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002663 biolink:PhenotypicFeature HP:0002753 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0003025 biolink:PhenotypicFeature HP:0003038 biolink:PhenotypicFeature HP:0003170 biolink:PhenotypicFeature HP:0003275 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008800 biolink:PhenotypicFeature HP:0008808 biolink:PhenotypicFeature HP:0009803 biolink:PhenotypicFeature HP:0010305 biolink:PhenotypicFeature HP:0011849 biolink:PhenotypicFeature HP:0100671 biolink:PhenotypicFeature Orphanet:440727 biolink:Disease Combined hamartoma of the retina and retinal pigment epithelium HP:0000577 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000579 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007773 biolink:PhenotypicFeature HP:0012795 biolink:PhenotypicFeature HP:0012841 biolink:PhenotypicFeature Orphanet:228277 biolink:Disease Familial anetoderma HP:0200034 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002761 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0040079 biolink:PhenotypicFeature Orphanet:139444 biolink:Disease Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002352 biolink:PhenotypicFeature HP:0010576 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature Orphanet:199267 biolink:Disease Infantile digital fibromatosis HP:0200036 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001036 biolink:PhenotypicFeature HP:0025092 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature Orphanet:91130 biolink:Disease Cardiomyopathy-hypotonia-lactic acidosis syndrome HP:0001252 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0012103 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0009805 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature Orphanet:79134 biolink:Disease DEND syndrome HP:0003074 biolink:PhenotypicFeature HP:0040217 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0009894 biolink:PhenotypicFeature HP:0040025 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature Orphanet:602 biolink:Disease GNE myopathy HP:0003805 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0008963 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0012548 biolink:PhenotypicFeature HP:0100299 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0003438 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003547 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0006251 biolink:PhenotypicFeature HP:0006467 biolink:PhenotypicFeature HP:0012515 biolink:PhenotypicFeature HP:0030007 biolink:PhenotypicFeature HP:0100284 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001436 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0003724 biolink:PhenotypicFeature HP:0007210 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0040047 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0009077 biolink:PhenotypicFeature HP:0003731 biolink:PhenotypicFeature Orphanet:431329 biolink:Disease Autosomal recessive spastic paraplegia type 57 HP:0003134 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0003698 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0005109 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007178 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012447 biolink:PhenotypicFeature Orphanet:543 biolink:Disease Burkitt lymphoma HP:0002149 biolink:PhenotypicFeature HP:0005561 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0100649 biolink:PhenotypicFeature HP:0000137 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001732 biolink:PhenotypicFeature HP:0001743 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002733 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0005407 biolink:PhenotypicFeature Orphanet:79083 biolink:Disease PPARG-related familial partial lipodystrophy HP:0000822 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000831 biolink:PhenotypicFeature HP:0000991 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003635 biolink:PhenotypicFeature HP:0003712 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0002621 biolink:PhenotypicFeature HP:0009042 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000292 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001677 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003707 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0012084 biolink:PhenotypicFeature HP:0100601 biolink:PhenotypicFeature HP:0100607 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0007457 biolink:PhenotypicFeature Orphanet:411629 biolink:Disease Infantile nephropathic cystinosis HP:0000124 biolink:PhenotypicFeature HP:0000531 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001941 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0001969 biolink:PhenotypicFeature HP:0001994 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002148 biolink:PhenotypicFeature HP:0002748 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0003076 biolink:PhenotypicFeature HP:0003109 biolink:PhenotypicFeature HP:0003111 biolink:PhenotypicFeature HP:0003126 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0004918 biolink:PhenotypicFeature HP:0100511 biolink:PhenotypicFeature HP:0000481 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0002926 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:217335 biolink:Disease RIN2 syndrome HP:0000159 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0011232 biolink:PhenotypicFeature HP:0012724 biolink:PhenotypicFeature HP:0040079 biolink:PhenotypicFeature HP:0000766 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001724 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0011003 biolink:PhenotypicFeature Orphanet:2985 biolink:Disease Pseudoprogeria syndrome HP:0000561 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002223 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000320 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000535 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002478 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0004423 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0009745 biolink:PhenotypicFeature HP:0011832 biolink:PhenotypicFeature Orphanet:668 biolink:Disease Osteosarcoma HP:0002797 biolink:PhenotypicFeature HP:0006489 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0006491 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0045040 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002756 biolink:PhenotypicFeature Orphanet:411593 biolink:Disease Insulin autoimmune syndrome HP:0000825 biolink:PhenotypicFeature HP:0000831 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001958 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003162 biolink:PhenotypicFeature HP:0005059 biolink:PhenotypicFeature HP:0012051 biolink:PhenotypicFeature Orphanet:221054 biolink:Disease Acrocephalopolydactyly HP:0000153 biolink:PhenotypicFeature HP:0000234 biolink:PhenotypicFeature HP:0000263 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000476 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001538 biolink:PhenotypicFeature HP:0002816 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005257 biolink:PhenotypicFeature HP:0005458 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0012210 biolink:PhenotypicFeature Orphanet:79085 biolink:Disease AKT2-related familial partial lipodystrophy HP:0000855 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003292 biolink:PhenotypicFeature HP:0008356 biolink:PhenotypicFeature HP:0008993 biolink:PhenotypicFeature HP:0030685 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000831 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature Orphanet:391411 biolink:Disease Atypical juvenile parkinsonism HP:0002540 biolink:PhenotypicFeature HP:0007164 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001621 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002304 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007311 biolink:PhenotypicFeature HP:0008969 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0012638 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002362 biolink:PhenotypicFeature HP:0002425 biolink:PhenotypicFeature HP:0000338 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature Orphanet:95 biolink:Disease Friedreich ataxia HP:0002066 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0009130 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature HP:0000570 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002522 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature HP:0003390 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0010873 biolink:PhenotypicFeature HP:0030183 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002546 biolink:PhenotypicFeature HP:0003431 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature Orphanet:293843 biolink:Disease 3MC syndrome HP:0000365 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000537 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0006394 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000593 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001540 biolink:PhenotypicFeature HP:0002265 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0008689 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0002825 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0005105 biolink:PhenotypicFeature HP:0040016 biolink:PhenotypicFeature Orphanet:206484 biolink:Disease Gonadoblastoma HP:0000062 biolink:PhenotypicFeature HP:0000137 biolink:PhenotypicFeature HP:0000149 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0008730 biolink:PhenotypicFeature HP:0008723 biolink:PhenotypicFeature HP:0008703 biolink:PhenotypicFeature HP:0030088 biolink:PhenotypicFeature HP:0100621 biolink:PhenotypicFeature Orphanet:261222 biolink:Disease Distal 16p11.2 microdeletion syndrome HP:0000076 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000300 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0011351 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature Orphanet:261524 biolink:Disease Paternal uniparental disomy of chromosome X HP:0000054 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000914 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0100853 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature Orphanet:313855 biolink:Disease FGFR2-related bent bone dysplasia HP:0000057 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000485 biolink:PhenotypicFeature HP:0000695 biolink:PhenotypicFeature HP:0000894 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001591 biolink:PhenotypicFeature HP:0001978 biolink:PhenotypicFeature HP:0004440 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0002979 biolink:PhenotypicFeature HP:0003175 biolink:PhenotypicFeature HP:0004453 biolink:PhenotypicFeature HP:0005474 biolink:PhenotypicFeature HP:0007642 biolink:PhenotypicFeature HP:0010455 biolink:PhenotypicFeature HP:0011223 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0030042 biolink:PhenotypicFeature HP:0040166 biolink:PhenotypicFeature Orphanet:1652 biolink:Disease Dent disease HP:0000083 biolink:PhenotypicFeature HP:0000092 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000097 biolink:PhenotypicFeature HP:0000114 biolink:PhenotypicFeature HP:0000117 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002663 biolink:PhenotypicFeature HP:0002748 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0002749 biolink:PhenotypicFeature HP:0002752 biolink:PhenotypicFeature HP:0002753 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0002979 biolink:PhenotypicFeature HP:0003013 biolink:PhenotypicFeature HP:0010580 biolink:PhenotypicFeature HP:0003020 biolink:PhenotypicFeature HP:0003025 biolink:PhenotypicFeature HP:0003029 biolink:PhenotypicFeature HP:0003076 biolink:PhenotypicFeature HP:0003109 biolink:PhenotypicFeature HP:0003126 biolink:PhenotypicFeature HP:0003149 biolink:PhenotypicFeature HP:0003152 biolink:PhenotypicFeature HP:0005576 biolink:PhenotypicFeature HP:0005574 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0008732 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature Orphanet:99879 biolink:Disease Familial isolated hyperparathyroidism HP:0000083 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000934 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0002148 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0002897 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0003109 biolink:PhenotypicFeature HP:0003165 biolink:PhenotypicFeature HP:0008200 biolink:PhenotypicFeature HP:0008250 biolink:PhenotypicFeature HP:0011458 biolink:PhenotypicFeature HP:0040160 biolink:PhenotypicFeature Orphanet:85443 biolink:Disease AL amyloidosis HP:0012378 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0003115 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0012592 biolink:PhenotypicFeature HP:0031185 biolink:PhenotypicFeature HP:0031326 biolink:PhenotypicFeature HP:0032613 biolink:PhenotypicFeature HP:0410173 biolink:PhenotypicFeature HP:0410174 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001713 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002271 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0005120 biolink:PhenotypicFeature HP:0005307 biolink:PhenotypicFeature HP:0008321 biolink:PhenotypicFeature HP:0008652 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010286 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012185 biolink:PhenotypicFeature HP:0012398 biolink:PhenotypicFeature HP:0025389 biolink:PhenotypicFeature HP:0030164 biolink:PhenotypicFeature HP:0031246 biolink:PhenotypicFeature HP:0031595 biolink:PhenotypicFeature HP:0032550 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002578 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0012664 biolink:PhenotypicFeature Orphanet:330001 biolink:Disease Wild type ATTR amyloidosis HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002254 biolink:PhenotypicFeature HP:0002271 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0003115 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0004926 biolink:PhenotypicFeature HP:0005341 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0100598 biolink:PhenotypicFeature Orphanet:263455 biolink:Disease Hyperinsulinism due to HNF4A deficiency HP:0000093 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000825 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001985 biolink:PhenotypicFeature HP:0001994 biolink:PhenotypicFeature HP:0001998 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0002344 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003076 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0003162 biolink:PhenotypicFeature HP:0004324 biolink:PhenotypicFeature HP:0004359 biolink:PhenotypicFeature HP:0004510 biolink:PhenotypicFeature HP:0004912 biolink:PhenotypicFeature HP:0005979 biolink:PhenotypicFeature HP:0006568 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:314585 biolink:Disease 15q overgrowth syndrome HP:0000085 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000262 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000410 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000766 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0012210 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0001548 biolink:PhenotypicFeature HP:0001623 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0008519 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0006143 biolink:PhenotypicFeature HP:0000676 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0007642 biolink:PhenotypicFeature HP:0008714 biolink:PhenotypicFeature HP:0009471 biolink:PhenotypicFeature HP:0009540 biolink:PhenotypicFeature HP:0010653 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature Orphanet:2298 biolink:Disease Insulin-resistance syndrome type B HP:0000093 biolink:PhenotypicFeature HP:0000123 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000825 biolink:PhenotypicFeature HP:0000831 biolink:PhenotypicFeature HP:0000833 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001946 biolink:PhenotypicFeature HP:0001952 biolink:PhenotypicFeature HP:0001953 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002613 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003074 biolink:PhenotypicFeature HP:0003076 biolink:PhenotypicFeature HP:0003119 biolink:PhenotypicFeature HP:0003162 biolink:PhenotypicFeature HP:0003237 biolink:PhenotypicFeature HP:0003261 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0004323 biolink:PhenotypicFeature HP:0004324 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0004359 biolink:PhenotypicFeature HP:0004361 biolink:PhenotypicFeature HP:0004924 biolink:PhenotypicFeature HP:0005416 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0006775 biolink:PhenotypicFeature HP:0008283 biolink:PhenotypicFeature HP:0008675 biolink:PhenotypicFeature HP:0010286 biolink:PhenotypicFeature HP:0011998 biolink:PhenotypicFeature HP:0012153 biolink:PhenotypicFeature HP:0012189 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030088 biolink:PhenotypicFeature HP:0100879 biolink:PhenotypicFeature Orphanet:99725 biolink:Disease Pituitary gigantism HP:0000098 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0001833 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0006767 biolink:PhenotypicFeature HP:0011407 biolink:PhenotypicFeature HP:0011760 biolink:PhenotypicFeature HP:0012411 biolink:PhenotypicFeature HP:0030269 biolink:PhenotypicFeature HP:0100829 biolink:PhenotypicFeature Orphanet:99886 biolink:Disease Transient neonatal diabetes mellitus HP:0001511 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0003074 biolink:PhenotypicFeature HP:0040216 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0004904 biolink:PhenotypicFeature HP:0008255 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0040064 biolink:PhenotypicFeature HP:0001953 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature Orphanet:137634 biolink:Disease Overgrowth-macrocephaly-facial dysmorphism syndrome HP:0000098 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000267 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000766 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0001548 biolink:PhenotypicFeature HP:0001641 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0008058 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0012741 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature Orphanet:399808 biolink:Disease Male infertility with teratozoospermia due to single gene mutation HP:0000118 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0008669 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0011961 biolink:PhenotypicFeature HP:0012205 biolink:PhenotypicFeature HP:0012864 biolink:PhenotypicFeature HP:0012868 biolink:PhenotypicFeature Orphanet:90301 biolink:Disease Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome HP:0000105 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000831 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0008675 biolink:PhenotypicFeature Orphanet:293987 biolink:Disease Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome HP:0000256 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000633 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000805 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000863 biolink:PhenotypicFeature HP:0000864 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002418 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0002608 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0002783 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0002791 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003005 biolink:PhenotypicFeature HP:0003074 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0006543 biolink:PhenotypicFeature HP:0006747 biolink:PhenotypicFeature HP:0007110 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0007695 biolink:PhenotypicFeature HP:0008213 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011748 biolink:PhenotypicFeature HP:0011787 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012412 biolink:PhenotypicFeature HP:0012704 biolink:PhenotypicFeature HP:0030050 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:99885 biolink:Disease Isolated permanent neonatal diabetes mellitus HP:0000857 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0003074 biolink:PhenotypicFeature HP:0003076 biolink:PhenotypicFeature HP:0006274 biolink:PhenotypicFeature HP:0011106 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0002919 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0005750 biolink:PhenotypicFeature HP:0012594 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000124 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0002186 biolink:PhenotypicFeature HP:0002594 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0010935 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature Orphanet:73272 biolink:Disease Growth delay due to insulin-like growth factor type 1 deficiency HP:0000252 biolink:PhenotypicFeature HP:0000399 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008527 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0008846 biolink:PhenotypicFeature HP:0008850 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000153 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003265 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0006266 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0007911 biolink:PhenotypicFeature HP:0011120 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature Orphanet:397685 biolink:Disease Familial hyperprolactinemia HP:0000132 biolink:PhenotypicFeature HP:0000134 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0012886 biolink:PhenotypicFeature HP:0100829 biolink:PhenotypicFeature Orphanet:275761 biolink:Disease Lysosomal acid lipase deficiency HP:0000127 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0000991 biolink:PhenotypicFeature HP:0001114 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001414 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001922 biolink:PhenotypicFeature HP:0001941 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001971 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002040 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002361 biolink:PhenotypicFeature HP:0002570 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0012605 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0004333 biolink:PhenotypicFeature HP:0004395 biolink:PhenotypicFeature HP:0004416 biolink:PhenotypicFeature HP:0004929 biolink:PhenotypicFeature HP:0006583 biolink:PhenotypicFeature HP:0010512 biolink:PhenotypicFeature HP:0011106 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012598 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:314621 biolink:Disease Duplication of the pituitary gland HP:0000157 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000244 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000742 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002418 biolink:PhenotypicFeature HP:0002580 biolink:PhenotypicFeature HP:0002679 biolink:PhenotypicFeature HP:0002943 biolink:PhenotypicFeature HP:0003310 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0007036 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0007642 biolink:PhenotypicFeature HP:0009792 biolink:PhenotypicFeature HP:0100872 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0011729 biolink:PhenotypicFeature HP:0012286 biolink:PhenotypicFeature HP:0012503 biolink:PhenotypicFeature HP:0040199 biolink:PhenotypicFeature HP:3000005 biolink:PhenotypicFeature Orphanet:64739 biolink:Disease Ovarian hyperstimulation syndrome HP:0000138 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0007430 biolink:PhenotypicFeature HP:0008675 biolink:PhenotypicFeature HP:0011106 biolink:PhenotypicFeature HP:0012398 biolink:PhenotypicFeature HP:0030088 biolink:PhenotypicFeature HP:0012886 biolink:PhenotypicFeature HP:0030005 biolink:PhenotypicFeature HP:0100598 biolink:PhenotypicFeature Orphanet:314473 biolink:Disease Ovarian fibroma HP:0000137 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0008703 biolink:PhenotypicFeature HP:0010603 biolink:PhenotypicFeature HP:0010618 biolink:PhenotypicFeature HP:0030451 biolink:PhenotypicFeature Orphanet:314478 biolink:Disease Ovarian fibrothecoma HP:0000137 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0003117 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0006756 biolink:PhenotypicFeature HP:0008703 biolink:PhenotypicFeature HP:0010618 biolink:PhenotypicFeature HP:0030088 biolink:PhenotypicFeature HP:0030126 biolink:PhenotypicFeature HP:0100244 biolink:PhenotypicFeature HP:0100608 biolink:PhenotypicFeature Orphanet:436174 biolink:Disease Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome HP:0000160 biolink:PhenotypicFeature HP:0000399 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000408 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0002571 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002655 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0003162 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0005659 biolink:PhenotypicFeature HP:0007470 biolink:PhenotypicFeature HP:0008445 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature Orphanet:369950 biolink:Disease Intellectual disability-seizures-macrocephaly-obesity syndrome HP:0000158 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000629 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000805 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001051 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001716 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002003 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002046 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0011246 biolink:PhenotypicFeature HP:0012680 biolink:PhenotypicFeature HP:0100703 biolink:PhenotypicFeature Orphanet:293948 biolink:Disease 1p21.3 microdeletion syndrome HP:0000154 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000742 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0100738 biolink:PhenotypicFeature HP:0100962 biolink:PhenotypicFeature HP:0400004 biolink:PhenotypicFeature Orphanet:1715 biolink:Disease Trisomy 18p HP:0000160 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008689 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0040199 biolink:PhenotypicFeature Orphanet:1617 biolink:Disease 2q24 microdeletion syndrome HP:0000175 biolink:PhenotypicFeature HP:0000190 biolink:PhenotypicFeature HP:0000274 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000525 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001188 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002871 biolink:PhenotypicFeature HP:0010078 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature Orphanet:293939 biolink:Disease Distal Xq28 microduplication syndrome HP:0000200 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000817 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0003265 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003550 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0010862 biolink:PhenotypicFeature HP:0011234 biolink:PhenotypicFeature HP:0011730 biolink:PhenotypicFeature HP:0012169 biolink:PhenotypicFeature HP:0012172 biolink:PhenotypicFeature HP:0030051 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0012724 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature Orphanet:252164 biolink:Disease Benign schwannoma HP:0000197 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000769 biolink:PhenotypicFeature HP:0000834 biolink:PhenotypicFeature HP:0001291 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001600 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0002031 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature HP:0003489 biolink:PhenotypicFeature HP:0009588 biolink:PhenotypicFeature HP:0009593 biolink:PhenotypicFeature HP:0009911 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0010826 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0030177 biolink:PhenotypicFeature HP:0012533 biolink:PhenotypicFeature HP:0100008 biolink:PhenotypicFeature HP:0100011 biolink:PhenotypicFeature HP:0100582 biolink:PhenotypicFeature HP:0100697 biolink:PhenotypicFeature HP:0200008 biolink:PhenotypicFeature Orphanet:314795 biolink:Disease SHOX-related short stature HP:0000218 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0002982 biolink:PhenotypicFeature HP:0009821 biolink:PhenotypicFeature HP:0003067 biolink:PhenotypicFeature HP:0009816 biolink:PhenotypicFeature HP:0003712 biolink:PhenotypicFeature HP:0005856 biolink:PhenotypicFeature HP:0005974 biolink:PhenotypicFeature Orphanet:96201 biolink:Disease X small rings HP:0000219 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001718 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002616 biolink:PhenotypicFeature HP:0009824 biolink:PhenotypicFeature HP:0009816 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0007642 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0010945 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012725 biolink:PhenotypicFeature HP:0400000 biolink:PhenotypicFeature Orphanet:352530 biolink:Disease Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000219 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000851 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002047 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002265 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0007052 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0007642 biolink:PhenotypicFeature HP:0011228 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature Orphanet:276580 biolink:Disease Autosomal dominant hyperinsulinism due to Kir6.2 deficiency HP:0000825 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0001985 biolink:PhenotypicFeature HP:0003162 biolink:PhenotypicFeature HP:0030796 biolink:PhenotypicFeature HP:0031084 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001069 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002173 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0004924 biolink:PhenotypicFeature HP:0012759 biolink:PhenotypicFeature HP:0031224 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001325 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature Orphanet:276575 biolink:Disease Autosomal dominant hyperinsulinism due to SUR1 deficiency HP:0000825 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0001985 biolink:PhenotypicFeature HP:0003162 biolink:PhenotypicFeature HP:0030796 biolink:PhenotypicFeature HP:0031084 biolink:PhenotypicFeature HP:0040299 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001069 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002173 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0012759 biolink:PhenotypicFeature HP:0031223 biolink:PhenotypicFeature HP:0031224 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001325 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature Orphanet:199276 biolink:Disease Familial multiple lipomatosis HP:0000256 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001548 biolink:PhenotypicFeature HP:0001702 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002885 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0005249 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0006337 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0009126 biolink:PhenotypicFeature HP:0010603 biolink:PhenotypicFeature HP:0012424 biolink:PhenotypicFeature HP:0100702 biolink:PhenotypicFeature Orphanet:90646 biolink:Disease Deafness-hypogonadism syndrome HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000381 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000408 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0001100 biolink:PhenotypicFeature HP:0004452 biolink:PhenotypicFeature HP:0100503 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0007642 biolink:PhenotypicFeature HP:0008669 biolink:PhenotypicFeature HP:0011384 biolink:PhenotypicFeature HP:0011388 biolink:PhenotypicFeature HP:0012717 biolink:PhenotypicFeature Orphanet:319195 biolink:Disease Chondroectodermal dysplasia with night blindness HP:0000347 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0100255 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0009926 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001812 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002656 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0003025 biolink:PhenotypicFeature HP:0003045 biolink:PhenotypicFeature HP:0003084 biolink:PhenotypicFeature HP:0003886 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0007642 biolink:PhenotypicFeature HP:0008110 biolink:PhenotypicFeature HP:0008124 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0008394 biolink:PhenotypicFeature HP:0012542 biolink:PhenotypicFeature HP:0030055 biolink:PhenotypicFeature Orphanet:140941 biolink:Disease Short stature due to primary acid-labile subunit deficiency HP:0000347 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0030353 biolink:PhenotypicFeature Orphanet:97279 biolink:Disease Insulinoma HP:0000364 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000825 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001958 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0001988 biolink:PhenotypicFeature HP:0002044 biolink:PhenotypicFeature HP:0002494 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0004324 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0006476 biolink:PhenotypicFeature HP:0006767 biolink:PhenotypicFeature HP:0007159 biolink:PhenotypicFeature HP:0008200 biolink:PhenotypicFeature HP:0008283 biolink:PhenotypicFeature HP:0010534 biolink:PhenotypicFeature HP:0010832 biolink:PhenotypicFeature HP:0011446 biolink:PhenotypicFeature HP:0012051 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100631 biolink:PhenotypicFeature HP:0100634 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature Orphanet:100070 biolink:Disease Progressive non-fluent aphasia HP:0000474 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000711 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000751 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002145 biolink:PhenotypicFeature HP:0002185 biolink:PhenotypicFeature HP:0002186 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002366 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002427 biolink:PhenotypicFeature HP:0002446 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0006892 biolink:PhenotypicFeature HP:0006977 biolink:PhenotypicFeature HP:0007112 biolink:PhenotypicFeature HP:0010523 biolink:PhenotypicFeature HP:0010526 biolink:PhenotypicFeature HP:0011204 biolink:PhenotypicFeature HP:0030223 biolink:PhenotypicFeature HP:0012658 biolink:PhenotypicFeature HP:0030391 biolink:PhenotypicFeature HP:0030692 biolink:PhenotypicFeature HP:0100256 biolink:PhenotypicFeature HP:0100315 biolink:PhenotypicFeature Orphanet:293978 biolink:Disease Deficiency in anterior pituitary function-variable immunodeficiency syndrome HP:0000403 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0008220 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001325 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001973 biolink:PhenotypicFeature HP:0001988 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0002837 biolink:PhenotypicFeature HP:0005365 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0002920 biolink:PhenotypicFeature HP:0003765 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0005364 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0007418 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0011108 biolink:PhenotypicFeature HP:0011735 biolink:PhenotypicFeature HP:0012140 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012504 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0030349 biolink:PhenotypicFeature HP:0030353 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature HP:0100776 biolink:PhenotypicFeature HP:0100803 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:363618 biolink:Disease LMNA-related cardiocutaneous progeria syndrome HP:0000561 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001714 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0002223 biolink:PhenotypicFeature HP:0002289 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0004382 biolink:PhenotypicFeature HP:0004414 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0002616 biolink:PhenotypicFeature HP:0004929 biolink:PhenotypicFeature HP:0006739 biolink:PhenotypicFeature HP:0006766 biolink:PhenotypicFeature HP:0011040 biolink:PhenotypicFeature HP:0012397 biolink:PhenotypicFeature HP:0030445 biolink:PhenotypicFeature HP:0100324 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0100678 biolink:PhenotypicFeature Orphanet:275864 biolink:Disease Behavioral variant of frontotemporal dementia HP:0000474 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000710 biolink:PhenotypicFeature HP:0000711 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000719 biolink:PhenotypicFeature HP:0000723 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000734 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0000751 biolink:PhenotypicFeature HP:0000757 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002145 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002371 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0002442 biolink:PhenotypicFeature HP:0002446 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0006892 biolink:PhenotypicFeature HP:0010522 biolink:PhenotypicFeature HP:0010526 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature HP:0011204 biolink:PhenotypicFeature HP:0030212 biolink:PhenotypicFeature HP:0030213 biolink:PhenotypicFeature HP:0030223 biolink:PhenotypicFeature HP:0012658 biolink:PhenotypicFeature HP:0012671 biolink:PhenotypicFeature Orphanet:276556 biolink:Disease Hyperinsulinism due to UCP2 deficiency HP:0000825 biolink:PhenotypicFeature HP:0001985 biolink:PhenotypicFeature HP:0001988 biolink:PhenotypicFeature HP:0012051 biolink:PhenotypicFeature HP:0030796 biolink:PhenotypicFeature HP:0031084 biolink:PhenotypicFeature HP:0040299 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001069 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0012759 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001325 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002173 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0031224 biolink:PhenotypicFeature Orphanet:276608 biolink:Disease Non-insulinoma pancreatogenous hypoglycemia syndrome HP:0000713 biolink:PhenotypicFeature HP:0000825 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001985 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0002344 biolink:PhenotypicFeature HP:0003162 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0004324 biolink:PhenotypicFeature HP:0004510 biolink:PhenotypicFeature HP:0012051 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:329249 biolink:Disease Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency HP:0000735 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0008763 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003074 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature Orphanet:324575 biolink:Disease Hyperinsulinism due to HNF1A deficiency HP:0000825 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001998 biolink:PhenotypicFeature HP:0030796 biolink:PhenotypicFeature HP:0031084 biolink:PhenotypicFeature HP:0040299 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001069 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0001985 biolink:PhenotypicFeature HP:0002173 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0003162 biolink:PhenotypicFeature HP:0004904 biolink:PhenotypicFeature HP:0012051 biolink:PhenotypicFeature HP:0012759 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001325 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012734 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature Orphanet:48 biolink:Disease Congenital bilateral absence of vas deferens HP:0012210 biolink:PhenotypicFeature HP:0000798 biolink:PhenotypicFeature HP:0003251 biolink:PhenotypicFeature HP:0011962 biolink:PhenotypicFeature HP:0012873 biolink:PhenotypicFeature Orphanet:369873 biolink:Disease Obesity due to SIM1 deficiency HP:0000729 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001952 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0005307 biolink:PhenotypicFeature HP:0100503 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0012339 biolink:PhenotypicFeature Orphanet:36382 biolink:Disease Familial cervical artery dissection HP:0000819 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0001065 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002138 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0003119 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0003549 biolink:PhenotypicFeature HP:0004944 biolink:PhenotypicFeature HP:0004968 biolink:PhenotypicFeature HP:0005302 biolink:PhenotypicFeature HP:0005313 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0012158 biolink:PhenotypicFeature HP:0012163 biolink:PhenotypicFeature Orphanet:412 biolink:Disease Dysbetalipoproteinemia HP:0000799 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0001084 biolink:PhenotypicFeature HP:0001114 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0001735 biolink:PhenotypicFeature HP:0001997 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002635 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003141 biolink:PhenotypicFeature HP:0003233 biolink:PhenotypicFeature HP:0004943 biolink:PhenotypicFeature HP:0004950 biolink:PhenotypicFeature HP:0005181 biolink:PhenotypicFeature HP:0005299 biolink:PhenotypicFeature HP:0010874 biolink:PhenotypicFeature HP:0012397 biolink:PhenotypicFeature Orphanet:404 biolink:Disease Familial hyperaldosteronism type II HP:0000822 biolink:PhenotypicFeature HP:0011740 biolink:PhenotypicFeature HP:0040084 biolink:PhenotypicFeature HP:0011746 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0008221 biolink:PhenotypicFeature HP:0200114 biolink:PhenotypicFeature HP:0011739 biolink:PhenotypicFeature Orphanet:226316 biolink:Disease Genetic transient congenital hypothyroidism HP:0000853 biolink:PhenotypicFeature HP:0002925 biolink:PhenotypicFeature HP:0008263 biolink:PhenotypicFeature HP:0025484 biolink:PhenotypicFeature HP:0031507 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0001070 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001615 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0011437 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0031169 biolink:PhenotypicFeature HP:0031221 biolink:PhenotypicFeature HP:0100786 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0005990 biolink:PhenotypicFeature Orphanet:309108 biolink:Disease Pancreatic colipase deficiency HP:0001081 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001738 biolink:PhenotypicFeature HP:0001889 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002570 biolink:PhenotypicFeature HP:0002630 biolink:PhenotypicFeature Orphanet:209902 biolink:Disease Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HP:0001396 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001403 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001677 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003141 biolink:PhenotypicFeature HP:0004943 biolink:PhenotypicFeature HP:0004929 biolink:PhenotypicFeature HP:0006573 biolink:PhenotypicFeature HP:0008372 biolink:PhenotypicFeature HP:0011980 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012397 biolink:PhenotypicFeature HP:0100514 biolink:PhenotypicFeature Orphanet:97290 biolink:Disease Familial papillary thyroid carcinoma with renal papillary neoplasia HP:0000853 biolink:PhenotypicFeature HP:0002730 biolink:PhenotypicFeature HP:0002733 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002895 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0003003 biolink:PhenotypicFeature HP:0005994 biolink:PhenotypicFeature HP:0006528 biolink:PhenotypicFeature HP:0006735 biolink:PhenotypicFeature HP:0006766 biolink:PhenotypicFeature HP:0011798 biolink:PhenotypicFeature HP:0012288 biolink:PhenotypicFeature HP:3000037 biolink:PhenotypicFeature Orphanet:229 biolink:Disease Familial aortic dissection HP:0000965 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001677 biolink:PhenotypicFeature HP:0002631 biolink:PhenotypicFeature HP:0002647 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0004933 biolink:PhenotypicFeature HP:0004944 biolink:PhenotypicFeature HP:0004954 biolink:PhenotypicFeature HP:0005162 biolink:PhenotypicFeature HP:0005296 biolink:PhenotypicFeature HP:0005309 biolink:PhenotypicFeature HP:0005315 biolink:PhenotypicFeature HP:0012163 biolink:PhenotypicFeature HP:0012499 biolink:PhenotypicFeature HP:0012763 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0200146 biolink:PhenotypicFeature Orphanet:66518 biolink:Disease Short fifth metacarpals-insulin resistance syndrome HP:0000842 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0004444 biolink:PhenotypicFeature HP:0010047 biolink:PhenotypicFeature HP:0001742 biolink:PhenotypicFeature Orphanet:319487 biolink:Disease Familial papillary or follicular thyroid carcinoma HP:0000853 biolink:PhenotypicFeature HP:0002176 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002730 biolink:PhenotypicFeature HP:0002733 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002895 biolink:PhenotypicFeature HP:0003003 biolink:PhenotypicFeature HP:0005994 biolink:PhenotypicFeature HP:0006528 biolink:PhenotypicFeature HP:0006731 biolink:PhenotypicFeature HP:0006766 biolink:PhenotypicFeature HP:0012288 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:3000037 biolink:PhenotypicFeature Orphanet:314811 biolink:Disease Short stature due to GHSR deficiency HP:0000823 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001946 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0004323 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0030353 biolink:PhenotypicFeature Orphanet:314802 biolink:Disease Short stature due to partial GHR deficiency HP:0000823 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0030353 biolink:PhenotypicFeature Orphanet:251937 biolink:Disease Gangliocytoma HP:0003005 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0010302 biolink:PhenotypicFeature HP:0012377 biolink:PhenotypicFeature HP:0100006 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0011749 biolink:PhenotypicFeature HP:0011761 biolink:PhenotypicFeature HP:0012503 biolink:PhenotypicFeature HP:0030018 biolink:PhenotypicFeature HP:0040086 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0006767 biolink:PhenotypicFeature Orphanet:677 biolink:Disease Pancreatoblastoma HP:0001824 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0005213 biolink:PhenotypicFeature HP:0005984 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0002733 biolink:PhenotypicFeature Orphanet:2386 biolink:Disease Leukoencephalopathy-palmoplantar keratoderma syndrome HP:0000972 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0002200 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0010845 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0100252 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0003380 biolink:PhenotypicFeature Orphanet:981 biolink:Disease Internal carotid absence HP:0002138 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0004944 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0100702 biolink:PhenotypicFeature Orphanet:284227 biolink:Disease TEMPI syndrome HP:0000077 biolink:PhenotypicFeature HP:0001009 biolink:PhenotypicFeature HP:0001899 biolink:PhenotypicFeature HP:0003237 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0004930 biolink:PhenotypicFeature HP:0011920 biolink:PhenotypicFeature HP:0001901 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0001041 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature Orphanet:251623 biolink:Disease Pituicytoma HP:0011752 biolink:PhenotypicFeature HP:0011754 biolink:PhenotypicFeature HP:0012503 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0008214 biolink:PhenotypicFeature HP:0008230 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature HP:0011043 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030018 biolink:PhenotypicFeature HP:0040075 biolink:PhenotypicFeature HP:0000863 biolink:PhenotypicFeature HP:0100829 biolink:PhenotypicFeature Orphanet:280779 biolink:Disease Cutaneous collagenous vasculopathy HP:0007489 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0007394 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011276 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature Orphanet:79102 biolink:Disease Thyrotoxic periodic paralysis HP:0000836 biolink:PhenotypicFeature HP:0008153 biolink:PhenotypicFeature HP:0012726 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002445 biolink:PhenotypicFeature HP:0002917 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0003752 biolink:PhenotypicFeature HP:0004303 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0008285 biolink:PhenotypicFeature HP:0011784 biolink:PhenotypicFeature HP:0011785 biolink:PhenotypicFeature HP:0011786 biolink:PhenotypicFeature HP:0012240 biolink:PhenotypicFeature HP:0012364 biolink:PhenotypicFeature HP:0100647 biolink:PhenotypicFeature HP:0000016 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0009020 biolink:PhenotypicFeature HP:0011998 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0001663 biolink:PhenotypicFeature HP:0003694 biolink:PhenotypicFeature HP:0005165 biolink:PhenotypicFeature HP:0011706 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002203 biolink:PhenotypicFeature HP:0002486 biolink:PhenotypicFeature HP:0003134 biolink:PhenotypicFeature HP:0006670 biolink:PhenotypicFeature Orphanet:3448 biolink:Disease Weaver-Williams syndrome HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:482 biolink:Disease Kimura disease HP:0001880 biolink:PhenotypicFeature HP:0002729 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0010286 biolink:PhenotypicFeature Orphanet:95494 biolink:Disease Combined pituitary hormone deficiencies, genetic forms HP:0040075 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002920 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0009888 biolink:PhenotypicFeature HP:0010311 biolink:PhenotypicFeature HP:0010626 biolink:PhenotypicFeature HP:0010627 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0040086 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000839 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0005625 biolink:PhenotypicFeature HP:0008187 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001331 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0004637 biolink:PhenotypicFeature HP:0008501 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature HP:0011297 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011755 biolink:PhenotypicFeature HP:0012731 biolink:PhenotypicFeature HP:0100842 biolink:PhenotypicFeature Orphanet:52901 biolink:Disease Isolated follicle stimulating hormone deficiency HP:0000786 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000026 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000134 biolink:PhenotypicFeature HP:0008213 biolink:PhenotypicFeature HP:0002215 biolink:PhenotypicFeature HP:0002225 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003335 biolink:PhenotypicFeature HP:0008214 biolink:PhenotypicFeature HP:0008230 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0012569 biolink:PhenotypicFeature HP:0000027 biolink:PhenotypicFeature HP:0000029 biolink:PhenotypicFeature HP:0000798 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0010791 biolink:PhenotypicFeature HP:0012814 biolink:PhenotypicFeature HP:0012864 biolink:PhenotypicFeature HP:0030018 biolink:PhenotypicFeature HP:0000458 biolink:PhenotypicFeature Orphanet:2070 biolink:Disease Eosinophilic gastroenteritis HP:0001880 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002570 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003193 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0500014 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001047 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002243 biolink:PhenotypicFeature HP:0002573 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature Orphanet:922 biolink:Disease Familial nasal acilia HP:0002110 biolink:PhenotypicFeature HP:0002257 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0005938 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0011109 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature Orphanet:313906 biolink:Disease Congenital pancreatic cyst HP:0000952 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature Orphanet:140936 biolink:Disease Lelis syndrome HP:0000956 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0000153 biolink:PhenotypicFeature HP:0000221 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000972 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0010802 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0005338 biolink:PhenotypicFeature HP:0007646 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0011367 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:90695 biolink:Disease Non-acquired panhypopituitarism HP:0040075 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002920 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0009888 biolink:PhenotypicFeature HP:0010311 biolink:PhenotypicFeature HP:0010627 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0040086 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000839 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0005625 biolink:PhenotypicFeature HP:0008187 biolink:PhenotypicFeature HP:0011755 biolink:PhenotypicFeature HP:0012731 biolink:PhenotypicFeature Orphanet:2183 biolink:Disease Hydrocephalus-obesity-hypogonadism syndrome HP:0000238 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0010044 biolink:PhenotypicFeature HP:0000027 biolink:PhenotypicFeature HP:0000864 biolink:PhenotypicFeature HP:0002550 biolink:PhenotypicFeature HP:0007464 biolink:PhenotypicFeature Orphanet:901 biolink:Disease Wells syndrome HP:0000989 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature Orphanet:838 biolink:Disease Susac syndrome HP:0002315 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0000751 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0100851 biolink:PhenotypicFeature Orphanet:1423 biolink:Disease Lethal recessive chondrodysplasia HP:0000774 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003950 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0005789 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature Orphanet:329475 biolink:Disease Spastic paraplegia-Paget disease of bone syndrome HP:0001258 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003445 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0004563 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature HP:0001308 biolink:PhenotypicFeature HP:0007289 biolink:PhenotypicFeature Orphanet:3400 biolink:Disease Aorto-ventricular tunnel HP:0011627 biolink:PhenotypicFeature HP:0001714 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0002616 biolink:PhenotypicFeature HP:0006704 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature Orphanet:73256 biolink:Disease Central neurocytoma HP:0000238 biolink:PhenotypicFeature HP:0010576 biolink:PhenotypicFeature HP:0025354 biolink:PhenotypicFeature HP:0030047 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0008000 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007021 biolink:PhenotypicFeature Orphanet:69736 biolink:Disease Bilateral acute depigmentation of the iris HP:0007990 biolink:PhenotypicFeature HP:0008034 biolink:PhenotypicFeature HP:0000593 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0011488 biolink:PhenotypicFeature HP:0012372 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0012631 biolink:PhenotypicFeature HP:0012634 biolink:PhenotypicFeature Orphanet:50918 biolink:Disease Kikuchi-Fujimoto disease HP:0025289 biolink:PhenotypicFeature HP:0000155 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002733 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011134 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0025300 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0030166 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0200029 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature HP:0000464 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0011801 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0025475 biolink:PhenotypicFeature HP:0100827 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0008940 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature Orphanet:1467 biolink:Disease Cogan syndrome HP:0000360 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0001751 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001894 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0100533 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0005310 biolink:PhenotypicFeature HP:0100532 biolink:PhenotypicFeature HP:0100534 biolink:PhenotypicFeature Orphanet:223 biolink:Disease Nephrogenic diabetes insipidus HP:0004322 biolink:PhenotypicFeature HP:0011106 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0010677 biolink:PhenotypicFeature HP:0009806 biolink:PhenotypicFeature HP:0003158 biolink:PhenotypicFeature HP:0003228 biolink:PhenotypicFeature HP:0004906 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0000009 biolink:PhenotypicFeature HP:0000072 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature Orphanet:91348 biolink:Disease Functioning gonadotropic adenoma HP:0011759 biolink:PhenotypicFeature HP:0000140 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0000830 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030018 biolink:PhenotypicFeature HP:0030088 biolink:PhenotypicFeature HP:0040086 biolink:PhenotypicFeature HP:0000138 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000798 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0000863 biolink:PhenotypicFeature HP:0000871 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0002050 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002625 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0008236 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature HP:0008675 biolink:PhenotypicFeature HP:0009888 biolink:PhenotypicFeature HP:0011748 biolink:PhenotypicFeature HP:0012246 biolink:PhenotypicFeature HP:0100829 biolink:PhenotypicFeature Orphanet:26137 biolink:Disease Juvenile temporal arteritis HP:0001974 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0003193 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature Orphanet:100084 biolink:Disease Middle ear neuroendocrine tumor HP:0100570 biolink:PhenotypicFeature HP:0100634 biolink:PhenotypicFeature HP:0040119 biolink:PhenotypicFeature HP:0040090 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000372 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0002730 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature Orphanet:403 biolink:Disease Familial hyperaldosteronism type I HP:0000822 biolink:PhenotypicFeature HP:0011739 biolink:PhenotypicFeature HP:0008221 biolink:PhenotypicFeature HP:0040084 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0011410 biolink:PhenotypicFeature HP:0011746 biolink:PhenotypicFeature HP:0100602 biolink:PhenotypicFeature Orphanet:427 biolink:Disease Familial hypoaldosteronism HP:0000127 biolink:PhenotypicFeature HP:0000848 biolink:PhenotypicFeature HP:0000846 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0004319 biolink:PhenotypicFeature HP:0011106 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001278 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0001954 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002049 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012364 biolink:PhenotypicFeature Orphanet:369929 biolink:Disease Primary hyperaldosteronism-seizures-neurological abnormalities syndrome HP:0000822 biolink:PhenotypicFeature HP:0000859 biolink:PhenotypicFeature HP:0040084 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001714 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002305 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011166 biolink:PhenotypicFeature HP:0011410 biolink:PhenotypicFeature HP:0011706 biolink:PhenotypicFeature HP:0100285 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0200114 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0008221 biolink:PhenotypicFeature HP:0011739 biolink:PhenotypicFeature Orphanet:83453 biolink:Disease Vulvovaginal gingival syndrome HP:0000230 biolink:PhenotypicFeature HP:0000055 biolink:PhenotypicFeature HP:0000155 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001036 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011118 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0012537 biolink:PhenotypicFeature HP:0025092 biolink:PhenotypicFeature HP:0100725 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0001807 biolink:PhenotypicFeature Orphanet:84142 biolink:Disease Isaacs syndrome HP:0000975 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0002411 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0010546 biolink:PhenotypicFeature HP:0100288 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature Orphanet:35125 biolink:Disease Epidermal nevus syndrome HP:0003764 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0002176 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0006827 biolink:PhenotypicFeature HP:0007199 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0002944 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0009077 biolink:PhenotypicFeature HP:0010302 biolink:PhenotypicFeature HP:0012032 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0000113 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001724 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002859 biolink:PhenotypicFeature HP:0100512 biolink:PhenotypicFeature Orphanet:33111 biolink:Disease Granulomatous slack skin HP:0000973 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012189 biolink:PhenotypicFeature HP:0030053 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0002733 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature Orphanet:95409 biolink:Disease Acute adrenal insufficiency HP:0008207 biolink:PhenotypicFeature HP:0008220 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003154 biolink:PhenotypicFeature HP:0011106 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000127 biolink:PhenotypicFeature HP:0000848 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001278 biolink:PhenotypicFeature HP:0001897 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0004319 biolink:PhenotypicFeature HP:0005976 biolink:PhenotypicFeature HP:0008226 biolink:PhenotypicFeature HP:0011948 biolink:PhenotypicFeature HP:0012364 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000835 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0002215 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0030018 biolink:PhenotypicFeature HP:0030083 biolink:PhenotypicFeature Orphanet:85138 biolink:Disease Addison disease HP:0008207 biolink:PhenotypicFeature HP:0008220 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003154 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000127 biolink:PhenotypicFeature HP:0000848 biolink:PhenotypicFeature HP:0001897 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0004319 biolink:PhenotypicFeature HP:0005976 biolink:PhenotypicFeature HP:0008226 biolink:PhenotypicFeature HP:0012364 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000829 biolink:PhenotypicFeature HP:0000835 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001278 biolink:PhenotypicFeature HP:0001587 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002215 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002608 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0006462 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0010512 biolink:PhenotypicFeature HP:0030018 biolink:PhenotypicFeature HP:0030083 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature HP:0004860 biolink:PhenotypicFeature HP:0008720 biolink:PhenotypicFeature HP:0100522 biolink:PhenotypicFeature Orphanet:79086 biolink:Disease Acquired generalized lipodystrophy HP:0009064 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0000831 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003119 biolink:PhenotypicFeature HP:0003707 biolink:PhenotypicFeature HP:0005328 biolink:PhenotypicFeature HP:0011025 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001735 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0005339 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0012490 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0009592 biolink:PhenotypicFeature HP:0012064 biolink:PhenotypicFeature Orphanet:231625 biolink:Disease Adrenocortical carcinoma with pure aldosterone hypersecretion HP:0000822 biolink:PhenotypicFeature HP:0100631 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001578 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0003351 biolink:PhenotypicFeature HP:0011740 biolink:PhenotypicFeature HP:0200114 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0003081 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0005135 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature Orphanet:231632 biolink:Disease Ectopic aldosterone-producing tumor HP:0000822 biolink:PhenotypicFeature HP:0003351 biolink:PhenotypicFeature HP:0011740 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0006735 biolink:PhenotypicFeature HP:0100615 biolink:PhenotypicFeature HP:0200114 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0008256 biolink:PhenotypicFeature Orphanet:251274 biolink:Disease Familial hyperaldosteronism type III HP:0000822 biolink:PhenotypicFeature HP:0040084 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0008221 biolink:PhenotypicFeature HP:0011740 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0200114 biolink:PhenotypicFeature HP:0011739 biolink:PhenotypicFeature Orphanet:90044 biolink:Disease Familial pseudohyperkalemia HP:0002153 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0004446 biolink:PhenotypicFeature HP:0001923 biolink:PhenotypicFeature HP:0005518 biolink:PhenotypicFeature HP:0004802 biolink:PhenotypicFeature Orphanet:231580 biolink:Disease Primary unilateral adrenal hyperplasia HP:0000822 biolink:PhenotypicFeature HP:0003351 biolink:PhenotypicFeature HP:0011740 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0003081 biolink:PhenotypicFeature HP:0008221 biolink:PhenotypicFeature HP:0200114 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature Orphanet:54251 biolink:Disease Corticosteroid-sensitive aseptic abscess syndrome HP:0001945 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002733 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0011897 biolink:PhenotypicFeature HP:0100523 biolink:PhenotypicFeature HP:0000035 biolink:PhenotypicFeature HP:0001732 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0030049 biolink:PhenotypicFeature HP:0100763 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature Orphanet:54028 biolink:Disease Plummer-Vinson syndrome HP:0001891 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0004840 biolink:PhenotypicFeature HP:0012343 biolink:PhenotypicFeature HP:0100594 biolink:PhenotypicFeature HP:0000206 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0001598 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0010284 biolink:PhenotypicFeature HP:0012473 biolink:PhenotypicFeature HP:0025062 biolink:PhenotypicFeature HP:0100825 biolink:PhenotypicFeature Orphanet:86909 biolink:Disease Myoclonic epilepsy of infancy HP:0001256 biolink:PhenotypicFeature HP:0001326 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002275 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0007057 biolink:PhenotypicFeature HP:0001112 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0007207 biolink:PhenotypicFeature HP:0010862 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature Orphanet:99880 biolink:Disease Hyperparathyroidism-jaw tumor syndrome HP:0002897 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0008200 biolink:PhenotypicFeature HP:0002148 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0003165 biolink:PhenotypicFeature HP:0011766 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000131 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0008250 biolink:PhenotypicFeature HP:0010614 biolink:PhenotypicFeature HP:0012232 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000934 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0004398 biolink:PhenotypicFeature HP:0008696 biolink:PhenotypicFeature HP:0200025 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature HP:0002890 biolink:PhenotypicFeature HP:0006725 biolink:PhenotypicFeature HP:0010788 biolink:PhenotypicFeature HP:0012032 biolink:PhenotypicFeature Orphanet:786 biolink:Disease Generalized glucocorticoid resistance syndrome HP:0001297 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0002924 biolink:PhenotypicFeature HP:0003118 biolink:PhenotypicFeature HP:0003154 biolink:PhenotypicFeature HP:0012030 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0008221 biolink:PhenotypicFeature HP:0030087 biolink:PhenotypicFeature HP:0200114 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000798 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0001578 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002292 biolink:PhenotypicFeature HP:0010458 biolink:PhenotypicFeature Orphanet:95707 biolink:Disease Idiopathic isolated micropenis HP:0000054 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature Orphanet:199296 biolink:Disease Congenital isolated ACTH deficiency HP:0001998 biolink:PhenotypicFeature HP:0008163 biolink:PhenotypicFeature HP:0011735 biolink:PhenotypicFeature HP:0000835 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0002173 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature Orphanet:95459 biolink:Disease Congenital tricuspid stenosis HP:0010446 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0001370 biolink:PhenotypicFeature HP:0006689 biolink:PhenotypicFeature HP:0100570 biolink:PhenotypicFeature Orphanet:91135 biolink:Disease Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency HP:0000973 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0001102 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002621 biolink:PhenotypicFeature HP:0004944 biolink:PhenotypicFeature Orphanet:96183 biolink:Disease Maternal uniparental disomy of chromosome 9 HP:0000276 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001795 biolink:PhenotypicFeature HP:0002546 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0003070 biolink:PhenotypicFeature HP:0003089 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0040188 biolink:PhenotypicFeature HP:0000851 biolink:PhenotypicFeature HP:0007973 biolink:PhenotypicFeature Orphanet:96190 biolink:Disease Paternal uniparental disomy of chromosome 5 HP:0000075 biolink:PhenotypicFeature HP:0001090 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001684 biolink:PhenotypicFeature HP:0002654 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0004991 biolink:PhenotypicFeature HP:0006385 biolink:PhenotypicFeature HP:0010593 biolink:PhenotypicFeature HP:0011327 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature Orphanet:300298 biolink:Disease Severe congenital hypochromic anemia with ringed sideroblasts HP:0001896 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0003281 biolink:PhenotypicFeature HP:0012464 biolink:PhenotypicFeature HP:0000027 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000864 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003452 biolink:PhenotypicFeature HP:0004823 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012465 biolink:PhenotypicFeature HP:0025066 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000846 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0012134 biolink:PhenotypicFeature Orphanet:98870 biolink:Disease Congenital dyserythropoietic anemia type III HP:0001903 biolink:PhenotypicFeature HP:0004447 biolink:PhenotypicFeature HP:0011273 biolink:PhenotypicFeature HP:0001877 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0003452 biolink:PhenotypicFeature HP:0005518 biolink:PhenotypicFeature HP:0012130 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0025035 biolink:PhenotypicFeature HP:0025196 biolink:PhenotypicFeature HP:0025354 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0002249 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0011891 biolink:PhenotypicFeature HP:0030140 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:1449 biolink:Disease Ring chromosome 7 syndrome HP:0000047 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000385 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000932 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004425 biolink:PhenotypicFeature HP:0007687 biolink:PhenotypicFeature HP:0008846 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0009899 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001238 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0009933 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0000034 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000329 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0004619 biolink:PhenotypicFeature HP:0007481 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001696 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0009099 biolink:PhenotypicFeature HP:0009237 biolink:PhenotypicFeature HP:0009779 biolink:PhenotypicFeature Orphanet:79 biolink:Disease Congenital alpha2-antiplasmin deficiency HP:0001934 biolink:PhenotypicFeature HP:0005261 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0012151 biolink:PhenotypicFeature HP:0012233 biolink:PhenotypicFeature HP:0040247 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0011884 biolink:PhenotypicFeature Orphanet:71277 biolink:Disease Classic glucose transporter type 1 deficiency syndrome HP:0000253 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001877 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0011972 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0007034 biolink:PhenotypicFeature HP:0007308 biolink:PhenotypicFeature HP:0007704 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002186 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002871 biolink:PhenotypicFeature Orphanet:2608 biolink:Disease N syndrome HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000485 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0005517 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0012374 biolink:PhenotypicFeature Orphanet:251912 biolink:Disease Pineocytoma HP:0000238 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0002131 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0030531 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature Orphanet:251915 biolink:Disease Papillary tumor of the pineal region HP:0000238 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0002131 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0030531 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature Orphanet:329 biolink:Disease Congenital factor XI deficiency HP:0001892 biolink:PhenotypicFeature HP:0001929 biolink:PhenotypicFeature HP:0003645 biolink:PhenotypicFeature HP:0006298 biolink:PhenotypicFeature HP:0010989 biolink:PhenotypicFeature HP:0000132 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0005261 biolink:PhenotypicFeature Orphanet:289601 biolink:Disease Hereditary arterial and articular multiple calcification syndrome HP:0011025 biolink:PhenotypicFeature HP:0012455 biolink:PhenotypicFeature HP:0025015 biolink:PhenotypicFeature HP:0025324 biolink:PhenotypicFeature HP:0012101 biolink:PhenotypicFeature HP:0001717 biolink:PhenotypicFeature HP:0005116 biolink:PhenotypicFeature Orphanet:766 biolink:Disease Hemolytic anemia due to red cell pyruvate kinase deficiency HP:0001744 biolink:PhenotypicFeature HP:0001877 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001923 biolink:PhenotypicFeature HP:0004870 biolink:PhenotypicFeature HP:0008282 biolink:PhenotypicFeature HP:0025109 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0003281 biolink:PhenotypicFeature HP:0003452 biolink:PhenotypicFeature HP:0004804 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0004447 biolink:PhenotypicFeature HP:0011273 biolink:PhenotypicFeature HP:0012463 biolink:PhenotypicFeature Orphanet:327 biolink:Disease Congenital factor VII deficiency HP:0002170 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0000132 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0004846 biolink:PhenotypicFeature HP:0005261 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0000138 biolink:PhenotypicFeature HP:0010881 biolink:PhenotypicFeature HP:0011891 biolink:PhenotypicFeature Orphanet:221061 biolink:Disease Familial cerebral cavernous malformation HP:0001250 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002858 biolink:PhenotypicFeature HP:0012748 biolink:PhenotypicFeature HP:0012749 biolink:PhenotypicFeature HP:0030430 biolink:PhenotypicFeature HP:0002572 biolink:PhenotypicFeature HP:0007872 biolink:PhenotypicFeature HP:0011276 biolink:PhenotypicFeature HP:0011513 biolink:PhenotypicFeature HP:0012721 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100561 biolink:PhenotypicFeature Orphanet:93941 biolink:Disease Laryngotracheoesophageal cleft type 4 HP:0002093 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001743 biolink:PhenotypicFeature HP:0002366 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0002777 biolink:PhenotypicFeature HP:0011100 biolink:PhenotypicFeature HP:0100016 biolink:PhenotypicFeature Orphanet:402075 biolink:Disease Familial bicuspid aortic valve HP:0001647 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0004380 biolink:PhenotypicFeature HP:0004962 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0005113 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0004933 biolink:PhenotypicFeature HP:0011103 biolink:PhenotypicFeature Orphanet:424019 biolink:Disease Squamous cell carcinoma of the anal canal HP:0030438 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002584 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0012740 biolink:PhenotypicFeature HP:0002025 biolink:PhenotypicFeature HP:0002035 biolink:PhenotypicFeature HP:0002896 biolink:PhenotypicFeature HP:0010622 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature HP:0100743 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:424016 biolink:Disease Adenocarcinoma of the anal canal HP:0030439 biolink:PhenotypicFeature HP:0002025 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002584 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002896 biolink:PhenotypicFeature HP:0010622 biolink:PhenotypicFeature HP:0012432 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature HP:0002035 biolink:PhenotypicFeature HP:0100743 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:156728 biolink:Disease Spondyloepimetaphyseal dysplasia, matrilin-3 type HP:0002979 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0001377 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0003037 biolink:PhenotypicFeature HP:0005257 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature Orphanet:85184 biolink:Disease Craniometadiaphyseal dysplasia, wormian bone type HP:0000218 biolink:PhenotypicFeature HP:0000242 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000885 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000940 biolink:PhenotypicFeature HP:0001248 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0002212 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002703 biolink:PhenotypicFeature HP:0002753 biolink:PhenotypicFeature HP:0005446 biolink:PhenotypicFeature HP:0006391 biolink:PhenotypicFeature HP:0006429 biolink:PhenotypicFeature HP:0008438 biolink:PhenotypicFeature HP:0009911 biolink:PhenotypicFeature HP:0010539 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature Orphanet:163649 biolink:Disease Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome HP:0000248 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001238 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002693 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002942 biolink:PhenotypicFeature HP:0003071 biolink:PhenotypicFeature HP:0003180 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003300 biolink:PhenotypicFeature HP:0003366 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006454 biolink:PhenotypicFeature HP:0008783 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0011326 biolink:PhenotypicFeature HP:0011849 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0007894 biolink:PhenotypicFeature HP:0011329 biolink:PhenotypicFeature HP:0100558 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0002879 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0010471 biolink:PhenotypicFeature Orphanet:163654 biolink:Disease Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome HP:0000028 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000215 biolink:PhenotypicFeature HP:0000306 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000475 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001608 biolink:PhenotypicFeature HP:0001832 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0002212 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004634 biolink:PhenotypicFeature HP:0005069 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005622 biolink:PhenotypicFeature HP:0006394 biolink:PhenotypicFeature HP:0007665 biolink:PhenotypicFeature HP:0008496 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008839 biolink:PhenotypicFeature HP:0009103 biolink:PhenotypicFeature HP:0009937 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0011829 biolink:PhenotypicFeature HP:0100625 biolink:PhenotypicFeature Orphanet:51083 biolink:Disease Familial short QT syndrome HP:0012232 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0005110 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0001663 biolink:PhenotypicFeature HP:0001678 biolink:PhenotypicFeature HP:0004308 biolink:PhenotypicFeature Orphanet:2786 biolink:Disease Osteoporosis-oculocutaneous hypopigmentation syndrome HP:0000479 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001022 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature Orphanet:93598 biolink:Disease Primary hyperoxaluria type 1 HP:0100518 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000805 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0003159 biolink:PhenotypicFeature HP:0003761 biolink:PhenotypicFeature HP:0011021 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0012213 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0002621 biolink:PhenotypicFeature Orphanet:2410 biolink:Disease Hypergonadotropic hypogonadism-cataract syndrome HP:0000518 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0008187 biolink:PhenotypicFeature HP:0008240 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature Orphanet:69744 biolink:Disease Circumscribed palmoplantar hypokeratosis HP:0001227 biolink:PhenotypicFeature HP:0010486 biolink:PhenotypicFeature HP:0011121 biolink:PhenotypicFeature HP:0100872 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature Orphanet:67043 biolink:Disease Amoebic keratitis HP:0000481 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0007856 biolink:PhenotypicFeature HP:0011495 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001089 biolink:PhenotypicFeature HP:0004329 biolink:PhenotypicFeature HP:0012122 biolink:PhenotypicFeature HP:0012155 biolink:PhenotypicFeature HP:0100532 biolink:PhenotypicFeature HP:0100583 biolink:PhenotypicFeature HP:0000593 biolink:PhenotypicFeature HP:0012040 biolink:PhenotypicFeature HP:0012804 biolink:PhenotypicFeature Orphanet:54057 biolink:Disease Thrombotic thrombocytopenic purpura HP:0001873 biolink:PhenotypicFeature HP:0001923 biolink:PhenotypicFeature HP:0001937 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0045040 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0012101 biolink:PhenotypicFeature Orphanet:2237 biolink:Disease Hypoparathyroidism-sensorineural deafness-renal disease syndrome HP:0000110 biolink:PhenotypicFeature HP:0000408 biolink:PhenotypicFeature HP:0000829 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000113 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000860 biolink:PhenotypicFeature HP:0002199 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001153 biolink:PhenotypicFeature HP:0003762 biolink:PhenotypicFeature HP:0000148 biolink:PhenotypicFeature HP:0000151 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0003765 biolink:PhenotypicFeature HP:0005402 biolink:PhenotypicFeature HP:0008850 biolink:PhenotypicFeature Orphanet:69125 biolink:Disease Anonychia with flexural pigmentation HP:0000444 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001798 biolink:PhenotypicFeature HP:0002293 biolink:PhenotypicFeature HP:0004404 biolink:PhenotypicFeature HP:0007471 biolink:PhenotypicFeature HP:0007502 biolink:PhenotypicFeature HP:0030503 biolink:PhenotypicFeature HP:0040211 biolink:PhenotypicFeature HP:0100872 biolink:PhenotypicFeature Orphanet:2235 biolink:Disease Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome HP:0000044 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000830 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003164 biolink:PhenotypicFeature HP:0003187 biolink:PhenotypicFeature HP:0008187 biolink:PhenotypicFeature HP:0008202 biolink:PhenotypicFeature HP:0008240 biolink:PhenotypicFeature HP:0008724 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature Orphanet:35122 biolink:Disease Congenital sucrase-isomaltase deficiency HP:0002014 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0011848 biolink:PhenotypicFeature Orphanet:90050 biolink:Disease Retinopathy of prematurity HP:0001518 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0008046 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0001103 biolink:PhenotypicFeature HP:0001136 biolink:PhenotypicFeature HP:0007902 biolink:PhenotypicFeature HP:0007917 biolink:PhenotypicFeature Orphanet:99940 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2F HP:0001315 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0003444 biolink:PhenotypicFeature HP:0003445 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0007289 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0009129 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature Orphanet:2764 biolink:Disease Osteochondritis dissecans HP:0001376 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0001367 biolink:PhenotypicFeature HP:0001377 biolink:PhenotypicFeature HP:0003184 biolink:PhenotypicFeature HP:0006376 biolink:PhenotypicFeature HP:0011843 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0009050 biolink:PhenotypicFeature Orphanet:85445 biolink:Disease AA amyloidosis HP:0004395 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0011830 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000846 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0001917 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0011034 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000105 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature Orphanet:70475 biolink:Disease Radiation proctitis HP:0002034 biolink:PhenotypicFeature HP:0002573 biolink:PhenotypicFeature HP:0002597 biolink:PhenotypicFeature HP:0003549 biolink:PhenotypicFeature HP:0004296 biolink:PhenotypicFeature HP:0005224 biolink:PhenotypicFeature HP:0025015 biolink:PhenotypicFeature HP:0100590 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0012089 biolink:PhenotypicFeature HP:0012702 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:98767 biolink:Disease Spinocerebellar ataxia type 11 HP:0000666 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0008003 biolink:PhenotypicFeature HP:0010544 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature Orphanet:98757 biolink:Disease Spinocerebellar ataxia type 3 HP:0000520 biolink:PhenotypicFeature HP:0000590 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0001605 biolink:PhenotypicFeature HP:0001751 biolink:PhenotypicFeature HP:0004370 biolink:PhenotypicFeature Orphanet:98759 biolink:Disease Spinocerebellar ataxia type 17 HP:0001251 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0000643 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002529 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0007058 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007366 biolink:PhenotypicFeature HP:0012082 biolink:PhenotypicFeature HP:0002356 biolink:PhenotypicFeature Orphanet:98811 biolink:Disease Paroxysmal exertion-induced dyskinesia HP:0001266 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0007166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001304 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature Orphanet:96181 biolink:Disease Maternal uniparental disomy of chromosome 6 HP:0000023 biolink:PhenotypicFeature HP:0000034 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0003100 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002805 biolink:PhenotypicFeature HP:0008258 biolink:PhenotypicFeature HP:0008665 biolink:PhenotypicFeature HP:0030088 biolink:PhenotypicFeature Orphanet:251009 biolink:Disease Maternal uniparental disomy of chromosome 1 HP:0000319 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001476 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002191 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002813 biolink:PhenotypicFeature HP:0003139 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007272 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0009909 biolink:PhenotypicFeature HP:0010655 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature Orphanet:98766 biolink:Disease Spinocerebellar ataxia type 5 HP:0001272 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0002311 biolink:PhenotypicFeature Orphanet:96191 biolink:Disease Paternal uniparental disomy of chromosome 6 HP:0000028 biolink:PhenotypicFeature HP:0000065 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000237 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000363 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000586 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000857 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0001380 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0010866 biolink:PhenotypicFeature HP:0100767 biolink:PhenotypicFeature Orphanet:276280 biolink:Disease Hemihyperplasia-multiple lipomatosis syndrome HP:0001548 biolink:PhenotypicFeature HP:0004099 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature HP:0000034 biolink:PhenotypicFeature HP:0000105 biolink:PhenotypicFeature HP:0001012 biolink:PhenotypicFeature HP:0001051 biolink:PhenotypicFeature HP:0001829 biolink:PhenotypicFeature HP:0002624 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003764 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0010714 biolink:PhenotypicFeature HP:0012887 biolink:PhenotypicFeature HP:0040009 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100763 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature Orphanet:2457 biolink:Disease Mandibuloacral dysplasia HP:0000218 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000460 biolink:PhenotypicFeature HP:0000468 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0003635 biolink:PhenotypicFeature HP:0005781 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000685 biolink:PhenotypicFeature HP:0000831 biolink:PhenotypicFeature HP:0000833 biolink:PhenotypicFeature HP:0000894 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001090 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0001870 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003809 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0008993 biolink:PhenotypicFeature HP:0009003 biolink:PhenotypicFeature HP:0009839 biolink:PhenotypicFeature HP:0011334 biolink:PhenotypicFeature HP:0030781 biolink:PhenotypicFeature HP:0030809 biolink:PhenotypicFeature Orphanet:251004 biolink:Disease Paternal uniparental disomy of chromosome 1 HP:0000093 biolink:PhenotypicFeature HP:0000105 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000793 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000970 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0003138 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004802 biolink:PhenotypicFeature HP:0007021 biolink:PhenotypicFeature HP:0007272 biolink:PhenotypicFeature HP:0007641 biolink:PhenotypicFeature HP:0007754 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0012587 biolink:PhenotypicFeature HP:0030612 biolink:PhenotypicFeature Orphanet:96180 biolink:Disease Maternal uniparental disomy of chromosome 4 HP:0000510 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001146 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001877 biolink:PhenotypicFeature HP:0001927 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0002600 biolink:PhenotypicFeature HP:0002630 biolink:PhenotypicFeature HP:0003146 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003563 biolink:PhenotypicFeature HP:0003707 biolink:PhenotypicFeature HP:0003722 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0004395 biolink:PhenotypicFeature HP:0004905 biolink:PhenotypicFeature HP:0006785 biolink:PhenotypicFeature HP:0008181 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature HP:0010875 biolink:PhenotypicFeature HP:0011892 biolink:PhenotypicFeature HP:0011900 biolink:PhenotypicFeature HP:0100513 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature Orphanet:93600 biolink:Disease Primary hyperoxaluria type 3 HP:0000121 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0003110 biolink:PhenotypicFeature HP:0003159 biolink:PhenotypicFeature HP:0008672 biolink:PhenotypicFeature HP:0012211 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0100515 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature Orphanet:93599 biolink:Disease Primary hyperoxaluria type 2 HP:0000121 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0003159 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0006000 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature Orphanet:79299 biolink:Disease Hyperinsulinism due to glucokinase deficiency HP:0000825 biolink:PhenotypicFeature HP:0001985 biolink:PhenotypicFeature HP:0001988 biolink:PhenotypicFeature HP:0008283 biolink:PhenotypicFeature HP:0030794 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0002270 biolink:PhenotypicFeature HP:0012638 biolink:PhenotypicFeature Orphanet:439167 biolink:Disease Placental insufficiency HP:0100767 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0003508 biolink:PhenotypicFeature HP:0006266 biolink:PhenotypicFeature HP:0011403 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0003613 biolink:PhenotypicFeature HP:0012759 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0008071 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0100601 biolink:PhenotypicFeature HP:0100602 biolink:PhenotypicFeature Orphanet:98028 biolink:Disease Rare circulatory system disease HP:0001376 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003020 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0004934 biolink:PhenotypicFeature HP:0005116 biolink:PhenotypicFeature HP:0005922 biolink:PhenotypicFeature HP:0006135 biolink:PhenotypicFeature HP:0006248 biolink:PhenotypicFeature HP:0008800 biolink:PhenotypicFeature HP:0011004 biolink:PhenotypicFeature HP:0025015 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0002942 biolink:PhenotypicFeature HP:0004417 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0010833 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0030314 biolink:PhenotypicFeature HP:0030834 biolink:PhenotypicFeature HP:0030839 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001832 biolink:PhenotypicFeature HP:0003207 biolink:PhenotypicFeature HP:0003276 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature Orphanet:210136 biolink:Disease Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome HP:0001409 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0011954 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002111 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003281 biolink:PhenotypicFeature HP:0006707 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0030830 biolink:PhenotypicFeature HP:0001685 biolink:PhenotypicFeature HP:0002103 biolink:PhenotypicFeature HP:0030829 biolink:PhenotypicFeature Orphanet:96179 biolink:Disease Maternal uniparental disomy of chromosome 2 HP:0001511 biolink:PhenotypicFeature HP:0001560 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0003028 biolink:PhenotypicFeature HP:0004639 biolink:PhenotypicFeature HP:0005781 biolink:PhenotypicFeature HP:0000041 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000546 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001587 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004880 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0008440 biolink:PhenotypicFeature HP:0008689 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature Orphanet:79149 biolink:Disease Dermochondrocorneal dystrophy HP:0000924 biolink:PhenotypicFeature HP:0000991 biolink:PhenotypicFeature HP:0001131 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature Orphanet:88673 biolink:Disease Hepatocellular carcinoma HP:0001392 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0006707 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002034 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002040 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0005293 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0410019 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001575 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001894 biolink:PhenotypicFeature HP:0001901 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002480 biolink:PhenotypicFeature HP:0002605 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0004367 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0011029 biolink:PhenotypicFeature HP:0012050 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0025142 biolink:PhenotypicFeature HP:0100762 biolink:PhenotypicFeature HP:0200114 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002639 biolink:PhenotypicFeature HP:0100523 biolink:PhenotypicFeature Orphanet:145 biolink:Disease Hereditary breast and ovarian cancer syndrome HP:0011027 biolink:PhenotypicFeature HP:0030406 biolink:PhenotypicFeature HP:0100615 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0002894 biolink:PhenotypicFeature HP:0012125 biolink:PhenotypicFeature Orphanet:96147 biolink:Disease Kleefstra syndrome due to 9q34 microdeletion HP:0000232 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000035 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0010808 biolink:PhenotypicFeature HP:0011097 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001331 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001710 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012157 biolink:PhenotypicFeature HP:0100308 biolink:PhenotypicFeature HP:0100541 biolink:PhenotypicFeature Orphanet:33402 biolink:Disease Pediatric hepatocellular carcinoma HP:0001395 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0006254 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002605 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030242 biolink:PhenotypicFeature HP:0410019 biolink:PhenotypicFeature Orphanet:2556 biolink:Disease Microphthalmia with linear skin defects syndrome HP:0000528 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000647 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000598 biolink:PhenotypicFeature HP:0000614 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004327 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0009939 biolink:PhenotypicFeature HP:0011531 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0000035 biolink:PhenotypicFeature HP:0000036 biolink:PhenotypicFeature HP:0000037 biolink:PhenotypicFeature HP:0000039 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000363 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000627 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001331 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001704 biolink:PhenotypicFeature HP:0002034 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0004378 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0007731 biolink:PhenotypicFeature HP:0007973 biolink:PhenotypicFeature HP:0008665 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature HP:0011027 biolink:PhenotypicFeature HP:0011265 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature Orphanet:2526 biolink:Disease Microcephaly-lymphedema-chorioretinopathy syndrome HP:0007731 biolink:PhenotypicFeature HP:0007973 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0010310 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0012490 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001820 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0100644 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000614 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001055 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001909 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature Orphanet:2671 biolink:Disease Neu-Laxova syndrome HP:0000252 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0012639 biolink:PhenotypicFeature HP:0100679 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000153 biolink:PhenotypicFeature HP:0000211 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000288 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001331 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001460 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001769 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002179 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002334 biolink:PhenotypicFeature HP:0002536 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003560 biolink:PhenotypicFeature HP:0007227 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000614 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001059 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002748 biolink:PhenotypicFeature HP:0002749 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature Orphanet:2557 biolink:Disease Mietens syndrome HP:0000486 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0003070 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000647 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature HP:0005743 biolink:PhenotypicFeature Orphanet:3047 biolink:Disease Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000028 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0003189 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004426 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005990 biolink:PhenotypicFeature HP:0006695 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008188 biolink:PhenotypicFeature HP:0008191 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100028 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0000614 biolink:PhenotypicFeature HP:0100648 biolink:PhenotypicFeature Orphanet:2554 biolink:Disease Ear-patella-short stature syndrome HP:0000028 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003100 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0009892 biolink:PhenotypicFeature HP:0009939 biolink:PhenotypicFeature HP:0011267 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000059 biolink:PhenotypicFeature HP:0000060 biolink:PhenotypicFeature HP:0000064 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0006443 biolink:PhenotypicFeature HP:0006660 biolink:PhenotypicFeature HP:0008665 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0000039 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0100783 biolink:PhenotypicFeature Orphanet:2932 biolink:Disease Chronic inflammatory demyelinating polyneuropathy HP:0000762 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0003481 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010871 biolink:PhenotypicFeature HP:0011096 biolink:PhenotypicFeature HP:0012078 biolink:PhenotypicFeature HP:0030200 biolink:PhenotypicFeature HP:0040129 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0030237 biolink:PhenotypicFeature HP:0010833 biolink:PhenotypicFeature Orphanet:2995 biolink:Disease Baraitser-Winter cerebrofrontofacial syndrome HP:0000154 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000437 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002000 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0007227 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012905 biolink:PhenotypicFeature HP:0040188 biolink:PhenotypicFeature HP:0000072 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0001100 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0003189 biolink:PhenotypicFeature HP:0010935 biolink:PhenotypicFeature HP:0012157 biolink:PhenotypicFeature HP:0030502 biolink:PhenotypicFeature HP:0100308 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000588 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0009942 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature Orphanet:2273 biolink:Disease Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000077 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000498 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001331 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000614 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0001812 biolink:PhenotypicFeature HP:0002046 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002223 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0004370 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012742 biolink:PhenotypicFeature HP:0045074 biolink:PhenotypicFeature HP:0200020 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000072 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0010935 biolink:PhenotypicFeature HP:0012157 biolink:PhenotypicFeature HP:0012165 biolink:PhenotypicFeature HP:0040163 biolink:PhenotypicFeature HP:0100257 biolink:PhenotypicFeature HP:0100308 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100532 biolink:PhenotypicFeature HP:0100534 biolink:PhenotypicFeature HP:0100825 biolink:PhenotypicFeature Orphanet:3051 biolink:Disease Nicolaides-Baraitser syndrome HP:0000154 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000035 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007392 biolink:PhenotypicFeature HP:0007665 biolink:PhenotypicFeature HP:0009836 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature HP:0011097 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0100760 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:3255 biolink:Disease Filippi syndrome HP:0000028 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0001864 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0010550 biolink:PhenotypicFeature HP:0010580 biolink:PhenotypicFeature HP:0010624 biolink:PhenotypicFeature HP:0010761 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature Orphanet:137902 biolink:Disease Isolated optic nerve hypoplasia/aplasia HP:0001510 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008053 biolink:PhenotypicFeature HP:0011480 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000538 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007766 biolink:PhenotypicFeature HP:0030534 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0007710 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0012547 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature Orphanet:85446 biolink:Disease Wild type ABeta2M amyloidosis HP:0001369 biolink:PhenotypicFeature HP:0030833 biolink:PhenotypicFeature HP:0030834 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0001227 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003447 biolink:PhenotypicFeature HP:0007078 biolink:PhenotypicFeature HP:0012062 biolink:PhenotypicFeature HP:0012185 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0012534 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002242 biolink:PhenotypicFeature HP:0003040 biolink:PhenotypicFeature HP:0005106 biolink:PhenotypicFeature HP:0005108 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0002445 biolink:PhenotypicFeature HP:0003043 biolink:PhenotypicFeature HP:0004389 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0100261 biolink:PhenotypicFeature Orphanet:98879 biolink:Disease Hemophilia B HP:0000790 biolink:PhenotypicFeature HP:0001058 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0003010 biolink:PhenotypicFeature HP:0003645 biolink:PhenotypicFeature HP:0004406 biolink:PhenotypicFeature HP:0004846 biolink:PhenotypicFeature HP:0005261 biolink:PhenotypicFeature HP:0006298 biolink:PhenotypicFeature HP:0011858 biolink:PhenotypicFeature HP:0012233 biolink:PhenotypicFeature HP:0012541 biolink:PhenotypicFeature HP:0040232 biolink:PhenotypicFeature HP:0400008 biolink:PhenotypicFeature Orphanet:98878 biolink:Disease Hemophilia A HP:0001386 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003125 biolink:PhenotypicFeature HP:0005261 biolink:PhenotypicFeature HP:0011889 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature HP:0007420 biolink:PhenotypicFeature HP:0030140 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0012233 biolink:PhenotypicFeature HP:0030746 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0012223 biolink:PhenotypicFeature Orphanet:280365 biolink:Disease Autosomal semi-dominant severe lipodystrophic laminopathy HP:0000347 biolink:PhenotypicFeature HP:0000418 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0000991 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003712 biolink:PhenotypicFeature HP:0003717 biolink:PhenotypicFeature HP:0003758 biolink:PhenotypicFeature HP:0005328 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000287 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000468 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001870 biolink:PhenotypicFeature HP:0002621 biolink:PhenotypicFeature HP:0003233 biolink:PhenotypicFeature HP:0003292 biolink:PhenotypicFeature HP:0003635 biolink:PhenotypicFeature HP:0004416 biolink:PhenotypicFeature HP:0004943 biolink:PhenotypicFeature HP:0006288 biolink:PhenotypicFeature HP:0008968 biolink:PhenotypicFeature HP:0008993 biolink:PhenotypicFeature HP:0009771 biolink:PhenotypicFeature HP:0030685 biolink:PhenotypicFeature HP:0040266 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001677 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0005115 biolink:PhenotypicFeature HP:0005150 biolink:PhenotypicFeature HP:0100607 biolink:PhenotypicFeature HP:0004308 biolink:PhenotypicFeature Orphanet:309246 biolink:Disease GM2 gangliosidosis, AB variant HP:0001332 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002180 biolink:PhenotypicFeature HP:0002267 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002478 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0010780 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100852 biolink:PhenotypicFeature HP:0000719 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002371 biolink:PhenotypicFeature HP:0002476 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0010729 biolink:PhenotypicFeature HP:0012547 biolink:PhenotypicFeature HP:0030904 biolink:PhenotypicFeature HP:0002200 biolink:PhenotypicFeature HP:0030081 biolink:PhenotypicFeature Orphanet:98896 biolink:Disease Duchenne muscular dystrophy HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003323 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:70589 biolink:Disease Bronchopulmonary dysplasia HP:0001518 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0006528 biolink:PhenotypicFeature HP:0012419 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0001667 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002795 biolink:PhenotypicFeature HP:0002871 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0006597 biolink:PhenotypicFeature HP:0012252 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0002786 biolink:PhenotypicFeature HP:0100632 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature Orphanet:252183 biolink:Disease Neurofibroma HP:0001067 biolink:PhenotypicFeature HP:0007470 biolink:PhenotypicFeature HP:0009732 biolink:PhenotypicFeature HP:0012645 biolink:PhenotypicFeature HP:0100698 biolink:PhenotypicFeature HP:0001291 biolink:PhenotypicFeature HP:0003406 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0006751 biolink:PhenotypicFeature HP:0006851 biolink:PhenotypicFeature HP:0009735 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0002584 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0005220 biolink:PhenotypicFeature HP:0007524 biolink:PhenotypicFeature HP:0007576 biolink:PhenotypicFeature HP:0009593 biolink:PhenotypicFeature HP:0011801 biolink:PhenotypicFeature HP:0012289 biolink:PhenotypicFeature HP:0012440 biolink:PhenotypicFeature HP:0100010 biolink:PhenotypicFeature HP:0100013 biolink:PhenotypicFeature HP:0100527 biolink:PhenotypicFeature HP:0100551 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0010609 biolink:PhenotypicFeature Orphanet:2495 biolink:Disease Meningioma HP:0010997 biolink:PhenotypicFeature HP:0011133 biolink:PhenotypicFeature HP:0100009 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002920 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0008163 biolink:PhenotypicFeature HP:0008214 biolink:PhenotypicFeature HP:0008230 biolink:PhenotypicFeature HP:0008240 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature HP:0012658 biolink:PhenotypicFeature HP:0012691 biolink:PhenotypicFeature HP:0030341 biolink:PhenotypicFeature HP:0030344 biolink:PhenotypicFeature HP:0030521 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0001067 biolink:PhenotypicFeature HP:0001085 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0004408 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0007715 biolink:PhenotypicFeature HP:0007924 biolink:PhenotypicFeature HP:0008202 biolink:PhenotypicFeature HP:0008237 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0011442 biolink:PhenotypicFeature HP:0011730 biolink:PhenotypicFeature HP:0011750 biolink:PhenotypicFeature HP:0012246 biolink:PhenotypicFeature HP:0012285 biolink:PhenotypicFeature HP:0012505 biolink:PhenotypicFeature HP:0030532 biolink:PhenotypicFeature HP:0030591 biolink:PhenotypicFeature HP:0100010 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100661 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002512 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0006520 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0010534 biolink:PhenotypicFeature HP:0010828 biolink:PhenotypicFeature HP:0011752 biolink:PhenotypicFeature HP:0030766 biolink:PhenotypicFeature HP:0030878 biolink:PhenotypicFeature HP:0045026 biolink:PhenotypicFeature HP:0100648 biolink:PhenotypicFeature Orphanet:2394 biolink:Disease Pyruvate dehydrogenase E3 deficiency HP:0001290 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002480 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0008344 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012402 biolink:PhenotypicFeature HP:0100724 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0003234 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0010913 biolink:PhenotypicFeature HP:0030872 biolink:PhenotypicFeature Orphanet:615 biolink:Disease Familial atrial myxoma HP:0011672 biolink:PhenotypicFeature HP:0006691 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0006689 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0004944 biolink:PhenotypicFeature Orphanet:412066 biolink:Disease PRKAR1B-related neurodegenerative dementia with intermediate filaments HP:0000726 biolink:PhenotypicFeature HP:0000719 biolink:PhenotypicFeature HP:0002145 biolink:PhenotypicFeature HP:0002333 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0012757 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002362 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0002506 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0007311 biolink:PhenotypicFeature HP:0010794 biolink:PhenotypicFeature HP:0030216 biolink:PhenotypicFeature HP:0006892 biolink:PhenotypicFeature HP:0002503 biolink:PhenotypicFeature HP:0007373 biolink:PhenotypicFeature Orphanet:98976 biolink:Disease Congenital glaucoma HP:0000501 biolink:PhenotypicFeature HP:0001052 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature Orphanet:616 biolink:Disease Medulloblastoma HP:0002885 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001291 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0004481 biolink:PhenotypicFeature HP:0007129 biolink:PhenotypicFeature HP:0009878 biolink:PhenotypicFeature HP:0012658 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002350 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0005227 biolink:PhenotypicFeature HP:0005561 biolink:PhenotypicFeature HP:0007352 biolink:PhenotypicFeature HP:0007824 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0010302 biolink:PhenotypicFeature HP:0011695 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003006 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature Orphanet:899 biolink:Disease Walker-Warburg syndrome HP:0000238 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0001460 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002334 biolink:PhenotypicFeature HP:0002536 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003560 biolink:PhenotypicFeature HP:0007227 biolink:PhenotypicFeature HP:0007731 biolink:PhenotypicFeature HP:0007973 biolink:PhenotypicFeature HP:0010508 biolink:PhenotypicFeature HP:0012400 biolink:PhenotypicFeature HP:0040081 biolink:PhenotypicFeature HP:0045040 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001331 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature Orphanet:75840 biolink:Disease Congenital muscular dystrophy, Ullrich type HP:0000174 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0004303 biolink:PhenotypicFeature HP:0005072 biolink:PhenotypicFeature HP:0006149 biolink:PhenotypicFeature HP:0100297 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001238 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003700 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature HP:0009113 biolink:PhenotypicFeature HP:0010511 biolink:PhenotypicFeature Orphanet:231111 biolink:Disease Drug-induced lupus erythematosus HP:0000790 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003138 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0005184 biolink:PhenotypicFeature HP:0005421 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0025300 biolink:PhenotypicFeature HP:0025343 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0045042 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0045073 biolink:PhenotypicFeature HP:0025142 biolink:PhenotypicFeature Orphanet:100050 biolink:Disease Hereditary angioedema type 1 HP:0000282 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0005225 biolink:PhenotypicFeature HP:0007514 biolink:PhenotypicFeature HP:0011971 biolink:PhenotypicFeature HP:0012027 biolink:PhenotypicFeature HP:0012252 biolink:PhenotypicFeature HP:0025349 biolink:PhenotypicFeature HP:0040315 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0100755 biolink:PhenotypicFeature HP:0000172 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0005348 biolink:PhenotypicFeature HP:0005483 biolink:PhenotypicFeature HP:0011855 biolink:PhenotypicFeature HP:0100736 biolink:PhenotypicFeature Orphanet:2905 biolink:Disease POEMS syndrome HP:0001271 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0003271 biolink:PhenotypicFeature HP:0005523 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0011122 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001085 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001820 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001894 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002694 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0004054 biolink:PhenotypicFeature HP:0004576 biolink:PhenotypicFeature HP:0004979 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0100639 biolink:PhenotypicFeature HP:0100759 biolink:PhenotypicFeature HP:0100925 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0001063 biolink:PhenotypicFeature HP:0001901 biolink:PhenotypicFeature HP:0002111 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0100963 biolink:PhenotypicFeature Orphanet:2975 biolink:Disease 46,XX disorder of sex development-skeletal anomalies syndrome HP:0000061 biolink:PhenotypicFeature HP:0000063 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0003083 biolink:PhenotypicFeature HP:0003871 biolink:PhenotypicFeature HP:0007628 biolink:PhenotypicFeature HP:0010650 biolink:PhenotypicFeature HP:0040253 biolink:PhenotypicFeature HP:0000130 biolink:PhenotypicFeature HP:0000137 biolink:PhenotypicFeature HP:0000142 biolink:PhenotypicFeature Orphanet:363400 biolink:Disease Severe neurodegenerative syndrome with lipodystrophy HP:0002448 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0003758 biolink:PhenotypicFeature HP:0007272 biolink:PhenotypicFeature HP:0009064 biolink:PhenotypicFeature HP:0025128 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002275 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0002340 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0002529 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature Orphanet:1666 biolink:Disease Dextrocardia HP:0001651 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0003115 biolink:PhenotypicFeature HP:0010872 biolink:PhenotypicFeature HP:0001696 biolink:PhenotypicFeature HP:0011603 biolink:PhenotypicFeature HP:0000069 biolink:PhenotypicFeature HP:0001743 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0004414 biolink:PhenotypicFeature HP:0011615 biolink:PhenotypicFeature HP:0011620 biolink:PhenotypicFeature HP:0012210 biolink:PhenotypicFeature HP:0012243 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0002245 biolink:PhenotypicFeature HP:0002594 biolink:PhenotypicFeature HP:0003006 biolink:PhenotypicFeature HP:0008771 biolink:PhenotypicFeature Orphanet:2176 biolink:Disease Infantile systemic hyalinosis HP:0000147 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000834 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002570 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002749 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0010515 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:347 biolink:Disease Frasier syndrome HP:0000033 biolink:PhenotypicFeature HP:0000037 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000097 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0008214 biolink:PhenotypicFeature HP:0008723 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000150 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0010464 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature Orphanet:198 biolink:Disease Occipital horn syndrome HP:0000239 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0100777 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002036 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002578 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002748 biolink:PhenotypicFeature HP:0002749 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004408 biolink:PhenotypicFeature HP:0005293 biolink:PhenotypicFeature HP:0010562 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0025270 biolink:PhenotypicFeature HP:0100240 biolink:PhenotypicFeature HP:0100633 biolink:PhenotypicFeature HP:0100699 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000015 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature HP:0003172 biolink:PhenotypicFeature HP:0003874 biolink:PhenotypicFeature HP:0005743 biolink:PhenotypicFeature HP:0006507 biolink:PhenotypicFeature HP:0006660 biolink:PhenotypicFeature HP:0008818 biolink:PhenotypicFeature HP:0009556 biolink:PhenotypicFeature HP:0100541 biolink:PhenotypicFeature HP:0100874 biolink:PhenotypicFeature HP:0200021 biolink:PhenotypicFeature Orphanet:3342 biolink:Disease Arterial tortuosity syndrome HP:0001635 biolink:PhenotypicFeature HP:0002616 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0004942 biolink:PhenotypicFeature HP:0005344 biolink:PhenotypicFeature HP:0100545 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0002647 biolink:PhenotypicFeature HP:0004415 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0008501 biolink:PhenotypicFeature HP:0010668 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100541 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000563 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001119 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001637 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001695 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002036 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005743 biolink:PhenotypicFeature HP:0006543 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0011302 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0100633 biolink:PhenotypicFeature Orphanet:2959 biolink:Disease Progeria-short stature-pigmented nevi syndrome HP:0001596 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003808 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005115 biolink:PhenotypicFeature HP:0005320 biolink:PhenotypicFeature HP:0005328 biolink:PhenotypicFeature HP:0005364 biolink:PhenotypicFeature HP:0005403 biolink:PhenotypicFeature HP:0007481 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0008214 biolink:PhenotypicFeature HP:0008230 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010536 biolink:PhenotypicFeature HP:0010663 biolink:PhenotypicFeature HP:0025124 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000320 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000408 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000585 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000831 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001592 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001935 biolink:PhenotypicFeature HP:0002572 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002894 biolink:PhenotypicFeature HP:0002943 biolink:PhenotypicFeature HP:0040160 biolink:PhenotypicFeature Orphanet:3107 biolink:Disease Autosomal dominant Robinow syndrome HP:0000316 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000059 biolink:PhenotypicFeature HP:0000060 biolink:PhenotypicFeature HP:0000064 biolink:PhenotypicFeature HP:0000168 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007665 biolink:PhenotypicFeature HP:0008501 biolink:PhenotypicFeature HP:0010297 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0012905 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000036 biolink:PhenotypicFeature HP:0000039 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000674 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0005306 biolink:PhenotypicFeature HP:0005743 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008402 biolink:PhenotypicFeature HP:0010733 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0040036 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100541 biolink:PhenotypicFeature HP:0100798 biolink:PhenotypicFeature Orphanet:35107 biolink:Disease Desmosterolosis HP:0000175 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001331 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000363 biolink:PhenotypicFeature HP:0000366 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0009748 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002536 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0007227 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0010772 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0011002 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature Orphanet:3339 biolink:Disease Toriello-Lacassie-Droste syndrome HP:0004279 biolink:PhenotypicFeature HP:0008749 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0000014 biolink:PhenotypicFeature HP:0000036 biolink:PhenotypicFeature HP:0000039 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000625 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0000502 biolink:PhenotypicFeature HP:0001140 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001331 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0012639 biolink:PhenotypicFeature HP:0000069 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000598 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature Orphanet:99857 biolink:Disease Secondary syringomyelia HP:0003396 biolink:PhenotypicFeature HP:0040272 biolink:PhenotypicFeature HP:0000224 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003473 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007209 biolink:PhenotypicFeature HP:0010532 biolink:PhenotypicFeature HP:0010550 biolink:PhenotypicFeature HP:0010871 biolink:PhenotypicFeature HP:0012229 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001283 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002858 biolink:PhenotypicFeature HP:0006984 biolink:PhenotypicFeature HP:0007024 biolink:PhenotypicFeature HP:0007305 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature Orphanet:254704 biolink:Disease Genetic hyperferritinemia without iron overload HP:0003281 biolink:PhenotypicFeature HP:0001808 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0012465 biolink:PhenotypicFeature HP:0040130 biolink:PhenotypicFeature HP:0040135 biolink:PhenotypicFeature Orphanet:95512 biolink:Disease Adenohypophysitis HP:0000871 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001278 biolink:PhenotypicFeature HP:0001895 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0003158 biolink:PhenotypicFeature HP:0007987 biolink:PhenotypicFeature HP:0008163 biolink:PhenotypicFeature HP:0008213 biolink:PhenotypicFeature HP:0008214 biolink:PhenotypicFeature HP:0008230 biolink:PhenotypicFeature HP:0008240 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature HP:0011735 biolink:PhenotypicFeature HP:0011748 biolink:PhenotypicFeature HP:0012504 biolink:PhenotypicFeature HP:0012696 biolink:PhenotypicFeature HP:0030018 biolink:PhenotypicFeature HP:0040306 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0007041 biolink:PhenotypicFeature HP:0008202 biolink:PhenotypicFeature Orphanet:95513 biolink:Disease Panhypophysitis HP:0000863 biolink:PhenotypicFeature HP:0000871 biolink:PhenotypicFeature HP:0011751 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001278 biolink:PhenotypicFeature HP:0001895 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0003158 biolink:PhenotypicFeature HP:0007987 biolink:PhenotypicFeature HP:0008163 biolink:PhenotypicFeature HP:0008213 biolink:PhenotypicFeature HP:0008214 biolink:PhenotypicFeature HP:0008230 biolink:PhenotypicFeature HP:0008240 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature HP:0011735 biolink:PhenotypicFeature HP:0011748 biolink:PhenotypicFeature HP:0012504 biolink:PhenotypicFeature HP:0012696 biolink:PhenotypicFeature HP:0030018 biolink:PhenotypicFeature HP:0040306 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0007041 biolink:PhenotypicFeature HP:0008202 biolink:PhenotypicFeature Orphanet:2849 biolink:Disease Perlman syndrome HP:0000098 biolink:PhenotypicFeature HP:0000177 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000187 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000391 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0012090 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0005306 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0010733 biolink:PhenotypicFeature HP:0100541 biolink:PhenotypicFeature Orphanet:91355 biolink:Disease Sheehan syndrome HP:0030016 biolink:PhenotypicFeature HP:0030018 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0007041 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0030907 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000863 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0000871 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0008163 biolink:PhenotypicFeature HP:0008240 biolink:PhenotypicFeature HP:0011735 biolink:PhenotypicFeature HP:0011748 biolink:PhenotypicFeature HP:0012432 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001278 biolink:PhenotypicFeature HP:0001895 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002215 biolink:PhenotypicFeature HP:0002225 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0003158 biolink:PhenotypicFeature HP:0003187 biolink:PhenotypicFeature HP:0007987 biolink:PhenotypicFeature HP:0008202 biolink:PhenotypicFeature HP:0008213 biolink:PhenotypicFeature HP:0008214 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature HP:0011734 biolink:PhenotypicFeature HP:0012504 biolink:PhenotypicFeature Orphanet:2658 biolink:Disease Lenz-Majewski hyperostotic dwarfism HP:0000239 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0002684 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004437 biolink:PhenotypicFeature HP:0005465 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006660 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0009773 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0011002 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000036 biolink:PhenotypicFeature HP:0000039 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000614 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0003070 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0100541 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001331 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0001812 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature Orphanet:2780 biolink:Disease Osteopathia striata-cranial sclerosis syndrome HP:0000944 biolink:PhenotypicFeature HP:0002684 biolink:PhenotypicFeature HP:0005465 biolink:PhenotypicFeature HP:0008808 biolink:PhenotypicFeature HP:0008818 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0011002 biolink:PhenotypicFeature HP:0100670 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001555 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature Orphanet:263665 biolink:Disease NK-cell enteropathy HP:0000969 biolink:PhenotypicFeature HP:0005523 biolink:PhenotypicFeature HP:0100828 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002253 biolink:PhenotypicFeature HP:0002573 biolink:PhenotypicFeature HP:0002588 biolink:PhenotypicFeature HP:0002592 biolink:PhenotypicFeature HP:0004295 biolink:PhenotypicFeature HP:0005266 biolink:PhenotypicFeature HP:0012425 biolink:PhenotypicFeature Orphanet:398189 biolink:Disease Focal facial dermal dysplasia type IV HP:0000252 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0003764 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0011124 biolink:PhenotypicFeature HP:0025167 biolink:PhenotypicFeature HP:0100494 biolink:PhenotypicFeature HP:0100699 biolink:PhenotypicFeature HP:0004426 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:3000019 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000204 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature Orphanet:37202 biolink:Disease Interstitial cystitis HP:0100515 biolink:PhenotypicFeature HP:0100577 biolink:PhenotypicFeature HP:0000142 biolink:PhenotypicFeature HP:0000009 biolink:PhenotypicFeature HP:0000012 biolink:PhenotypicFeature HP:0000014 biolink:PhenotypicFeature HP:0000017 biolink:PhenotypicFeature HP:0000058 biolink:PhenotypicFeature HP:0000078 biolink:PhenotypicFeature HP:0000140 biolink:PhenotypicFeature HP:0000795 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0030016 biolink:PhenotypicFeature Orphanet:67036 biolink:Disease Autosomal dominant optic atrophy and cataract HP:0000505 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000603 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002522 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0010924 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0000552 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000642 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001377 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature HP:0002403 biolink:PhenotypicFeature HP:0003438 biolink:PhenotypicFeature HP:0006248 biolink:PhenotypicFeature HP:0007076 biolink:PhenotypicFeature HP:0007787 biolink:PhenotypicFeature HP:0007795 biolink:PhenotypicFeature HP:0007976 biolink:PhenotypicFeature HP:0009468 biolink:PhenotypicFeature HP:0010522 biolink:PhenotypicFeature HP:0010923 biolink:PhenotypicFeature Orphanet:293621 biolink:Disease X-linked endothelial corneal dystrophy HP:0000585 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0011488 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0100018 biolink:PhenotypicFeature Orphanet:2396 biolink:Disease Encephalocraniocutaneous lipomatosis HP:0000488 biolink:PhenotypicFeature HP:0000991 biolink:PhenotypicFeature HP:0001012 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0012759 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000614 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0001052 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001331 biolink:PhenotypicFeature HP:0001704 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0004493 biolink:PhenotypicFeature HP:0005306 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature HP:0010622 biolink:PhenotypicFeature HP:0012062 biolink:PhenotypicFeature HP:0012157 biolink:PhenotypicFeature HP:0100761 biolink:PhenotypicFeature HP:0000943 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0002445 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002763 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0011611 biolink:PhenotypicFeature HP:0040188 biolink:PhenotypicFeature Orphanet:67044 biolink:Disease Thrombocytopenia with congenital dyserythropoietic anemia HP:0000028 biolink:PhenotypicFeature HP:0001931 biolink:PhenotypicFeature HP:0004447 biolink:PhenotypicFeature HP:0010972 biolink:PhenotypicFeature HP:0011273 biolink:PhenotypicFeature HP:0012143 biolink:PhenotypicFeature HP:0012145 biolink:PhenotypicFeature HP:0040185 biolink:PhenotypicFeature HP:0045040 biolink:PhenotypicFeature Orphanet:71529 biolink:Disease Obesity due to melanocortin 4 receptor deficiency HP:0001513 biolink:PhenotypicFeature HP:0009126 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0008915 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature Orphanet:179494 biolink:Disease Obesity due to leptin receptor gene deficiency HP:0001513 biolink:PhenotypicFeature HP:0003292 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0005407 biolink:PhenotypicFeature HP:0005419 biolink:PhenotypicFeature HP:0008187 biolink:PhenotypicFeature HP:0008214 biolink:PhenotypicFeature HP:0008230 biolink:PhenotypicFeature HP:0008724 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000831 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0004926 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature Orphanet:66628 biolink:Disease Obesity due to congenital leptin deficiency HP:0001513 biolink:PhenotypicFeature HP:0003292 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0005407 biolink:PhenotypicFeature HP:0005419 biolink:PhenotypicFeature HP:0008187 biolink:PhenotypicFeature HP:0008214 biolink:PhenotypicFeature HP:0008230 biolink:PhenotypicFeature HP:0008724 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0000831 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0004926 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature Orphanet:144 biolink:Disease Lynch syndrome HP:0001824 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0003003 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100843 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001522 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0100613 biolink:PhenotypicFeature HP:0100743 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature HP:0002894 biolink:PhenotypicFeature HP:0003006 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0006725 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0010524 biolink:PhenotypicFeature HP:0010526 biolink:PhenotypicFeature HP:0010622 biolink:PhenotypicFeature HP:0010786 biolink:PhenotypicFeature HP:0100031 biolink:PhenotypicFeature HP:0100571 biolink:PhenotypicFeature HP:0100576 biolink:PhenotypicFeature HP:0100615 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0100835 biolink:PhenotypicFeature HP:0200008 biolink:PhenotypicFeature Orphanet:797 biolink:Disease Sarcoidosis HP:0000554 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002103 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0011121 biolink:PhenotypicFeature HP:0012219 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100828 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000433 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000502 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000620 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002733 biolink:PhenotypicFeature HP:0002781 biolink:PhenotypicFeature HP:0002921 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0004756 biolink:PhenotypicFeature HP:0007734 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010310 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011801 biolink:PhenotypicFeature HP:0011850 biolink:PhenotypicFeature HP:0012062 biolink:PhenotypicFeature HP:0012243 biolink:PhenotypicFeature HP:0012722 biolink:PhenotypicFeature HP:0030146 biolink:PhenotypicFeature HP:0030872 biolink:PhenotypicFeature HP:0040186 biolink:PhenotypicFeature HP:0100699 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000834 biolink:PhenotypicFeature HP:0000836 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature Orphanet:70476 biolink:Disease Vernal keratoconjunctivitis HP:0000481 biolink:PhenotypicFeature HP:0000502 biolink:PhenotypicFeature HP:0000591 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000632 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0011496 biolink:PhenotypicFeature HP:0011859 biolink:PhenotypicFeature HP:0012393 biolink:PhenotypicFeature HP:0100699 biolink:PhenotypicFeature Orphanet:280397 biolink:Disease Familial Alzheimer-like prion disease HP:0000708 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002549 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0011458 biolink:PhenotypicFeature HP:0030223 biolink:PhenotypicFeature HP:0040264 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:329228 biolink:Disease Microcephalic primordial dwarfism due to ZNF335 deficiency HP:0000252 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0002060 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002472 biolink:PhenotypicFeature HP:0002538 biolink:PhenotypicFeature HP:0009879 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0012757 biolink:PhenotypicFeature Orphanet:46 biolink:Disease Adenylosuccinate lyase deficiency HP:0000219 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0007103 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature Orphanet:905 biolink:Disease Wilson disease HP:0000140 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002756 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0004324 biolink:PhenotypicFeature HP:0006554 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0030214 biolink:PhenotypicFeature HP:0200032 biolink:PhenotypicFeature HP:0200119 biolink:PhenotypicFeature Orphanet:324422 biolink:Disease ALG13-CDG HP:0012469 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000817 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0030047 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:352649 biolink:Disease Brain dopamine-serotonin vesicular transport disease HP:0000338 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002310 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002362 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0002597 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0010307 biolink:PhenotypicFeature HP:0010553 biolink:PhenotypicFeature HP:0011443 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030215 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:1941 biolink:Disease Juvenile absence epilepsy HP:0002069 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002392 biolink:PhenotypicFeature HP:0000153 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature Orphanet:95613 biolink:Disease Pituitary apoplexy HP:0030521 biolink:PhenotypicFeature HP:0030907 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0008202 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature HP:0011748 biolink:PhenotypicFeature HP:0030591 biolink:PhenotypicFeature HP:0030595 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002921 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0011499 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0040075 biolink:PhenotypicFeature HP:0100829 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0000863 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001578 biolink:PhenotypicFeature HP:0001895 biolink:PhenotypicFeature HP:0002339 biolink:PhenotypicFeature HP:0100661 biolink:PhenotypicFeature Orphanet:91351 biolink:Disease Pituitary dermoid and epidermoid cysts HP:0000830 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0011750 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0000871 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0002331 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0010514 biolink:PhenotypicFeature HP:0012505 biolink:PhenotypicFeature HP:0030907 biolink:PhenotypicFeature HP:0100829 biolink:PhenotypicFeature HP:0000798 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0011442 biolink:PhenotypicFeature HP:0011730 biolink:PhenotypicFeature HP:0001117 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature Orphanet:324290 biolink:Disease Early-onset Lafora body disease HP:0001336 biolink:PhenotypicFeature HP:0100318 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0011999 biolink:PhenotypicFeature Orphanet:199299 biolink:Disease Late-onset isolated ACTH deficiency HP:0008220 biolink:PhenotypicFeature HP:0011735 biolink:PhenotypicFeature HP:0011748 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002920 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0001587 biolink:PhenotypicFeature HP:0001897 biolink:PhenotypicFeature HP:0001972 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0011134 biolink:PhenotypicFeature HP:0100647 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature HP:0000829 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001278 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002608 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0006462 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature Orphanet:31150 biolink:Disease Tangier disease HP:0002155 biolink:PhenotypicFeature HP:0003146 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002730 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0004943 biolink:PhenotypicFeature HP:0005145 biolink:PhenotypicFeature HP:0007133 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0030814 biolink:PhenotypicFeature HP:0001349 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0006901 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0100546 biolink:PhenotypicFeature Orphanet:238329 biolink:Disease Severe X-linked mitochondrial encephalomyopathy HP:0000750 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003390 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0006829 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010994 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001308 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002375 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0003542 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0009025 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature Orphanet:97282 biolink:Disease VIPoma HP:0002894 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0005208 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001895 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012432 biolink:PhenotypicFeature HP:0001046 biolink:PhenotypicFeature HP:0001406 biolink:PhenotypicFeature HP:0001438 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0012334 biolink:PhenotypicFeature HP:0030895 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0001031 biolink:PhenotypicFeature HP:0001578 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature HP:0002896 biolink:PhenotypicFeature HP:0002897 biolink:PhenotypicFeature HP:0003005 biolink:PhenotypicFeature HP:0003528 biolink:PhenotypicFeature HP:0006719 biolink:PhenotypicFeature HP:0006731 biolink:PhenotypicFeature HP:0008200 biolink:PhenotypicFeature HP:0008256 biolink:PhenotypicFeature HP:0002573 biolink:PhenotypicFeature Orphanet:407 biolink:Disease Glycine encephalopathy HP:0001250 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002154 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0010851 biolink:PhenotypicFeature HP:0011398 biolink:PhenotypicFeature HP:0012705 biolink:PhenotypicFeature HP:0100247 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0005957 biolink:PhenotypicFeature HP:0005972 biolink:PhenotypicFeature Orphanet:3386 biolink:Disease American trypanosomiasis HP:0000969 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0011355 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0100539 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002571 biolink:PhenotypicFeature HP:0012700 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature Orphanet:244310 biolink:Disease RFT1-CDG HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0001977 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000932 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002401 biolink:PhenotypicFeature HP:0007146 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature Orphanet:370927 biolink:Disease SSR4-CDG HP:0003256 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0011339 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001331 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature Orphanet:238459 biolink:Disease SLC35A1-CDG HP:0001873 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001902 biolink:PhenotypicFeature HP:0001933 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0003010 biolink:PhenotypicFeature HP:0011883 biolink:PhenotypicFeature HP:0012143 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0040223 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature Orphanet:370921 biolink:Disease STT3A-CDG HP:0000252 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012345 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0007772 biolink:PhenotypicFeature Orphanet:370924 biolink:Disease STT3B-CDG HP:0000252 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012345 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000078 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature Orphanet:521 biolink:Disease Chronic myeloid leukemia HP:0005547 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001871 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001894 biolink:PhenotypicFeature HP:0001911 biolink:PhenotypicFeature HP:0001912 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:3389 biolink:Disease Tuberculosis HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature Orphanet:263534 biolink:Disease Acral peeling skin syndrome HP:0000964 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012393 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0007605 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature Orphanet:33276 biolink:Disease Kaposi sarcoma HP:0005353 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0000479 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001743 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0005523 biolink:PhenotypicFeature HP:0008940 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0005293 biolink:PhenotypicFeature HP:0011793 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature Orphanet:97278 biolink:Disease PPoma HP:0002894 biolink:PhenotypicFeature HP:0100833 biolink:PhenotypicFeature HP:0001438 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0030144 biolink:PhenotypicFeature HP:0001046 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001406 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0006723 biolink:PhenotypicFeature HP:0012334 biolink:PhenotypicFeature HP:0030145 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0001031 biolink:PhenotypicFeature HP:0001578 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature HP:0002897 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0008200 biolink:PhenotypicFeature HP:0008256 biolink:PhenotypicFeature Orphanet:401945 biolink:Disease Moyamoya disease with early-onset achalasia HP:0001297 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0011834 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0030402 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature Orphanet:913 biolink:Disease Zollinger-Ellison syndrome HP:0002044 biolink:PhenotypicFeature HP:0100634 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0002588 biolink:PhenotypicFeature HP:0004398 biolink:PhenotypicFeature HP:0100633 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0000843 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0000854 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001012 biolink:PhenotypicFeature HP:0001578 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002573 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0003165 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0006767 biolink:PhenotypicFeature HP:0008208 biolink:PhenotypicFeature HP:0008256 biolink:PhenotypicFeature HP:0008291 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011760 biolink:PhenotypicFeature HP:0011761 biolink:PhenotypicFeature HP:0012030 biolink:PhenotypicFeature HP:0012032 biolink:PhenotypicFeature HP:0012334 biolink:PhenotypicFeature HP:0030404 biolink:PhenotypicFeature HP:0030688 biolink:PhenotypicFeature HP:0006744 biolink:PhenotypicFeature Orphanet:2976 biolink:Disease Pseudoleprechaunism syndrome, Patterson type HP:0003310 biolink:PhenotypicFeature HP:0004979 biolink:PhenotypicFeature HP:0006505 biolink:PhenotypicFeature HP:0007517 biolink:PhenotypicFeature HP:0007574 biolink:PhenotypicFeature HP:0008788 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012767 biolink:PhenotypicFeature HP:0430005 biolink:PhenotypicFeature HP:0430028 biolink:PhenotypicFeature HP:3000077 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0012412 biolink:PhenotypicFeature HP:0030348 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0000015 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001833 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002684 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003180 biolink:PhenotypicFeature Orphanet:31824 biolink:Disease Colchicine poisoning HP:0001942 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001871 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002148 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0002917 biolink:PhenotypicFeature HP:0003111 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0004360 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature HP:0006543 biolink:PhenotypicFeature HP:0006846 biolink:PhenotypicFeature HP:0011106 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0030149 biolink:PhenotypicFeature HP:0100520 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature Orphanet:250977 biolink:Disease AICA-ribosiduria HP:0000063 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0007875 biolink:PhenotypicFeature HP:0008665 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature Orphanet:97280 biolink:Disease Glucagonoma HP:0002894 biolink:PhenotypicFeature HP:0000206 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001895 biolink:PhenotypicFeature HP:0001927 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0010280 biolink:PhenotypicFeature HP:0012432 biolink:PhenotypicFeature HP:0031181 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0001046 biolink:PhenotypicFeature HP:0001406 biolink:PhenotypicFeature HP:0001438 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002570 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0012334 biolink:PhenotypicFeature HP:0030145 biolink:PhenotypicFeature HP:0030895 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0001031 biolink:PhenotypicFeature HP:0001578 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature HP:0002897 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0008200 biolink:PhenotypicFeature HP:0008256 biolink:PhenotypicFeature Orphanet:673 biolink:Disease Malaria HP:0001903 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0001871 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature Orphanet:507 biolink:Disease Leishmaniasis HP:0000163 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001954 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0004311 biolink:PhenotypicFeature HP:0011830 biolink:PhenotypicFeature HP:0012384 biolink:PhenotypicFeature HP:0030166 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:39044 biolink:Disease Uveal melanoma HP:0000572 biolink:PhenotypicFeature HP:0001098 biolink:PhenotypicFeature HP:0012054 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0011524 biolink:PhenotypicFeature HP:0012055 biolink:PhenotypicFeature HP:0000539 biolink:PhenotypicFeature HP:0007902 biolink:PhenotypicFeature HP:0007906 biolink:PhenotypicFeature HP:0008494 biolink:PhenotypicFeature HP:0010920 biolink:PhenotypicFeature HP:0011499 biolink:PhenotypicFeature HP:0012508 biolink:PhenotypicFeature HP:0030786 biolink:PhenotypicFeature HP:0030800 biolink:PhenotypicFeature HP:0100533 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature Orphanet:97261 biolink:Disease GRFoma HP:0000845 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0001438 biolink:PhenotypicFeature HP:0001578 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002044 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0002894 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0007410 biolink:PhenotypicFeature HP:0030144 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0001031 biolink:PhenotypicFeature HP:0001046 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001406 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature HP:0002897 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0006723 biolink:PhenotypicFeature HP:0008200 biolink:PhenotypicFeature HP:0008256 biolink:PhenotypicFeature HP:0012334 biolink:PhenotypicFeature HP:0030145 biolink:PhenotypicFeature HP:0100833 biolink:PhenotypicFeature HP:0002666 biolink:PhenotypicFeature HP:0100521 biolink:PhenotypicFeature Orphanet:97283 biolink:Disease Somatostatinoma HP:0000819 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002570 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0002894 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0004840 biolink:PhenotypicFeature HP:0005609 biolink:PhenotypicFeature HP:0012432 biolink:PhenotypicFeature HP:0100833 biolink:PhenotypicFeature HP:0001046 biolink:PhenotypicFeature HP:0001406 biolink:PhenotypicFeature HP:0001438 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0012334 biolink:PhenotypicFeature HP:0030145 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0001031 biolink:PhenotypicFeature HP:0001578 biolink:PhenotypicFeature HP:0002865 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature HP:0002897 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0008200 biolink:PhenotypicFeature HP:0008256 biolink:PhenotypicFeature Orphanet:140976 biolink:Disease RHYNS syndrome HP:0000090 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0040075 biolink:PhenotypicFeature HP:0000002 biolink:PhenotypicFeature HP:0000003 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000946 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003170 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0006897 biolink:PhenotypicFeature HP:0010585 biolink:PhenotypicFeature HP:0011314 biolink:PhenotypicFeature Orphanet:178333 biolink:Disease Åland Islands eye disease HP:0000483 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000551 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007750 biolink:PhenotypicFeature HP:0007894 biolink:PhenotypicFeature HP:0030513 biolink:PhenotypicFeature Orphanet:96121 biolink:Disease 7q11.23 microduplication syndrome HP:0000750 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000363 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000699 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001724 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0009879 biolink:PhenotypicFeature HP:0009929 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000200 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0000753 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004768 biolink:PhenotypicFeature HP:0009748 biolink:PhenotypicFeature HP:0010794 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011228 biolink:PhenotypicFeature HP:0011333 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000805 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002779 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0007772 biolink:PhenotypicFeature HP:0008655 biolink:PhenotypicFeature HP:0008684 biolink:PhenotypicFeature HP:0012795 biolink:PhenotypicFeature HP:0030212 biolink:PhenotypicFeature HP:0045025 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature Orphanet:890 biolink:Disease Hepatic veno-occlusive disease HP:0000083 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003573 biolink:PhenotypicFeature HP:0004324 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0003645 biolink:PhenotypicFeature HP:0002480 biolink:PhenotypicFeature Orphanet:330021 biolink:Disease Mercury poisoning HP:0000822 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002572 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0006515 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature Orphanet:232 biolink:Disease Sickle cell anemia HP:0004870 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001743 biolink:PhenotypicFeature HP:0001891 biolink:PhenotypicFeature HP:0001894 biolink:PhenotypicFeature HP:0001923 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0011981 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0002597 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0008282 biolink:PhenotypicFeature HP:0011904 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0001931 biolink:PhenotypicFeature HP:0001935 biolink:PhenotypicFeature HP:0005518 biolink:PhenotypicFeature Orphanet:93333 biolink:Disease Pelviscapular dysplasia HP:0000256 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000882 biolink:PhenotypicFeature HP:0000946 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003041 biolink:PhenotypicFeature HP:0003097 biolink:PhenotypicFeature HP:0003943 biolink:PhenotypicFeature HP:0004987 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0002693 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000402 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0005989 biolink:PhenotypicFeature Orphanet:96176 biolink:Disease Ring chromosome 13 syndrome HP:0000252 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000832 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005927 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000676 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002323 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0011301 biolink:PhenotypicFeature HP:0012211 biolink:PhenotypicFeature HP:0030032 biolink:PhenotypicFeature HP:0100779 biolink:PhenotypicFeature HP:0000479 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0003256 biolink:PhenotypicFeature HP:0005233 biolink:PhenotypicFeature HP:0009919 biolink:PhenotypicFeature Orphanet:96168 biolink:Disease Monosomy 13q34 HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0003256 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000363 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002573 biolink:PhenotypicFeature HP:0003645 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0010945 biolink:PhenotypicFeature HP:0011228 biolink:PhenotypicFeature HP:0011565 biolink:PhenotypicFeature HP:0100608 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001830 biolink:PhenotypicFeature HP:0008250 biolink:PhenotypicFeature HP:0040180 biolink:PhenotypicFeature HP:0040188 biolink:PhenotypicFeature Orphanet:210128 biolink:Disease Urocanic aciduria HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002345 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0007979 biolink:PhenotypicFeature HP:0010904 biolink:PhenotypicFeature HP:0012237 biolink:PhenotypicFeature Orphanet:261311 biolink:Disease 20q13.33 microdeletion syndrome HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0002813 biolink:PhenotypicFeature HP:0012520 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0006385 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000297 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000460 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001713 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002188 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002573 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0006709 biolink:PhenotypicFeature HP:0009899 biolink:PhenotypicFeature HP:0012304 biolink:PhenotypicFeature HP:0012858 biolink:PhenotypicFeature Orphanet:289522 biolink:Disease Microtriplication 11q24.1 HP:0000280 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000563 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0003763 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006316 biolink:PhenotypicFeature HP:0009907 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0011822 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0006951 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature Orphanet:2255 biolink:Disease Pancreatic hypoplasia-diabetes-congenital heart disease syndrome HP:0000857 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001738 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0002254 biolink:PhenotypicFeature HP:0002594 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature HP:0100801 biolink:PhenotypicFeature HP:0000851 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001669 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0003645 biolink:PhenotypicFeature HP:0004415 biolink:PhenotypicFeature HP:0004762 biolink:PhenotypicFeature HP:0011573 biolink:PhenotypicFeature HP:0011581 biolink:PhenotypicFeature HP:0000073 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000891 biolink:PhenotypicFeature HP:0001195 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0005912 biolink:PhenotypicFeature HP:0010626 biolink:PhenotypicFeature HP:0011466 biolink:PhenotypicFeature HP:0011611 biolink:PhenotypicFeature HP:0011628 biolink:PhenotypicFeature HP:0040196 biolink:PhenotypicFeature Orphanet:139466 biolink:Disease SERKAL syndrome HP:0000104 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0012245 biolink:PhenotypicFeature HP:0000036 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000834 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0004794 biolink:PhenotypicFeature HP:0005343 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature Orphanet:2382 biolink:Disease Lennox-Gastaut syndrome HP:0001249 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0011195 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature HP:0007270 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0012075 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature Orphanet:217266 biolink:Disease BNAR syndrome HP:0011803 biolink:PhenotypicFeature HP:0000200 biolink:PhenotypicFeature HP:0001545 biolink:PhenotypicFeature HP:0002025 biolink:PhenotypicFeature HP:0010322 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0012252 biolink:PhenotypicFeature Orphanet:803 biolink:Disease Amyotrophic lateral sclerosis HP:0007354 biolink:PhenotypicFeature HP:0002180 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0007373 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002795 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0030192 biolink:PhenotypicFeature HP:0030195 biolink:PhenotypicFeature HP:0030196 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0025425 biolink:PhenotypicFeature Orphanet:3246 biolink:Disease Symphalangism with multiple anomalies of hands and feet HP:0004197 biolink:PhenotypicFeature HP:0004218 biolink:PhenotypicFeature HP:0006019 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0001032 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001245 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0005807 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0009700 biolink:PhenotypicFeature HP:0010179 biolink:PhenotypicFeature HP:0010182 biolink:PhenotypicFeature HP:0010487 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0001018 biolink:PhenotypicFeature HP:0005650 biolink:PhenotypicFeature HP:0006143 biolink:PhenotypicFeature HP:0010103 biolink:PhenotypicFeature HP:0100371 biolink:PhenotypicFeature Orphanet:3168 biolink:Disease Sillence syndrome HP:0008419 biolink:PhenotypicFeature HP:0008818 biolink:PhenotypicFeature HP:0009381 biolink:PhenotypicFeature HP:0009832 biolink:PhenotypicFeature HP:0009834 biolink:PhenotypicFeature HP:0010052 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003180 biolink:PhenotypicFeature HP:0005819 biolink:PhenotypicFeature HP:0010239 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000300 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001533 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001782 biolink:PhenotypicFeature HP:0001783 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0004679 biolink:PhenotypicFeature HP:0006170 biolink:PhenotypicFeature Orphanet:13 biolink:Disease 6-pyruvoyl-tetrahydropterin synthase deficiency HP:0001332 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0002179 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000711 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature HP:0003781 biolink:PhenotypicFeature HP:0010553 biolink:PhenotypicFeature Orphanet:293964 biolink:Disease Hypoinsulinemic hypoglycemia and body hemihypertrophy HP:0001528 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0001325 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0001958 biolink:PhenotypicFeature HP:0001985 biolink:PhenotypicFeature HP:0001998 biolink:PhenotypicFeature HP:0002173 biolink:PhenotypicFeature HP:0006568 biolink:PhenotypicFeature HP:0030812 biolink:PhenotypicFeature HP:0040215 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0030781 biolink:PhenotypicFeature Orphanet:306550 biolink:Disease FADD-related immunodeficiency HP:0001250 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0004935 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature Orphanet:300179 biolink:Disease Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency HP:0000407 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0006829 biolink:PhenotypicFeature HP:0007502 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature HP:0012374 biolink:PhenotypicFeature HP:0025019 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature Orphanet:263458 biolink:Disease Hyperinsulinism due to INSR deficiency HP:0000825 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001988 biolink:PhenotypicFeature HP:0008283 biolink:PhenotypicFeature HP:0030794 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature Orphanet:158 biolink:Disease Systemic primary carnitine deficiency HP:0000467 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0006846 biolink:PhenotypicFeature HP:0007334 biolink:PhenotypicFeature Orphanet:158008 biolink:Disease Papular xanthoma HP:0001013 biolink:PhenotypicFeature HP:0100727 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature Orphanet:276152 biolink:Disease Multiple endocrine neoplasia type 4 HP:0000818 biolink:PhenotypicFeature HP:0000843 biolink:PhenotypicFeature HP:0002897 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0003165 biolink:PhenotypicFeature HP:0008208 biolink:PhenotypicFeature HP:0000825 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0000854 biolink:PhenotypicFeature HP:0001031 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002044 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature HP:0004398 biolink:PhenotypicFeature HP:0006767 biolink:PhenotypicFeature HP:0006772 biolink:PhenotypicFeature HP:0008256 biolink:PhenotypicFeature HP:0008283 biolink:PhenotypicFeature HP:0010615 biolink:PhenotypicFeature HP:0011760 biolink:PhenotypicFeature HP:0011761 biolink:PhenotypicFeature HP:0012091 biolink:PhenotypicFeature HP:0012197 biolink:PhenotypicFeature HP:0030445 biolink:PhenotypicFeature HP:0100633 biolink:PhenotypicFeature HP:0100634 biolink:PhenotypicFeature HP:0001578 biolink:PhenotypicFeature HP:0006780 biolink:PhenotypicFeature HP:0007449 biolink:PhenotypicFeature HP:0008291 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0010788 biolink:PhenotypicFeature HP:0012030 biolink:PhenotypicFeature HP:0012334 biolink:PhenotypicFeature HP:0030079 biolink:PhenotypicFeature HP:0030688 biolink:PhenotypicFeature HP:0100570 biolink:PhenotypicFeature HP:0100522 biolink:PhenotypicFeature Orphanet:96123 biolink:Disease Monosomy 22 HP:0000194 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000606 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002858 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0045025 biolink:PhenotypicFeature HP:0100008 biolink:PhenotypicFeature HP:0100242 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001051 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001217 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0004840 biolink:PhenotypicFeature HP:0005272 biolink:PhenotypicFeature HP:0005359 biolink:PhenotypicFeature HP:0005781 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0010541 biolink:PhenotypicFeature HP:0010785 biolink:PhenotypicFeature HP:0100324 biolink:PhenotypicFeature Orphanet:171866 biolink:Disease Spondyloepimetaphyseal dysplasia, aggrecan type HP:0005285 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001552 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0003027 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0002795 biolink:PhenotypicFeature Orphanet:263463 biolink:Disease CHST3-related skeletal dysplasia HP:0000316 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001552 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002945 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0003037 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003521 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0010582 biolink:PhenotypicFeature HP:0010585 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature Orphanet:217622 biolink:Disease Sensorineural deafness with dilated cardiomyopathy HP:0000365 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0030872 biolink:PhenotypicFeature HP:0040268 biolink:PhenotypicFeature Orphanet:335 biolink:Disease Congenital fibrinogen deficiency HP:0000054 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001667 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001933 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002179 biolink:PhenotypicFeature HP:0002580 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0009723 biolink:PhenotypicFeature HP:0011029 biolink:PhenotypicFeature HP:0011884 biolink:PhenotypicFeature HP:0012223 biolink:PhenotypicFeature HP:0012886 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0100759 biolink:PhenotypicFeature HP:0100845 biolink:PhenotypicFeature Orphanet:2134 biolink:Disease Atypical hemolytic uremic syndrome HP:0000093 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001871 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0001937 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0045040 biolink:PhenotypicFeature HP:0004431 biolink:PhenotypicFeature HP:0005339 biolink:PhenotypicFeature HP:0005356 biolink:PhenotypicFeature HP:0005416 biolink:PhenotypicFeature HP:0040229 biolink:PhenotypicFeature Orphanet:3166 biolink:Disease Sialuria HP:0000219 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000629 biolink:PhenotypicFeature HP:0000943 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001847 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002474 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002781 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003645 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0008443 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0012103 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature Orphanet:370091 biolink:Disease Oculocutaneous albinism type 5 HP:0000218 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001098 biolink:PhenotypicFeature HP:0001107 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007750 biolink:PhenotypicFeature Orphanet:439218 biolink:Disease KCNQ2-related epileptic encephalopathy HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0010851 biolink:PhenotypicFeature HP:0200134 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001041 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002181 biolink:PhenotypicFeature HP:0002453 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0007015 biolink:PhenotypicFeature HP:0011097 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012736 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature Orphanet:95619 biolink:Disease Post-traumatic pituitary deficiency HP:0000044 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002920 biolink:PhenotypicFeature HP:0005625 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0040086 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000863 biolink:PhenotypicFeature HP:0000871 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0009888 biolink:PhenotypicFeature HP:0010311 biolink:PhenotypicFeature Orphanet:308 biolink:Disease Progressive myoclonic epilepsy type 1 HP:0001336 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002392 biolink:PhenotypicFeature HP:0007000 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:171 biolink:Disease Primary sclerosing cholangitis HP:0001396 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0012440 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0010638 biolink:PhenotypicFeature HP:0012522 biolink:PhenotypicFeature HP:0012700 biolink:PhenotypicFeature HP:0030168 biolink:PhenotypicFeature HP:0100279 biolink:PhenotypicFeature HP:0100869 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002608 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003459 biolink:PhenotypicFeature HP:0003700 biolink:PhenotypicFeature HP:0004905 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0011892 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030153 biolink:PhenotypicFeature HP:0040275 biolink:PhenotypicFeature HP:0100512 biolink:PhenotypicFeature HP:0100513 biolink:PhenotypicFeature HP:0100626 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0006554 biolink:PhenotypicFeature HP:0100575 biolink:PhenotypicFeature HP:0001879 biolink:PhenotypicFeature HP:0005429 biolink:PhenotypicFeature HP:0011034 biolink:PhenotypicFeature HP:0100727 biolink:PhenotypicFeature Orphanet:90156 biolink:Disease Centrifugal lipodystrophy HP:0100578 biolink:PhenotypicFeature HP:0003758 biolink:PhenotypicFeature HP:0007485 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0002840 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0005320 biolink:PhenotypicFeature Orphanet:90159 biolink:Disease Panniculitis-induced localized lipodystrophy HP:0100578 biolink:PhenotypicFeature HP:0003758 biolink:PhenotypicFeature HP:0007485 biolink:PhenotypicFeature HP:0010701 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0200029 biolink:PhenotypicFeature Orphanet:96170 biolink:Disease Emanuel syndrome HP:0001263 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000692 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0001195 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001660 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002562 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0005815 biolink:PhenotypicFeature HP:0009765 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012802 biolink:PhenotypicFeature HP:0030820 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001623 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0003028 biolink:PhenotypicFeature HP:0005401 biolink:PhenotypicFeature HP:0005989 biolink:PhenotypicFeature HP:0009101 biolink:PhenotypicFeature HP:0012714 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature Orphanet:3310 biolink:Disease Tetrasomy 9p HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000363 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0003683 biolink:PhenotypicFeature HP:0030434 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000532 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000798 biolink:PhenotypicFeature HP:0000882 biolink:PhenotypicFeature HP:0000921 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001528 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002143 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0005912 biolink:PhenotypicFeature HP:0006710 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008501 biolink:PhenotypicFeature HP:0011044 biolink:PhenotypicFeature HP:0011467 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030031 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0040262 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000705 biolink:PhenotypicFeature HP:0000719 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001651 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0011646 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature Orphanet:43 biolink:Disease X-linked adrenoleukodystrophy HP:0000504 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001730 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0002311 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002385 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007199 biolink:PhenotypicFeature HP:0008969 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000734 biolink:PhenotypicFeature HP:0000846 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature HP:0003154 biolink:PhenotypicFeature HP:0008768 biolink:PhenotypicFeature HP:0011733 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature Orphanet:90160 biolink:Disease Pressure-induced localized lipoatrophy HP:0100578 biolink:PhenotypicFeature HP:0003758 biolink:PhenotypicFeature HP:0011356 biolink:PhenotypicFeature HP:0007485 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature Orphanet:98807 biolink:Disease Primary dystonia, DYT13 type HP:0004373 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0007325 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0001304 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0006961 biolink:PhenotypicFeature HP:0012179 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002345 biolink:PhenotypicFeature Orphanet:1439 biolink:Disease Ring chromosome 12 syndrome HP:0001263 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000131 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000807 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001684 biolink:PhenotypicFeature HP:0001810 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0003187 biolink:PhenotypicFeature HP:0004207 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009656 biolink:PhenotypicFeature Orphanet:289176 biolink:Disease Autosomal recessive hypophosphatemic rickets HP:0004912 biolink:PhenotypicFeature HP:0000117 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002749 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0003020 biolink:PhenotypicFeature HP:0003109 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004576 biolink:PhenotypicFeature HP:0005096 biolink:PhenotypicFeature HP:0005764 biolink:PhenotypicFeature HP:0006463 biolink:PhenotypicFeature HP:0008732 biolink:PhenotypicFeature HP:0010639 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0011036 biolink:PhenotypicFeature HP:0012052 biolink:PhenotypicFeature HP:0100511 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0100671 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002982 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0030757 biolink:PhenotypicFeature HP:0100036 biolink:PhenotypicFeature HP:0100686 biolink:PhenotypicFeature HP:0100781 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0003472 biolink:PhenotypicFeature Orphanet:54595 biolink:Disease Craniopharyngioma HP:0012286 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0010576 biolink:PhenotypicFeature HP:0011750 biolink:PhenotypicFeature HP:0012505 biolink:PhenotypicFeature HP:0040075 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000863 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0001085 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0003335 biolink:PhenotypicFeature HP:0007924 biolink:PhenotypicFeature HP:0007987 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature HP:0011734 biolink:PhenotypicFeature HP:0030521 biolink:PhenotypicFeature HP:0030588 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0003508 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001117 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0010939 biolink:PhenotypicFeature HP:0430000 biolink:PhenotypicFeature Orphanet:91354 biolink:Disease Pituitary deficiency due to empty sella turcica syndrome HP:0000802 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002921 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature HP:0011446 biolink:PhenotypicFeature HP:0011748 biolink:PhenotypicFeature HP:0030532 biolink:PhenotypicFeature HP:0040075 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000863 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0100661 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature Orphanet:97230 biolink:Disease Solar urticaria HP:0000159 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0030809 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0100326 biolink:PhenotypicFeature HP:0100539 biolink:PhenotypicFeature HP:0100665 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0011971 biolink:PhenotypicFeature HP:0100845 biolink:PhenotypicFeature Orphanet:98895 biolink:Disease Becker muscular dystrophy HP:0002355 biolink:PhenotypicFeature HP:0002913 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0012086 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature Orphanet:91350 biolink:Disease Pituitary deficiency due to Rathke cleft cysts HP:0040075 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0007924 biolink:PhenotypicFeature HP:0012505 biolink:PhenotypicFeature HP:0030521 biolink:PhenotypicFeature HP:0030591 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000830 biolink:PhenotypicFeature HP:0000871 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0007807 biolink:PhenotypicFeature HP:0008240 biolink:PhenotypicFeature HP:0011735 biolink:PhenotypicFeature HP:0012246 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature HP:0030907 biolink:PhenotypicFeature HP:0430022 biolink:PhenotypicFeature Orphanet:199244 biolink:Disease Nelson syndrome HP:0011744 biolink:PhenotypicFeature HP:0011749 biolink:PhenotypicFeature HP:0003118 biolink:PhenotypicFeature HP:0008291 biolink:PhenotypicFeature HP:0012030 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001065 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0007924 biolink:PhenotypicFeature HP:0030521 biolink:PhenotypicFeature HP:0030591 biolink:PhenotypicFeature HP:0000830 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0007807 biolink:PhenotypicFeature HP:0009050 biolink:PhenotypicFeature HP:0012246 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0010788 biolink:PhenotypicFeature HP:0011763 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature HP:0430022 biolink:PhenotypicFeature Orphanet:243343 biolink:Disease Dimethylglycine dehydrogenase deficiency HP:0001939 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003750 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0410020 biolink:PhenotypicFeature Orphanet:643 biolink:Disease Giant axonal neuropathy HP:0001284 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0002235 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003405 biolink:PhenotypicFeature HP:0003429 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0005109 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002224 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0005922 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0003690 biolink:PhenotypicFeature HP:0012503 biolink:PhenotypicFeature Orphanet:247257 biolink:Disease Inhalational anthrax HP:0000971 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0011159 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002546 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0011029 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:1299 biolink:Disease Branchioskeletogenital syndrome HP:0000193 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000607 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000808 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002679 biolink:PhenotypicFeature HP:0002684 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008516 biolink:PhenotypicFeature HP:0009748 biolink:PhenotypicFeature HP:0009907 biolink:PhenotypicFeature HP:0010299 biolink:PhenotypicFeature HP:0010724 biolink:PhenotypicFeature HP:0010749 biolink:PhenotypicFeature HP:0011072 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100334 biolink:PhenotypicFeature HP:0430026 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000410 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0003423 biolink:PhenotypicFeature HP:0006480 biolink:PhenotypicFeature HP:0000071 biolink:PhenotypicFeature HP:0000625 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0000042 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001545 biolink:PhenotypicFeature HP:0002561 biolink:PhenotypicFeature HP:0002836 biolink:PhenotypicFeature HP:0009814 biolink:PhenotypicFeature HP:0009818 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature Orphanet:676 biolink:Disease Hereditary chronic pancreatitis HP:0001974 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0100027 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0005213 biolink:PhenotypicFeature HP:0030247 biolink:PhenotypicFeature Orphanet:370943 biolink:Disease Autism spectrum disorder-epilepsy-arthrogryposis syndrome HP:0000729 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0004976 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001765 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:370097 biolink:Disease Oculocutaneous albinism type 6 HP:0000613 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001098 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0008034 biolink:PhenotypicFeature HP:0008059 biolink:PhenotypicFeature HP:0030613 biolink:PhenotypicFeature Orphanet:398173 biolink:Disease Focal facial dermal dysplasia type II HP:0000369 biolink:PhenotypicFeature HP:0001128 biolink:PhenotypicFeature HP:0002055 biolink:PhenotypicFeature HP:0009743 biolink:PhenotypicFeature HP:0011336 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0000385 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0004554 biolink:PhenotypicFeature HP:0007651 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000387 biolink:PhenotypicFeature HP:0000394 biolink:PhenotypicFeature Orphanet:280062 biolink:Disease Calciphylaxis HP:0000867 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0002905 biolink:PhenotypicFeature HP:0003207 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0011122 biolink:PhenotypicFeature HP:0011986 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:391665 biolink:Disease Homozygous familial hypercholesterolemia HP:0003077 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003141 biolink:PhenotypicFeature HP:0004416 biolink:PhenotypicFeature HP:0005177 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0001920 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0004928 biolink:PhenotypicFeature HP:0004929 biolink:PhenotypicFeature HP:0005162 biolink:PhenotypicFeature HP:0005181 biolink:PhenotypicFeature HP:0006693 biolink:PhenotypicFeature HP:0007201 biolink:PhenotypicFeature HP:0012397 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0100261 biolink:PhenotypicFeature HP:3000062 biolink:PhenotypicFeature HP:0000799 biolink:PhenotypicFeature HP:0000991 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0004381 biolink:PhenotypicFeature HP:0004963 biolink:PhenotypicFeature HP:0010874 biolink:PhenotypicFeature HP:0001138 biolink:PhenotypicFeature HP:0012373 biolink:PhenotypicFeature HP:0012638 biolink:PhenotypicFeature HP:0030882 biolink:PhenotypicFeature Orphanet:444490 biolink:Disease Familial chylomicronemia syndrome HP:0002155 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0012238 biolink:PhenotypicFeature HP:0000660 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001735 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0100027 biolink:PhenotypicFeature HP:0001013 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0009789 biolink:PhenotypicFeature HP:0100851 biolink:PhenotypicFeature HP:0004416 biolink:PhenotypicFeature Orphanet:79506 biolink:Disease Cholesterol-ester transfer protein deficiency HP:0003077 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0010980 biolink:PhenotypicFeature HP:0012184 biolink:PhenotypicFeature HP:0012153 biolink:PhenotypicFeature HP:0004416 biolink:PhenotypicFeature HP:0010874 biolink:PhenotypicFeature Orphanet:71526 biolink:Disease Obesity due to pro-opiomelanocortin deficiency HP:0001513 biolink:PhenotypicFeature HP:0009126 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0002297 biolink:PhenotypicFeature HP:0008915 biolink:PhenotypicFeature HP:0011734 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002173 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0008213 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature Orphanet:71528 biolink:Disease Obesity due to prohormone convertase I deficiency HP:0001513 biolink:PhenotypicFeature HP:0009126 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0002297 biolink:PhenotypicFeature HP:0008915 biolink:PhenotypicFeature HP:0011734 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002173 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0008213 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature Orphanet:36913 biolink:Disease Autoimmune hypoparathyroidism HP:0011771 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002905 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002728 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003472 biolink:PhenotypicFeature HP:0003739 biolink:PhenotypicFeature HP:0004724 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0011458 biolink:PhenotypicFeature HP:0012049 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0001677 biolink:PhenotypicFeature HP:0002199 biolink:PhenotypicFeature HP:0004308 biolink:PhenotypicFeature HP:0005162 biolink:PhenotypicFeature Orphanet:79443 biolink:Disease Pseudohypoparathyroidism type 1A HP:0000737 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002176 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003472 biolink:PhenotypicFeature HP:0003739 biolink:PhenotypicFeature HP:0003761 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0004438 biolink:PhenotypicFeature HP:0009642 biolink:PhenotypicFeature HP:0010041 biolink:PhenotypicFeature HP:0011458 biolink:PhenotypicFeature HP:0011869 biolink:PhenotypicFeature HP:0012049 biolink:PhenotypicFeature HP:0025027 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0002199 biolink:PhenotypicFeature HP:0003528 biolink:PhenotypicFeature HP:0000852 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002905 biolink:PhenotypicFeature HP:0003165 biolink:PhenotypicFeature HP:0003456 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008227 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002135 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0002684 biolink:PhenotypicFeature HP:0004704 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0006960 biolink:PhenotypicFeature HP:0010027 biolink:PhenotypicFeature HP:0010044 biolink:PhenotypicFeature HP:0010047 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010743 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0011986 biolink:PhenotypicFeature HP:0012185 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000585 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0008202 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature Orphanet:94089 biolink:Disease Pseudohypoparathyroidism type 1B HP:0000852 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002905 biolink:PhenotypicFeature HP:0003165 biolink:PhenotypicFeature HP:0003456 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0003034 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003472 biolink:PhenotypicFeature HP:0003739 biolink:PhenotypicFeature HP:0003909 biolink:PhenotypicFeature HP:0005700 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0011458 biolink:PhenotypicFeature HP:0012049 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0002199 biolink:PhenotypicFeature HP:0008227 biolink:PhenotypicFeature HP:0003761 biolink:PhenotypicFeature HP:0010766 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature Orphanet:79444 biolink:Disease Pseudohypoparathyroidism type 1C HP:0000852 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002905 biolink:PhenotypicFeature HP:0003165 biolink:PhenotypicFeature HP:0003456 biolink:PhenotypicFeature HP:0008227 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002135 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004704 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0006960 biolink:PhenotypicFeature HP:0010044 biolink:PhenotypicFeature HP:0010047 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010743 biolink:PhenotypicFeature HP:0011986 biolink:PhenotypicFeature HP:0012185 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003472 biolink:PhenotypicFeature HP:0003739 biolink:PhenotypicFeature HP:0003761 biolink:PhenotypicFeature HP:0009642 biolink:PhenotypicFeature HP:0010041 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0011458 biolink:PhenotypicFeature HP:0012049 biolink:PhenotypicFeature HP:0025027 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0002199 biolink:PhenotypicFeature HP:0008202 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature Orphanet:94090 biolink:Disease Pseudohypoparathyroidism type 2 HP:0000852 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002905 biolink:PhenotypicFeature HP:0003165 biolink:PhenotypicFeature HP:0002199 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003472 biolink:PhenotypicFeature HP:0003739 biolink:PhenotypicFeature HP:0011458 biolink:PhenotypicFeature HP:0012049 biolink:PhenotypicFeature HP:0003456 biolink:PhenotypicFeature HP:0003761 biolink:PhenotypicFeature HP:0010766 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature Orphanet:77300 biolink:Disease Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0002002 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0007894 biolink:PhenotypicFeature HP:0010880 biolink:PhenotypicFeature HP:0100277 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0011340 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000891 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature Orphanet:2512 biolink:Disease Autosomal recessive primary microcephaly HP:0000219 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002282 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0007333 biolink:PhenotypicFeature Orphanet:227982 biolink:Disease Autoimmune polyendocrinopathy type 3 HP:0002960 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0001972 biolink:PhenotypicFeature HP:0002582 biolink:PhenotypicFeature HP:0002608 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0100647 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0002613 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0010625 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000863 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001094 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001370 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0001973 biolink:PhenotypicFeature HP:0003613 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0010451 biolink:PhenotypicFeature HP:0011771 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012220 biolink:PhenotypicFeature HP:0100522 biolink:PhenotypicFeature HP:0002728 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature Orphanet:227990 biolink:Disease Autoimmune polyendocrinopathy type 4 HP:0002960 biolink:PhenotypicFeature HP:0001972 biolink:PhenotypicFeature HP:0002582 biolink:PhenotypicFeature HP:0002608 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0002613 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0010625 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000863 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001094 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001370 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0001973 biolink:PhenotypicFeature HP:0003613 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0010451 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012220 biolink:PhenotypicFeature HP:0100522 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0002728 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature HP:0100647 biolink:PhenotypicFeature Orphanet:100085 biolink:Disease Primary hepatic neuroendocrine carcinoma HP:0000508 biolink:PhenotypicFeature HP:0001046 biolink:PhenotypicFeature HP:0004375 biolink:PhenotypicFeature HP:0005230 biolink:PhenotypicFeature HP:0002896 biolink:PhenotypicFeature HP:0100634 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0002730 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0012432 biolink:PhenotypicFeature HP:0001407 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002480 biolink:PhenotypicFeature HP:0003144 biolink:PhenotypicFeature HP:0007380 biolink:PhenotypicFeature HP:0025428 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0030166 biolink:PhenotypicFeature HP:0100570 biolink:PhenotypicFeature HP:0006575 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0010638 biolink:PhenotypicFeature HP:0012658 biolink:PhenotypicFeature HP:0030948 biolink:PhenotypicFeature HP:0100012 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature HP:0006254 biolink:PhenotypicFeature HP:0031029 biolink:PhenotypicFeature Orphanet:100086 biolink:Disease Gallbladder neuroendocrine tumor HP:0100574 biolink:PhenotypicFeature HP:0100634 biolink:PhenotypicFeature HP:0001046 biolink:PhenotypicFeature HP:0001082 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0002730 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0005230 biolink:PhenotypicFeature HP:0010638 biolink:PhenotypicFeature HP:0012334 biolink:PhenotypicFeature HP:0012432 biolink:PhenotypicFeature HP:0030948 biolink:PhenotypicFeature HP:0004375 biolink:PhenotypicFeature HP:0012658 biolink:PhenotypicFeature Orphanet:97287 biolink:Disease Bronchial neuroendocrine tumor HP:0030445 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002730 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0031246 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0001005 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0003118 biolink:PhenotypicFeature HP:0003144 biolink:PhenotypicFeature HP:0003154 biolink:PhenotypicFeature HP:0004385 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0007380 biolink:PhenotypicFeature HP:0012701 biolink:PhenotypicFeature HP:0025428 biolink:PhenotypicFeature HP:0030149 biolink:PhenotypicFeature HP:0030166 biolink:PhenotypicFeature HP:0031566 biolink:PhenotypicFeature Orphanet:100075 biolink:Disease Neuroendocrine tumor of stomach HP:0100570 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001891 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002254 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0001005 biolink:PhenotypicFeature HP:0002044 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002248 biolink:PhenotypicFeature HP:0002249 biolink:PhenotypicFeature HP:0002730 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0025085 biolink:PhenotypicFeature HP:0030145 biolink:PhenotypicFeature HP:0030446 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002668 biolink:PhenotypicFeature HP:0003144 biolink:PhenotypicFeature HP:0003154 biolink:PhenotypicFeature HP:0004385 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0007380 biolink:PhenotypicFeature HP:0012701 biolink:PhenotypicFeature HP:0025428 biolink:PhenotypicFeature HP:0030149 biolink:PhenotypicFeature HP:0031566 biolink:PhenotypicFeature Orphanet:1501 biolink:Disease Adrenocortical carcinoma HP:0006744 biolink:PhenotypicFeature HP:0000080 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000859 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001065 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0003118 biolink:PhenotypicFeature HP:0003466 biolink:PhenotypicFeature HP:0004324 biolink:PhenotypicFeature HP:0011748 biolink:PhenotypicFeature HP:0012030 biolink:PhenotypicFeature HP:0025134 biolink:PhenotypicFeature HP:0025269 biolink:PhenotypicFeature HP:0025380 biolink:PhenotypicFeature HP:0025436 biolink:PhenotypicFeature HP:0030078 biolink:PhenotypicFeature HP:0030348 biolink:PhenotypicFeature HP:0500022 biolink:PhenotypicFeature HP:0003110 biolink:PhenotypicFeature Orphanet:441 biolink:Disease Pure autonomic failure HP:0000970 biolink:PhenotypicFeature HP:0001278 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0012099 biolink:PhenotypicFeature HP:0025142 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature Orphanet:100083 biolink:Disease Laryngeal neuroendocrine tumor HP:0100605 biolink:PhenotypicFeature HP:0100634 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002730 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0003144 biolink:PhenotypicFeature HP:0003528 biolink:PhenotypicFeature HP:0012432 biolink:PhenotypicFeature HP:0200136 biolink:PhenotypicFeature HP:0011749 biolink:PhenotypicFeature HP:0031029 biolink:PhenotypicFeature HP:0031218 biolink:PhenotypicFeature Orphanet:79140 biolink:Disease Cutaneous neuroendocrine carcinoma HP:0030447 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0002730 biolink:PhenotypicFeature HP:0005374 biolink:PhenotypicFeature HP:0011356 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0025475 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0005526 biolink:PhenotypicFeature HP:0006739 biolink:PhenotypicFeature HP:0006775 biolink:PhenotypicFeature HP:0100570 biolink:PhenotypicFeature HP:0012658 biolink:PhenotypicFeature HP:0030692 biolink:PhenotypicFeature HP:0040095 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature Orphanet:100080 biolink:Disease Neuroendocrine tumor of the colon HP:0100570 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002730 biolink:PhenotypicFeature HP:0025085 biolink:PhenotypicFeature HP:0030144 biolink:PhenotypicFeature HP:0030446 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002249 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003144 biolink:PhenotypicFeature HP:0004385 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0007380 biolink:PhenotypicFeature HP:0012701 biolink:PhenotypicFeature HP:0025428 biolink:PhenotypicFeature HP:0030145 biolink:PhenotypicFeature HP:0031566 biolink:PhenotypicFeature Orphanet:100079 biolink:Disease Neuroendocrine neoplasm of appendix HP:0006723 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0005249 biolink:PhenotypicFeature HP:0010676 biolink:PhenotypicFeature HP:0011848 biolink:PhenotypicFeature HP:0012701 biolink:PhenotypicFeature HP:0030142 biolink:PhenotypicFeature HP:0030144 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002730 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003148 biolink:PhenotypicFeature HP:0004385 biolink:PhenotypicFeature HP:0030412 biolink:PhenotypicFeature HP:0040276 biolink:PhenotypicFeature HP:0001579 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0003144 biolink:PhenotypicFeature HP:0005211 biolink:PhenotypicFeature HP:0010446 biolink:PhenotypicFeature HP:0011749 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0031499 biolink:PhenotypicFeature HP:0100615 biolink:PhenotypicFeature Orphanet:100082 biolink:Disease Neuroendocrine tumor of anal canal HP:0100570 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002573 biolink:PhenotypicFeature HP:0002730 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0012702 biolink:PhenotypicFeature HP:0025085 biolink:PhenotypicFeature HP:0030144 biolink:PhenotypicFeature HP:0030446 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002249 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0003144 biolink:PhenotypicFeature HP:0004385 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0007380 biolink:PhenotypicFeature HP:0012701 biolink:PhenotypicFeature HP:0025428 biolink:PhenotypicFeature HP:0030145 biolink:PhenotypicFeature HP:0031566 biolink:PhenotypicFeature Orphanet:100081 biolink:Disease Neuroendocrine tumor of the rectum HP:0100570 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002573 biolink:PhenotypicFeature HP:0012702 biolink:PhenotypicFeature HP:0025085 biolink:PhenotypicFeature HP:0030144 biolink:PhenotypicFeature HP:0030446 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002249 biolink:PhenotypicFeature HP:0002730 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0003144 biolink:PhenotypicFeature HP:0004385 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0007380 biolink:PhenotypicFeature HP:0012701 biolink:PhenotypicFeature HP:0025428 biolink:PhenotypicFeature HP:0030145 biolink:PhenotypicFeature HP:0031566 biolink:PhenotypicFeature Orphanet:3404 biolink:Disease Ulbright-Hodes syndrome HP:0000028 biolink:PhenotypicFeature HP:0000036 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000113 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000773 biolink:PhenotypicFeature HP:0000811 biolink:PhenotypicFeature HP:0000879 biolink:PhenotypicFeature HP:0000883 biolink:PhenotypicFeature HP:0001195 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002009 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0002990 biolink:PhenotypicFeature HP:0003027 biolink:PhenotypicFeature HP:0003041 biolink:PhenotypicFeature HP:0003309 biolink:PhenotypicFeature HP:0003561 biolink:PhenotypicFeature HP:0003683 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005792 biolink:PhenotypicFeature HP:0006495 biolink:PhenotypicFeature HP:0008665 biolink:PhenotypicFeature HP:0008683 biolink:PhenotypicFeature HP:0008846 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0009829 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0011341 biolink:PhenotypicFeature HP:0040073 biolink:PhenotypicFeature HP:0040111 biolink:PhenotypicFeature Orphanet:2820 biolink:Disease Spastic paraplegia-nephritis-deafness syndrome HP:0000093 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0010550 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature Orphanet:2593 biolink:Disease Tubular aggregate myopathy HP:0003326 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003473 biolink:PhenotypicFeature HP:0030200 biolink:PhenotypicFeature HP:0100301 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0003687 biolink:PhenotypicFeature HP:0003554 biolink:PhenotypicFeature Orphanet:100093 biolink:Disease Carcinoid syndrome HP:0100570 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0004385 biolink:PhenotypicFeature HP:0006722 biolink:PhenotypicFeature HP:0006723 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0030166 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002730 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003144 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0007380 biolink:PhenotypicFeature HP:0009926 biolink:PhenotypicFeature HP:0025428 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0030445 biolink:PhenotypicFeature HP:0031138 biolink:PhenotypicFeature HP:0031417 biolink:PhenotypicFeature HP:0002605 biolink:PhenotypicFeature HP:0002668 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0030145 biolink:PhenotypicFeature HP:0030446 biolink:PhenotypicFeature Orphanet:2791 biolink:Disease Otodental syndrome HP:0000408 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0006479 biolink:PhenotypicFeature HP:0011070 biolink:PhenotypicFeature HP:0011078 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000326 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000679 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000704 biolink:PhenotypicFeature HP:0001757 biolink:PhenotypicFeature HP:0003771 biolink:PhenotypicFeature HP:0011051 biolink:PhenotypicFeature HP:0000480 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0011068 biolink:PhenotypicFeature HP:0031353 biolink:PhenotypicFeature HP:0100719 biolink:PhenotypicFeature Orphanet:2890 biolink:Disease Pili torti-onychodysplasia syndrome HP:0000968 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000561 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002223 biolink:PhenotypicFeature HP:0002289 biolink:PhenotypicFeature HP:0002299 biolink:PhenotypicFeature HP:0002552 biolink:PhenotypicFeature HP:0007439 biolink:PhenotypicFeature HP:0008394 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0010562 biolink:PhenotypicFeature HP:0012725 biolink:PhenotypicFeature HP:0030953 biolink:PhenotypicFeature HP:0410030 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature Orphanet:708 biolink:Disease Peters anomaly HP:0000659 biolink:PhenotypicFeature HP:0000523 biolink:PhenotypicFeature HP:0007759 biolink:PhenotypicFeature HP:0011483 biolink:PhenotypicFeature HP:0011493 biolink:PhenotypicFeature HP:0031159 biolink:PhenotypicFeature HP:0001087 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature Orphanet:2839 biolink:Disease Pelvis-shoulder dysplasia HP:0005775 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000171 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000480 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000890 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001591 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002324 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0003083 biolink:PhenotypicFeature HP:0003173 biolink:PhenotypicFeature HP:0003175 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005026 biolink:PhenotypicFeature HP:0005613 biolink:PhenotypicFeature HP:0005769 biolink:PhenotypicFeature HP:0006077 biolink:PhenotypicFeature HP:0006492 biolink:PhenotypicFeature HP:0006710 biolink:PhenotypicFeature HP:0006712 biolink:PhenotypicFeature HP:0006713 biolink:PhenotypicFeature HP:0007633 biolink:PhenotypicFeature HP:0008472 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008807 biolink:PhenotypicFeature HP:0008857 biolink:PhenotypicFeature HP:0009100 biolink:PhenotypicFeature HP:0009937 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0040111 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:263494 biolink:Disease DPM3-CDG HP:0012363 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002401 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0003560 biolink:PhenotypicFeature HP:0003749 biolink:PhenotypicFeature HP:0003805 biolink:PhenotypicFeature HP:0008331 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:263501 biolink:Disease COG4-CDG HP:0012347 biolink:PhenotypicFeature HP:0012358 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002254 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0003256 biolink:PhenotypicFeature HP:0006892 biolink:PhenotypicFeature HP:0008935 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0011172 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012301 biolink:PhenotypicFeature HP:0100874 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0004798 biolink:PhenotypicFeature HP:0006583 biolink:PhenotypicFeature HP:0040187 biolink:PhenotypicFeature Orphanet:397725 biolink:Disease COASY protein-associated neurodegeneration HP:0000722 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002339 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002453 biolink:PhenotypicFeature HP:0002454 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0010663 biolink:PhenotypicFeature HP:0010994 biolink:PhenotypicFeature HP:0012048 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:363710 biolink:Disease Spinocerebellar ataxia type 37 HP:0000549 biolink:PhenotypicFeature HP:0002396 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002168 biolink:PhenotypicFeature HP:0002406 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature HP:0100275 biolink:PhenotypicFeature Orphanet:277 biolink:Disease Severe combined immunodeficiency due to adenosine deaminase deficiency HP:0000246 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0002849 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature HP:0005354 biolink:PhenotypicFeature HP:0005368 biolink:PhenotypicFeature HP:0005390 biolink:PhenotypicFeature HP:0005403 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0010444 biolink:PhenotypicFeature HP:0010976 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0012393 biolink:PhenotypicFeature HP:0025379 biolink:PhenotypicFeature HP:0030813 biolink:PhenotypicFeature Orphanet:2274 biolink:Disease Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome HP:0000726 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature Orphanet:85327 biolink:Disease X-linked intellectual disability-acromegaly-hyperactivity syndrome HP:0009745 biolink:PhenotypicFeature HP:0030353 biolink:PhenotypicFeature HP:0003564 biolink:PhenotypicFeature HP:0000053 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0003189 biolink:PhenotypicFeature HP:0007361 biolink:PhenotypicFeature Orphanet:263297 biolink:Disease Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HP:0001638 biolink:PhenotypicFeature HP:0001663 biolink:PhenotypicFeature HP:0001714 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0003547 biolink:PhenotypicFeature HP:0003722 biolink:PhenotypicFeature HP:0004756 biolink:PhenotypicFeature HP:0005144 biolink:PhenotypicFeature HP:0009023 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0010872 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011712 biolink:PhenotypicFeature HP:0012251 biolink:PhenotypicFeature HP:0012270 biolink:PhenotypicFeature HP:0031319 biolink:PhenotypicFeature HP:0040014 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0040081 biolink:PhenotypicFeature Orphanet:3472 biolink:Disease Yunis-Varon syndrome HP:0009881 biolink:PhenotypicFeature HP:0010102 biolink:PhenotypicFeature HP:0010107 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000188 biolink:PhenotypicFeature HP:0000216 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000647 biolink:PhenotypicFeature HP:0000653 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001525 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002139 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002529 biolink:PhenotypicFeature HP:0002696 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004331 biolink:PhenotypicFeature HP:0005793 biolink:PhenotypicFeature HP:0005819 biolink:PhenotypicFeature HP:0005989 biolink:PhenotypicFeature HP:0006323 biolink:PhenotypicFeature HP:0006628 biolink:PhenotypicFeature HP:0006709 biolink:PhenotypicFeature HP:0006710 biolink:PhenotypicFeature HP:0007333 biolink:PhenotypicFeature HP:0007633 biolink:PhenotypicFeature HP:0008386 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0008935 biolink:PhenotypicFeature HP:0009381 biolink:PhenotypicFeature HP:0009777 biolink:PhenotypicFeature HP:0010035 biolink:PhenotypicFeature HP:0010067 biolink:PhenotypicFeature HP:0010537 biolink:PhenotypicFeature HP:0011061 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0012294 biolink:PhenotypicFeature HP:0040111 biolink:PhenotypicFeature HP:0040163 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000059 biolink:PhenotypicFeature HP:0000162 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000773 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001920 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0003015 biolink:PhenotypicFeature HP:0004993 biolink:PhenotypicFeature HP:0006713 biolink:PhenotypicFeature HP:0008665 biolink:PhenotypicFeature HP:0010880 biolink:PhenotypicFeature HP:0012809 biolink:PhenotypicFeature HP:0030816 biolink:PhenotypicFeature HP:0100817 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature Orphanet:1171 biolink:Disease Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome HP:0000407 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:360 biolink:Disease Glioblastoma HP:0100843 biolink:PhenotypicFeature HP:0025461 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001575 biolink:PhenotypicFeature HP:0002181 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012638 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature Orphanet:2032 biolink:Disease Idiopathic pulmonary fibrosis HP:0006530 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025175 biolink:PhenotypicFeature HP:0025179 biolink:PhenotypicFeature HP:0025390 biolink:PhenotypicFeature HP:0030830 biolink:PhenotypicFeature HP:0100759 biolink:PhenotypicFeature HP:0010444 biolink:PhenotypicFeature Orphanet:3258 biolink:Disease Cenani-Lenz syndrome HP:0002007 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0012165 biolink:PhenotypicFeature HP:0100240 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001802 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001817 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001849 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004736 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature Orphanet:3248 biolink:Disease Distal symphalangism HP:0005048 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0009773 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:2306 biolink:Disease Isotretinoin-like syndrome HP:0008551 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000932 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001710 biolink:PhenotypicFeature HP:0001713 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0004495 biolink:PhenotypicFeature HP:0005120 biolink:PhenotypicFeature HP:0005301 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0008774 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0011718 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012303 biolink:PhenotypicFeature HP:0009892 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature Orphanet:2871 biolink:Disease Pfeiffer-Palm-Teller syndrome HP:0000286 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0040111 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature Orphanet:436271 biolink:Disease Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy HP:0006980 biolink:PhenotypicFeature HP:0007133 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000124 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001994 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0003076 biolink:PhenotypicFeature HP:0003109 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0006555 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0030195 biolink:PhenotypicFeature HP:0040291 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature Orphanet:2872 biolink:Disease Cardiocranial syndrome, Pfeiffer type HP:0000368 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001238 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0004442 biolink:PhenotypicFeature HP:0012478 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000289 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002778 biolink:PhenotypicFeature HP:0002876 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006191 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008112 biolink:PhenotypicFeature HP:0009540 biolink:PhenotypicFeature HP:0010487 biolink:PhenotypicFeature HP:0010621 biolink:PhenotypicFeature HP:0010721 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature Orphanet:3408 biolink:Disease Upington disease HP:0002829 biolink:PhenotypicFeature HP:0003365 biolink:PhenotypicFeature HP:0003370 biolink:PhenotypicFeature HP:0006429 biolink:PhenotypicFeature HP:0010588 biolink:PhenotypicFeature HP:0030038 biolink:PhenotypicFeature Orphanet:3242 biolink:Disease Renpenning syndrome HP:0000252 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000274 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0045074 biolink:PhenotypicFeature HP:0100830 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001572 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0003328 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature HP:0010761 biolink:PhenotypicFeature HP:0030853 biolink:PhenotypicFeature Orphanet:3239 biolink:Disease Deafness-vitiligo-achalasia syndrome HP:0000407 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002571 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature Orphanet:3238 biolink:Disease Cardiospondylocarpofacial syndrome HP:0000405 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0000692 biolink:PhenotypicFeature HP:0006352 biolink:PhenotypicFeature Orphanet:3237 biolink:Disease Multiple synostoses syndrome HP:0000405 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0009773 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature Orphanet:3226 biolink:Disease Deafness-lymphedema-leukemia syndrome HP:0000407 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002488 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003010 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0011991 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0100724 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0005547 biolink:PhenotypicFeature Orphanet:3224 biolink:Disease Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome HP:0000047 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002334 biolink:PhenotypicFeature HP:0005105 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0010109 biolink:PhenotypicFeature Orphanet:3222 biolink:Disease Phosphoribosylpyrophosphate synthetase superactivity HP:0000407 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0040290 biolink:PhenotypicFeature Orphanet:3220 biolink:Disease Deafness-enamel hypoplasia-nail defects syndrome HP:0001231 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0003777 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0011362 biolink:PhenotypicFeature HP:0045074 biolink:PhenotypicFeature HP:0100643 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0009890 biolink:PhenotypicFeature HP:0010547 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000614 biolink:PhenotypicFeature HP:0000679 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature Orphanet:3217 biolink:Disease Deafness-small bowel diverticulosis-neuropathy syndrome HP:0000407 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0002570 biolink:PhenotypicFeature HP:0002588 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000600 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature Orphanet:2818 biolink:Disease Spastic paraplegia-glaucoma-intellectual disability syndrome HP:0000501 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0010550 biolink:PhenotypicFeature Orphanet:2819 biolink:Disease Spastic paraplegia-facial-cutaneous lesions syndrome HP:0000953 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0010550 biolink:PhenotypicFeature Orphanet:2400 biolink:Disease Peripheral motor neuropathy-dysautonomia syndrome HP:0000975 biolink:PhenotypicFeature HP:0001063 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002571 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature Orphanet:2571 biolink:Disease X-linked immunoneurologic disorder HP:0000009 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0008348 biolink:PhenotypicFeature HP:0012638 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0002103 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature Orphanet:2023 biolink:Disease Undifferentiated pleomorphic sarcoma HP:0002585 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0030448 biolink:PhenotypicFeature HP:0500014 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:5 biolink:Disease Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency HP:0000613 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001985 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001939 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000532 biolink:PhenotypicFeature HP:0000533 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002611 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0030856 biolink:PhenotypicFeature Orphanet:2669 biolink:Disease Nephrosis-deafness-urinary tract-digital malformations syndrome HP:0000079 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0008071 biolink:PhenotypicFeature HP:0009611 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0010097 biolink:PhenotypicFeature Orphanet:3369 biolink:Disease Trigonocephaly-short stature-developmental delay syndrome HP:0000431 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000216 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000237 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0003683 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0005494 biolink:PhenotypicFeature HP:0005495 biolink:PhenotypicFeature HP:0005769 biolink:PhenotypicFeature HP:0007930 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011324 biolink:PhenotypicFeature Orphanet:2399 biolink:Disease Nasopalpebral lipoma-coloboma syndrome HP:0000506 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0001012 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000349 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000437 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0007820 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008850 biolink:PhenotypicFeature HP:0009926 biolink:PhenotypicFeature HP:0030670 biolink:PhenotypicFeature HP:0030953 biolink:PhenotypicFeature HP:0031111 biolink:PhenotypicFeature HP:0040164 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0000378 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0007633 biolink:PhenotypicFeature HP:3000022 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature Orphanet:3327 biolink:Disease Thyrocerebrorenal syndrome HP:0000083 biolink:PhenotypicFeature HP:0000123 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002470 biolink:PhenotypicFeature HP:0009127 biolink:PhenotypicFeature HP:0009798 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:422 biolink:Disease Idiopathic/heritable pulmonary arterial hypertension HP:0002092 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0011025 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0005133 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0030848 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature Orphanet:747 biolink:Disease Autoimmune pulmonary alveolar proteinosis HP:0006517 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001217 biolink:PhenotypicFeature HP:0002087 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002111 biolink:PhenotypicFeature HP:0003651 biolink:PhenotypicFeature HP:0010876 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0045051 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025391 biolink:PhenotypicFeature HP:0030830 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:2278 biolink:Disease Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome HP:0001249 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0007479 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature Orphanet:2876 biolink:Disease PHAVER syndrome HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001059 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003316 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0004935 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0009906 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0012304 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:93324 biolink:Disease Autosomal recessive Kenny-Caffey syndrome HP:0002199 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0008198 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000883 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003472 biolink:PhenotypicFeature HP:0004331 biolink:PhenotypicFeature HP:0005450 biolink:PhenotypicFeature HP:0005791 biolink:PhenotypicFeature HP:0006470 biolink:PhenotypicFeature HP:0006645 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0100254 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:93325 biolink:Disease Autosomal dominant Kenny-Caffey syndrome HP:0000270 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005791 biolink:PhenotypicFeature HP:0100254 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0001085 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002135 biolink:PhenotypicFeature HP:0002199 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002905 biolink:PhenotypicFeature HP:0003472 biolink:PhenotypicFeature HP:0004331 biolink:PhenotypicFeature HP:0005450 biolink:PhenotypicFeature HP:0005490 biolink:PhenotypicFeature HP:0006470 biolink:PhenotypicFeature HP:0007633 biolink:PhenotypicFeature HP:0007862 biolink:PhenotypicFeature HP:0008198 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0030346 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0006335 biolink:PhenotypicFeature Orphanet:2942 biolink:Disease Postpoliomyelitis syndrome HP:0001324 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0011446 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100786 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001367 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0002791 biolink:PhenotypicFeature Orphanet:231160 biolink:Disease Familial cerebral saccular aneurysm HP:0007029 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0002621 biolink:PhenotypicFeature HP:0012518 biolink:PhenotypicFeature HP:0002138 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002631 biolink:PhenotypicFeature HP:0002647 biolink:PhenotypicFeature HP:0012246 biolink:PhenotypicFeature HP:0040197 biolink:PhenotypicFeature Orphanet:71211 biolink:Disease Neuromyelitis optica spectrum disorder HP:0000009 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0002529 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0010550 biolink:PhenotypicFeature HP:0011096 biolink:PhenotypicFeature HP:0012486 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0100653 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0012229 biolink:PhenotypicFeature HP:0100247 biolink:PhenotypicFeature Orphanet:54247 biolink:Disease Posterior cortical atrophy HP:0000657 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0002442 biolink:PhenotypicFeature HP:0010523 biolink:PhenotypicFeature HP:0010524 biolink:PhenotypicFeature HP:0010525 biolink:PhenotypicFeature HP:0010526 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000551 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0010522 biolink:PhenotypicFeature HP:0030217 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002367 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0002494 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0030216 biolink:PhenotypicFeature Orphanet:99901 biolink:Disease Acyl-CoA dehydrogenase 9 deficiency HP:0011923 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003234 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003473 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0008331 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0045045 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0001958 biolink:PhenotypicFeature HP:0002181 biolink:PhenotypicFeature HP:0003215 biolink:PhenotypicFeature HP:0006554 biolink:PhenotypicFeature HP:0011695 biolink:PhenotypicFeature Orphanet:97244 biolink:Disease Rigid spine syndrome HP:0000467 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003089 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003273 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0030878 biolink:PhenotypicFeature HP:0031546 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0003391 biolink:PhenotypicFeature Orphanet:2364 biolink:Disease Glycogen storage disease due to lactate dehydrogenase deficiency HP:0002151 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003542 biolink:PhenotypicFeature HP:0002913 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0007548 biolink:PhenotypicFeature HP:0009020 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature Orphanet:2499 biolink:Disease Metachondromatosis HP:0000944 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0005701 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0100777 biolink:PhenotypicFeature Orphanet:2496 biolink:Disease Mesomelia-synostoses syndrome HP:0000347 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001440 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003027 biolink:PhenotypicFeature HP:0003063 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0010293 biolink:PhenotypicFeature HP:0100240 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000190 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003028 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature Orphanet:139578 biolink:Disease Mutilating hereditary sensory neuropathy with spastic paraplegia HP:0001257 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0006984 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0002143 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0003390 biolink:PhenotypicFeature HP:0003431 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0001862 biolink:PhenotypicFeature HP:0001886 biolink:PhenotypicFeature Orphanet:2847 biolink:Disease Pericardial and diaphragmatic defect HP:0009112 biolink:PhenotypicFeature HP:0011635 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0000766 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001718 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002245 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0012718 biolink:PhenotypicFeature HP:0100632 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:2980 biolink:Disease Acrootoocular syndrome HP:0000252 biolink:PhenotypicFeature HP:0000301 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000363 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000538 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000674 biolink:PhenotypicFeature HP:0000683 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001245 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006143 biolink:PhenotypicFeature HP:0006184 biolink:PhenotypicFeature HP:0007481 biolink:PhenotypicFeature HP:0007930 biolink:PhenotypicFeature HP:0009381 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010487 biolink:PhenotypicFeature HP:0010765 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0012428 biolink:PhenotypicFeature HP:0012725 biolink:PhenotypicFeature HP:0012810 biolink:PhenotypicFeature HP:0030842 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:93329 biolink:Disease Autosomal recessive omodysplasia HP:0000343 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002818 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005025 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003027 biolink:PhenotypicFeature HP:0001059 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0010880 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:1129 biolink:Disease Arachnodactyly-abnormal ossification-intellectual disability syndrome HP:0000270 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000586 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010539 biolink:PhenotypicFeature HP:0010565 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature Orphanet:315 biolink:Disease Erythrokeratoderma ''en cocardes'' HP:0000962 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature Orphanet:188 biolink:Disease Systemic capillary leak syndrome HP:0001974 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0025142 biolink:PhenotypicFeature HP:0031417 biolink:PhenotypicFeature HP:0100598 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000091 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0006543 biolink:PhenotypicFeature HP:0006775 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0100520 biolink:PhenotypicFeature Orphanet:1810 biolink:Disease Autosomal dominant hypohidrotic ectodermal dysplasia HP:0000164 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0006323 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0002047 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature Orphanet:537 biolink:Disease Toxic epidermal necrolysis HP:0001824 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0100792 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003781 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000142 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000621 biolink:PhenotypicFeature HP:0000795 biolink:PhenotypicFeature HP:0001637 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002103 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0006554 biolink:PhenotypicFeature HP:0031368 biolink:PhenotypicFeature HP:0200020 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:1787 biolink:Disease Acrofacial dysostosis, Palagonia type HP:0000294 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000653 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005338 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0010044 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0045074 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0003777 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0100333 biolink:PhenotypicFeature Orphanet:3474 biolink:Disease CHIME syndrome HP:0000098 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000480 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0006709 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001669 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006660 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0009767 biolink:PhenotypicFeature HP:0010173 biolink:PhenotypicFeature HP:0010882 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002488 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0100760 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:438274 biolink:Disease GCGR-related hyperglucagonemia HP:0030688 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002894 biolink:PhenotypicFeature HP:0012440 biolink:PhenotypicFeature HP:0030404 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0002044 biolink:PhenotypicFeature HP:0010280 biolink:PhenotypicFeature HP:0031181 biolink:PhenotypicFeature Orphanet:3306 biolink:Disease Inverted duplicated chromosome 15 syndrome HP:0000729 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0006863 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature HP:0011352 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012169 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0007930 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000133 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature Orphanet:276621 biolink:Disease Sporadic pheochromocytoma/secreting paraganglioma HP:0002668 biolink:PhenotypicFeature HP:0006737 biolink:PhenotypicFeature HP:0006748 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000096 biolink:PhenotypicFeature HP:0000740 biolink:PhenotypicFeature HP:0001069 biolink:PhenotypicFeature HP:0001095 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002331 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0002640 biolink:PhenotypicFeature HP:0002864 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0003345 biolink:PhenotypicFeature HP:0003574 biolink:PhenotypicFeature HP:0003639 biolink:PhenotypicFeature HP:0008629 biolink:PhenotypicFeature HP:0010532 biolink:PhenotypicFeature HP:0011703 biolink:PhenotypicFeature HP:0011979 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0031284 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001293 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001605 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0025269 biolink:PhenotypicFeature Orphanet:94080 biolink:Disease Non-functioning paraganglioma HP:0002668 biolink:PhenotypicFeature HP:0001069 biolink:PhenotypicFeature HP:0001095 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002331 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0002640 biolink:PhenotypicFeature HP:0002864 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0003345 biolink:PhenotypicFeature HP:0003574 biolink:PhenotypicFeature HP:0003639 biolink:PhenotypicFeature HP:0008629 biolink:PhenotypicFeature HP:0010532 biolink:PhenotypicFeature HP:0011703 biolink:PhenotypicFeature HP:0011979 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0031284 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001293 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001605 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0025269 biolink:PhenotypicFeature Orphanet:29072 biolink:Disease Hereditary pheochromocytoma-paraganglioma HP:0002668 biolink:PhenotypicFeature HP:0006737 biolink:PhenotypicFeature HP:0006748 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000096 biolink:PhenotypicFeature HP:0000740 biolink:PhenotypicFeature HP:0001069 biolink:PhenotypicFeature HP:0001095 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002331 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0002640 biolink:PhenotypicFeature HP:0002864 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0003345 biolink:PhenotypicFeature HP:0003574 biolink:PhenotypicFeature HP:0003639 biolink:PhenotypicFeature HP:0008629 biolink:PhenotypicFeature HP:0010532 biolink:PhenotypicFeature HP:0011703 biolink:PhenotypicFeature HP:0011979 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0031284 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001293 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001605 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0003528 biolink:PhenotypicFeature HP:0005584 biolink:PhenotypicFeature HP:0009711 biolink:PhenotypicFeature HP:0012222 biolink:PhenotypicFeature HP:0025269 biolink:PhenotypicFeature HP:0000526 biolink:PhenotypicFeature Orphanet:261494 biolink:Disease Kleefstra syndrome HP:0000232 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002263 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000391 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000742 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002779 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004415 biolink:PhenotypicFeature HP:0006288 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:42665 biolink:Disease Tietz syndrome HP:0000365 biolink:PhenotypicFeature HP:0000593 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0002226 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature Orphanet:28378 biolink:Disease Tyrosinemia type 2 HP:0000962 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0004337 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature Orphanet:679 biolink:Disease Malignant atrophic papulosis HP:0004334 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0005244 biolink:PhenotypicFeature HP:0010547 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0031368 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001637 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001697 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002140 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007021 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010936 biolink:PhenotypicFeature HP:0012089 biolink:PhenotypicFeature HP:0100576 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100819 biolink:PhenotypicFeature Orphanet:659 biolink:Disease Mutilating palmoplantar keratoderma with periorificial keratotic plaques HP:0000970 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0007410 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0031013 biolink:PhenotypicFeature HP:0031057 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0000157 biolink:PhenotypicFeature HP:0000168 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0011830 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature Orphanet:2271 biolink:Disease Congenital ichthyosis-microcephalus-tetraplegia syndrome HP:0000252 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002445 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0007021 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature Orphanet:2234 biolink:Disease Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome HP:0000046 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003782 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0100745 biolink:PhenotypicFeature Orphanet:2181 biolink:Disease Hydrocephaly-tall stature-joint laxity syndrome HP:0000098 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0003834 biolink:PhenotypicFeature Orphanet:2180 biolink:Disease Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome HP:0000238 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature Orphanet:2316 biolink:Disease Johnson neuroectodermal syndrome HP:0000135 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000561 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002223 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000458 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature Orphanet:2307 biolink:Disease IVIC syndrome HP:0000365 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0000143 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0006660 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature Orphanet:2290 biolink:Disease Microvillus inclusion disease HP:0000121 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0011106 biolink:PhenotypicFeature HP:0011472 biolink:PhenotypicFeature HP:0011473 biolink:PhenotypicFeature HP:0012211 biolink:PhenotypicFeature Orphanet:455 biolink:Disease Superficial epidermolytic ichthyosis HP:0000963 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0100792 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature Orphanet:3405 biolink:Disease Umbilical cord ulceration-intestinal atresia syndrome HP:0001561 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002247 biolink:PhenotypicFeature HP:0001195 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0001702 biolink:PhenotypicFeature HP:0011100 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature Orphanet:3032 biolink:Disease NPHP3-related Meckel-like syndrome HP:0000003 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001732 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0012440 biolink:PhenotypicFeature HP:0030146 biolink:PhenotypicFeature Orphanet:2613 biolink:Disease Nail-patella-like renal disease HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0002907 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature Orphanet:672 biolink:Disease Pallister-Hall syndrome HP:0002444 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000191 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001837 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0005990 biolink:PhenotypicFeature HP:0006695 biolink:PhenotypicFeature HP:0007601 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0010564 biolink:PhenotypicFeature HP:0010821 biolink:PhenotypicFeature HP:0012165 biolink:PhenotypicFeature HP:0030021 biolink:PhenotypicFeature HP:0410030 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002139 biolink:PhenotypicFeature HP:0005684 biolink:PhenotypicFeature HP:0008684 biolink:PhenotypicFeature HP:0010958 biolink:PhenotypicFeature HP:0011026 biolink:PhenotypicFeature HP:0030010 biolink:PhenotypicFeature HP:0030431 biolink:PhenotypicFeature HP:0030799 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000695 biolink:PhenotypicFeature HP:0000902 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0002986 biolink:PhenotypicFeature HP:0003048 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005917 biolink:PhenotypicFeature HP:0006136 biolink:PhenotypicFeature HP:0008213 biolink:PhenotypicFeature HP:0008240 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008751 biolink:PhenotypicFeature HP:0009958 biolink:PhenotypicFeature HP:0009971 biolink:PhenotypicFeature HP:0010044 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0011734 biolink:PhenotypicFeature HP:0011748 biolink:PhenotypicFeature HP:0011939 biolink:PhenotypicFeature HP:0012751 biolink:PhenotypicFeature HP:0040075 biolink:PhenotypicFeature HP:0040086 biolink:PhenotypicFeature HP:0100260 biolink:PhenotypicFeature HP:0200117 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000086 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000171 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000273 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000749 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000835 biolink:PhenotypicFeature HP:0000871 biolink:PhenotypicFeature Orphanet:2155 biolink:Disease Hirschsprung disease-deafness-polydactyly syndrome HP:0001829 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:2150 biolink:Disease Hirschsprung disease-type D brachydactyly syndrome HP:0002251 biolink:PhenotypicFeature HP:0010624 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0009650 biolink:PhenotypicFeature HP:0010111 biolink:PhenotypicFeature Orphanet:2136 biolink:Disease Hennekam syndrome HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001530 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100764 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0001055 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0011830 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000086 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002215 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006521 biolink:PhenotypicFeature HP:0010310 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100835 biolink:PhenotypicFeature Orphanet:85319 biolink:Disease X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome HP:0000280 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0005876 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature Orphanet:1134 biolink:Disease Isolated arrhinia HP:0000316 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000625 biolink:PhenotypicFeature HP:0002006 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0004122 biolink:PhenotypicFeature HP:0004646 biolink:PhenotypicFeature HP:0005273 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009935 biolink:PhenotypicFeature HP:0009927 biolink:PhenotypicFeature Orphanet:2462 biolink:Disease Shprintzen-Goldberg syndrome HP:0000268 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001334 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001646 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000921 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0010318 biolink:PhenotypicFeature Orphanet:2563 biolink:Disease MOMO syndrome HP:0001513 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000215 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000625 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000679 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000879 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0001548 biolink:PhenotypicFeature HP:0001795 biolink:PhenotypicFeature HP:0001833 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002980 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007633 biolink:PhenotypicFeature HP:0007930 biolink:PhenotypicFeature HP:0008577 biolink:PhenotypicFeature HP:0011849 biolink:PhenotypicFeature HP:0012810 biolink:PhenotypicFeature HP:0025112 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0006585 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature Orphanet:2347 biolink:Disease Lethal Kniest-like dysplasia HP:0000175 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000773 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000907 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000946 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001538 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001623 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002763 biolink:PhenotypicFeature HP:0003015 biolink:PhenotypicFeature HP:0003174 biolink:PhenotypicFeature HP:0003417 biolink:PhenotypicFeature HP:0005026 biolink:PhenotypicFeature HP:0005622 biolink:PhenotypicFeature HP:0008178 biolink:PhenotypicFeature HP:0008479 biolink:PhenotypicFeature HP:0008890 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature Orphanet:2484 biolink:Disease Melnick-Needles syndrome HP:0000270 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000692 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000894 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002879 biolink:PhenotypicFeature HP:0003172 biolink:PhenotypicFeature HP:0004493 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0009771 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010230 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature Orphanet:2485 biolink:Disease Melorheostosis HP:0000924 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0011987 biolink:PhenotypicFeature HP:0100774 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0100560 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0100784 biolink:PhenotypicFeature Orphanet:561 biolink:Disease Marshall-Smith syndrome HP:0000278 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0003100 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0010808 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature Orphanet:2470 biolink:Disease Matthew-Wood syndrome HP:0000528 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000130 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001734 biolink:PhenotypicFeature HP:0025408 biolink:PhenotypicFeature HP:0100800 biolink:PhenotypicFeature HP:0100867 biolink:PhenotypicFeature Orphanet:1991 biolink:Disease Cleft lip with or without cleft palate HP:0100335 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0011109 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100338 biolink:PhenotypicFeature HP:0410031 biolink:PhenotypicFeature HP:0000161 biolink:PhenotypicFeature HP:0008501 biolink:PhenotypicFeature Orphanet:99771 biolink:Disease Bifid uvula HP:0000193 biolink:PhenotypicFeature HP:0008376 biolink:PhenotypicFeature HP:0011819 biolink:PhenotypicFeature HP:0410030 biolink:PhenotypicFeature Orphanet:2319 biolink:Disease Juberg-Hayward syndrome HP:0000252 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001765 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001545 biolink:PhenotypicFeature Orphanet:2328 biolink:Disease Kapur-Toriello syndrome HP:0000202 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000480 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0000059 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0006989 biolink:PhenotypicFeature Orphanet:298 biolink:Disease Mitochondrial neurogastrointestinal encephalomyopathy HP:0000544 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002352 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0012850 biolink:PhenotypicFeature HP:0025149 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003200 biolink:PhenotypicFeature HP:0003348 biolink:PhenotypicFeature HP:0003387 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003431 biolink:PhenotypicFeature HP:0003448 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0008049 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0012103 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001403 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0025461 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature Orphanet:99921 biolink:Disease Chronic graft versus host disease HP:0001058 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0007432 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000495 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001806 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012537 biolink:PhenotypicFeature HP:0000142 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001741 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002031 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002043 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004791 biolink:PhenotypicFeature HP:0006536 biolink:PhenotypicFeature HP:0011946 biolink:PhenotypicFeature HP:0012181 biolink:PhenotypicFeature HP:0012344 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025270 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0100537 biolink:PhenotypicFeature HP:0100577 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:2988 biolink:Disease Pterygium colli-intellectual disability-digital anomalies syndrome HP:0000465 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000537 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0006247 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature HP:0009662 biolink:PhenotypicFeature HP:0009836 biolink:PhenotypicFeature HP:0025537 biolink:PhenotypicFeature HP:0025538 biolink:PhenotypicFeature Orphanet:50251 biolink:Disease Pleural mesothelioma HP:0002202 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002103 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025142 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002795 biolink:PhenotypicFeature HP:0007011 biolink:PhenotypicFeature HP:0011025 biolink:PhenotypicFeature HP:0031041 biolink:PhenotypicFeature Orphanet:1655 biolink:Disease Müllerian derivatives-lymphangiectasia-polydactyly syndrome HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000130 biolink:PhenotypicFeature HP:0000148 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001090 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0003075 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0005989 biolink:PhenotypicFeature HP:0006273 biolink:PhenotypicFeature HP:0006521 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0009085 biolink:PhenotypicFeature HP:0011027 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012210 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0002243 biolink:PhenotypicFeature Orphanet:268882 biolink:Disease Arnold-Chiari malformation type I HP:0007099 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002331 biolink:PhenotypicFeature HP:0030833 biolink:PhenotypicFeature HP:0040010 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001293 biolink:PhenotypicFeature HP:0001605 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002196 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002949 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0004602 biolink:PhenotypicFeature HP:0004608 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007067 biolink:PhenotypicFeature HP:0009591 biolink:PhenotypicFeature HP:0010558 biolink:PhenotypicFeature HP:0010825 biolink:PhenotypicFeature HP:0010826 biolink:PhenotypicFeature HP:0011389 biolink:PhenotypicFeature HP:0012046 biolink:PhenotypicFeature HP:0012534 biolink:PhenotypicFeature HP:0025258 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001437 biolink:PhenotypicFeature HP:0002512 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0005758 biolink:PhenotypicFeature HP:0008615 biolink:PhenotypicFeature HP:0010536 biolink:PhenotypicFeature HP:0012366 biolink:PhenotypicFeature HP:0030195 biolink:PhenotypicFeature Orphanet:1662 biolink:Disease Restrictive dermopathy HP:0030053 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000621 biolink:PhenotypicFeature HP:0000883 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001196 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002597 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0004331 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0004492 biolink:PhenotypicFeature HP:0005253 biolink:PhenotypicFeature HP:0005267 biolink:PhenotypicFeature HP:0005595 biolink:PhenotypicFeature HP:0006266 biolink:PhenotypicFeature HP:0006645 biolink:PhenotypicFeature HP:0006710 biolink:PhenotypicFeature HP:0007543 biolink:PhenotypicFeature HP:0007592 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0009924 biolink:PhenotypicFeature HP:0010219 biolink:PhenotypicFeature HP:0010648 biolink:PhenotypicFeature HP:0012478 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0025354 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0200102 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000073 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000695 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001651 biolink:PhenotypicFeature HP:0001669 biolink:PhenotypicFeature HP:0001799 biolink:PhenotypicFeature HP:0004388 biolink:PhenotypicFeature HP:0005111 biolink:PhenotypicFeature HP:0005659 biolink:PhenotypicFeature HP:0006267 biolink:PhenotypicFeature HP:0008244 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:2834 biolink:Disease Wrinkly skin syndrome HP:0007407 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000253 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000973 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001476 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001788 biolink:PhenotypicFeature HP:0001869 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002761 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0003160 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004426 biolink:PhenotypicFeature HP:0004993 biolink:PhenotypicFeature HP:0005272 biolink:PhenotypicFeature HP:0005425 biolink:PhenotypicFeature HP:0006114 biolink:PhenotypicFeature HP:0006191 biolink:PhenotypicFeature HP:0006891 biolink:PhenotypicFeature HP:0007392 biolink:PhenotypicFeature HP:0007457 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008113 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0010838 biolink:PhenotypicFeature HP:0011003 biolink:PhenotypicFeature HP:0025167 biolink:PhenotypicFeature HP:0200141 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0011995 biolink:PhenotypicFeature HP:0010989 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature Orphanet:1596 biolink:Disease Distal monosomy 15q HP:0001511 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001718 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002761 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004760 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0005709 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0009381 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010297 biolink:PhenotypicFeature HP:0012303 biolink:PhenotypicFeature HP:0030353 biolink:PhenotypicFeature HP:0030918 biolink:PhenotypicFeature HP:0040019 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000003 biolink:PhenotypicFeature HP:0000476 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001195 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0004471 biolink:PhenotypicFeature HP:0011560 biolink:PhenotypicFeature HP:0011651 biolink:PhenotypicFeature HP:0100542 biolink:PhenotypicFeature Orphanet:99413 biolink:Disease Turner syndrome due to structural X chromosome anomalies HP:0000137 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0000879 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0003492 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0006709 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0008222 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0012774 biolink:PhenotypicFeature HP:0040073 biolink:PhenotypicFeature HP:0100625 biolink:PhenotypicFeature HP:0100805 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000475 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000758 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000833 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0000914 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0005113 biolink:PhenotypicFeature HP:0005689 biolink:PhenotypicFeature HP:0006438 biolink:PhenotypicFeature HP:0006456 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0009759 biolink:PhenotypicFeature HP:0010044 biolink:PhenotypicFeature HP:0010047 biolink:PhenotypicFeature HP:0010510 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000086 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000476 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001812 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002608 biolink:PhenotypicFeature HP:0002611 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003067 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0003764 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0005603 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008356 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0009118 biolink:PhenotypicFeature HP:0011307 biolink:PhenotypicFeature HP:0012434 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature HP:0000150 biolink:PhenotypicFeature HP:0000471 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0002037 biolink:PhenotypicFeature HP:0002613 biolink:PhenotypicFeature HP:0002647 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0004386 biolink:PhenotypicFeature HP:0005294 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature Orphanet:99226 biolink:Disease Monosomy X HP:0000137 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0000879 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0003492 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0006709 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0008222 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0012774 biolink:PhenotypicFeature HP:0040073 biolink:PhenotypicFeature HP:0100625 biolink:PhenotypicFeature HP:0100805 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000475 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000758 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000833 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0000914 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0005113 biolink:PhenotypicFeature HP:0005689 biolink:PhenotypicFeature HP:0006438 biolink:PhenotypicFeature HP:0006456 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0009759 biolink:PhenotypicFeature HP:0010044 biolink:PhenotypicFeature HP:0010047 biolink:PhenotypicFeature HP:0010510 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000086 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000476 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001812 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002608 biolink:PhenotypicFeature HP:0002611 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003067 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0003764 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0005603 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008356 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0009118 biolink:PhenotypicFeature HP:0011307 biolink:PhenotypicFeature HP:0012434 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature HP:0000150 biolink:PhenotypicFeature HP:0000471 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0002037 biolink:PhenotypicFeature HP:0002613 biolink:PhenotypicFeature HP:0002647 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0004386 biolink:PhenotypicFeature HP:0005294 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature Orphanet:99228 biolink:Disease Mosaic monosomy X HP:0000137 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0000879 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0003492 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0006709 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0008222 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0012774 biolink:PhenotypicFeature HP:0040073 biolink:PhenotypicFeature HP:0100625 biolink:PhenotypicFeature HP:0100805 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000475 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000758 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000833 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0000914 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0005113 biolink:PhenotypicFeature HP:0005689 biolink:PhenotypicFeature HP:0006438 biolink:PhenotypicFeature HP:0006456 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0009759 biolink:PhenotypicFeature HP:0010044 biolink:PhenotypicFeature HP:0010047 biolink:PhenotypicFeature HP:0010510 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000086 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000476 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001812 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002608 biolink:PhenotypicFeature HP:0002611 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003067 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0003764 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0005603 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008356 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0009118 biolink:PhenotypicFeature HP:0011307 biolink:PhenotypicFeature HP:0012434 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature HP:0000150 biolink:PhenotypicFeature HP:0000471 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0002037 biolink:PhenotypicFeature HP:0002613 biolink:PhenotypicFeature HP:0002647 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0004386 biolink:PhenotypicFeature HP:0005294 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature Orphanet:3175 biolink:Disease X-linked spasticity-intellectual disability-epilepsy syndrome HP:0001249 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature Orphanet:220 biolink:Disease Denys-Drash syndrome HP:0000037 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000133 biolink:PhenotypicFeature Orphanet:34587 biolink:Disease Glycogen storage disease due to LAMP-2 deficiency HP:0001249 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0006543 biolink:PhenotypicFeature HP:0010547 biolink:PhenotypicFeature Orphanet:2962 biolink:Disease De Barsy syndrome HP:0001611 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001788 biolink:PhenotypicFeature HP:0001884 biolink:PhenotypicFeature HP:0002305 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002761 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005272 biolink:PhenotypicFeature HP:0005328 biolink:PhenotypicFeature HP:0005425 biolink:PhenotypicFeature HP:0007457 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0009748 biolink:PhenotypicFeature HP:0010648 biolink:PhenotypicFeature HP:0011003 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0025167 biolink:PhenotypicFeature HP:0200141 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0007392 biolink:PhenotypicFeature HP:0030604 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0005301 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0012304 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000253 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000973 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001476 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature Orphanet:252054 biolink:Disease Hemangioblastoma HP:0010797 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0006880 biolink:PhenotypicFeature HP:0009711 biolink:PhenotypicFeature HP:0010576 biolink:PhenotypicFeature HP:0030915 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0009713 biolink:PhenotypicFeature HP:0012534 biolink:PhenotypicFeature HP:0030144 biolink:PhenotypicFeature HP:0100661 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature Orphanet:97289 biolink:Disease Thymic neuroendocrine tumor HP:0100521 biolink:PhenotypicFeature HP:0100634 biolink:PhenotypicFeature HP:0045026 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002730 biolink:PhenotypicFeature HP:0003118 biolink:PhenotypicFeature HP:0003154 biolink:PhenotypicFeature HP:0005345 biolink:PhenotypicFeature HP:0007457 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0030829 biolink:PhenotypicFeature HP:0100568 biolink:PhenotypicFeature HP:0100570 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0004724 biolink:PhenotypicFeature HP:0006767 biolink:PhenotypicFeature HP:0008200 biolink:PhenotypicFeature HP:0008261 biolink:PhenotypicFeature HP:0011761 biolink:PhenotypicFeature Orphanet:3455 biolink:Disease Wiedemann-Rautenstrauch syndrome HP:0000160 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000292 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000621 biolink:PhenotypicFeature HP:0000695 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001043 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001533 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003683 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0004492 biolink:PhenotypicFeature HP:0005328 biolink:PhenotypicFeature HP:0007409 biolink:PhenotypicFeature HP:0008846 biolink:PhenotypicFeature HP:0009059 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000267 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000598 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002415 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0002684 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0003097 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003429 biolink:PhenotypicFeature HP:0003712 biolink:PhenotypicFeature HP:0005792 biolink:PhenotypicFeature HP:0006470 biolink:PhenotypicFeature HP:0006480 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008386 biolink:PhenotypicFeature HP:0008476 biolink:PhenotypicFeature HP:0009003 biolink:PhenotypicFeature HP:0010511 biolink:PhenotypicFeature HP:0010648 biolink:PhenotypicFeature HP:0011410 biolink:PhenotypicFeature HP:0011819 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012811 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100678 biolink:PhenotypicFeature HP:0100769 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000387 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000946 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002345 biolink:PhenotypicFeature HP:0003413 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0007099 biolink:PhenotypicFeature HP:0007702 biolink:PhenotypicFeature HP:0008469 biolink:PhenotypicFeature HP:0008479 biolink:PhenotypicFeature HP:0010994 biolink:PhenotypicFeature HP:0030265 biolink:PhenotypicFeature HP:0100581 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000836 biolink:PhenotypicFeature HP:0005164 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007766 biolink:PhenotypicFeature HP:0025134 biolink:PhenotypicFeature HP:0030001 biolink:PhenotypicFeature HP:0030088 biolink:PhenotypicFeature HP:0045017 biolink:PhenotypicFeature Orphanet:168796 biolink:Disease Heart-hand syndrome, Slovenian type HP:0001644 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0005115 biolink:PhenotypicFeature HP:0005150 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011702 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature Orphanet:103910 biolink:Disease Congenital enterocyte heparan sulfate deficiency HP:0001824 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002243 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0011012 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002573 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0010876 biolink:PhenotypicFeature Orphanet:228190 biolink:Disease Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome HP:0001643 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0005295 biolink:PhenotypicFeature HP:0005922 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0010047 biolink:PhenotypicFeature HP:0011927 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature Orphanet:71212 biolink:Disease Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency HP:0100950 biolink:PhenotypicFeature HP:0000825 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001985 biolink:PhenotypicFeature HP:0001998 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002173 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003215 biolink:PhenotypicFeature HP:0003508 biolink:PhenotypicFeature HP:0006929 biolink:PhenotypicFeature HP:0008283 biolink:PhenotypicFeature HP:0012071 biolink:PhenotypicFeature HP:0030781 biolink:PhenotypicFeature HP:0030796 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003234 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0002605 biolink:PhenotypicFeature HP:0002913 biolink:PhenotypicFeature HP:0006554 biolink:PhenotypicFeature Orphanet:721 biolink:Disease Gray platelet syndrome HP:0000978 biolink:PhenotypicFeature HP:0001872 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0000140 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature Orphanet:1479 biolink:Disease Atrial septal defect-atrioventricular conduction defects syndrome HP:0001671 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011710 biolink:PhenotypicFeature Orphanet:83620 biolink:Disease Enteric anendocrinosis HP:0001944 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0004918 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0002611 biolink:PhenotypicFeature HP:0025354 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature Orphanet:3097 biolink:Disease Meacham syndrome HP:0000062 biolink:PhenotypicFeature HP:0000142 biolink:PhenotypicFeature HP:0000148 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0006703 biolink:PhenotypicFeature HP:0011027 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0030010 biolink:PhenotypicFeature HP:0100632 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001669 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001696 biolink:PhenotypicFeature HP:0001710 biolink:PhenotypicFeature HP:0001743 biolink:PhenotypicFeature HP:0004736 biolink:PhenotypicFeature HP:0010772 biolink:PhenotypicFeature Orphanet:2513 biolink:Disease Microcephaly-albinism-digital anomalies syndrome HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010185 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature Orphanet:2511 biolink:Disease Microbrachycephaly-ptosis-cleft lip syndrome HP:0000239 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000364 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000598 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003172 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008818 biolink:PhenotypicFeature HP:0009721 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0010668 biolink:PhenotypicFeature HP:0100333 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature Orphanet:2516 biolink:Disease Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0000252 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000383 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001660 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature Orphanet:2515 biolink:Disease Microcephaly-cardiomyopathy syndrome HP:0000252 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature Orphanet:171844 biolink:Disease Blindness-scoliosis-arachnodactyly syndrome HP:0000572 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0001132 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0012376 biolink:PhenotypicFeature Orphanet:2089 biolink:Disease Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0000737 biolink:PhenotypicFeature HP:0001946 biolink:PhenotypicFeature HP:0002919 biolink:PhenotypicFeature HP:0003076 biolink:PhenotypicFeature HP:0011998 biolink:PhenotypicFeature HP:0012734 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature Orphanet:2900 biolink:Disease Leri pleonosteosis HP:0003510 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100679 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0100795 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002816 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature Orphanet:2917 biolink:Disease Polydactyly-myopia syndrome HP:0000545 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0100541 biolink:PhenotypicFeature Orphanet:2753 biolink:Disease Orofaciodigital syndrome type 4 HP:0000157 biolink:PhenotypicFeature HP:0000161 biolink:PhenotypicFeature HP:0000168 biolink:PhenotypicFeature HP:0000190 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001367 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0005772 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0009118 biolink:PhenotypicFeature HP:0010285 biolink:PhenotypicFeature HP:0010469 biolink:PhenotypicFeature HP:0010566 biolink:PhenotypicFeature HP:0011267 biolink:PhenotypicFeature HP:0011830 biolink:PhenotypicFeature HP:0030868 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012157 biolink:PhenotypicFeature HP:0100308 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000143 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000598 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0004871 biolink:PhenotypicFeature HP:0005944 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0011255 biolink:PhenotypicFeature HP:0025023 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature Orphanet:2896 biolink:Disease Pitt-Hopkins syndrome HP:0000154 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000391 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000692 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002036 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0006352 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature HP:0010743 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature HP:0011300 biolink:PhenotypicFeature HP:0011833 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0040019 biolink:PhenotypicFeature HP:0100633 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000451 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001063 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001786 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002472 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0002883 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0040082 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0012189 biolink:PhenotypicFeature Orphanet:2461 biolink:Disease Marden-Walker syndrome HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001460 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0003560 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0000003 biolink:PhenotypicFeature HP:0000036 biolink:PhenotypicFeature HP:0000039 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000072 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001331 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001651 biolink:PhenotypicFeature HP:0001696 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002334 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004307 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0010935 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature Orphanet:1832 biolink:Disease Lethal osteosclerotic bone dysplasia HP:0000239 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0008501 biolink:PhenotypicFeature HP:0000169 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0009939 biolink:PhenotypicFeature Orphanet:2636 biolink:Disease Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000072 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002748 biolink:PhenotypicFeature HP:0002749 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003172 biolink:PhenotypicFeature HP:0003189 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0005108 biolink:PhenotypicFeature HP:0005613 biolink:PhenotypicFeature HP:0006660 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008818 biolink:PhenotypicFeature HP:0009832 biolink:PhenotypicFeature HP:0009836 biolink:PhenotypicFeature HP:0010443 biolink:PhenotypicFeature HP:0010935 biolink:PhenotypicFeature HP:0011097 biolink:PhenotypicFeature HP:0011457 biolink:PhenotypicFeature HP:0045074 biolink:PhenotypicFeature HP:0100530 biolink:PhenotypicFeature HP:0100569 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0009912 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature Orphanet:559 biolink:Disease Marinesco-Sjögren syndrome HP:0000135 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001460 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002334 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0012400 biolink:PhenotypicFeature HP:0040081 biolink:PhenotypicFeature HP:0045040 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0003560 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0005743 biolink:PhenotypicFeature HP:0010508 biolink:PhenotypicFeature HP:0010547 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature Orphanet:2201 biolink:Disease Palmoplantar keratoderma-spastic paralysis syndrome HP:0000982 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0007021 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010547 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature Orphanet:2202 biolink:Disease Palmoplantar keratoderma-deafness syndrome HP:0000407 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature Orphanet:312 biolink:Disease Autosomal dominant epidermolytic ichthyosis HP:0000962 biolink:PhenotypicFeature HP:0001019 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0007475 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0100780 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:2198 biolink:Disease Palmoplantar keratoderma-esophageal carcinoma syndrome HP:0000982 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002250 biolink:PhenotypicFeature HP:0100751 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0025270 biolink:PhenotypicFeature HP:0045026 biolink:PhenotypicFeature HP:0100760 biolink:PhenotypicFeature Orphanet:257 biolink:Disease Epidermolysis bullosa simplex with muscular dystrophy HP:0000597 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0001812 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature HP:0010547 biolink:PhenotypicFeature HP:0012246 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0003473 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:2189 biolink:Disease Hydrolethalus HP:0000238 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001331 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0004408 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0030690 biolink:PhenotypicFeature HP:0100333 biolink:PhenotypicFeature HP:0100682 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0002139 biolink:PhenotypicFeature HP:0002323 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0011027 biolink:PhenotypicFeature Orphanet:1899 biolink:Disease Arthrochalasia Ehlers-Danlos syndrome HP:0000963 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001001 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005743 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature HP:0010547 biolink:PhenotypicFeature HP:0100699 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0100541 biolink:PhenotypicFeature Orphanet:1901 biolink:Disease Dermatosparaxis Ehlers-Danlos syndrome HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001001 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001367 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002036 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002748 biolink:PhenotypicFeature HP:0002749 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0003010 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0005743 biolink:PhenotypicFeature HP:0007392 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature HP:0100633 biolink:PhenotypicFeature HP:0100699 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0100541 biolink:PhenotypicFeature Orphanet:2251 biolink:Disease Thumb deformity-alopecia-pigmentation anomaly syndrome HP:0000953 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0008402 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature HP:0040036 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100798 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature Orphanet:2250 biolink:Disease Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HP:0000023 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000309 biolink:PhenotypicFeature HP:0000458 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000692 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0004409 biolink:PhenotypicFeature HP:0006352 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009932 biolink:PhenotypicFeature HP:0040326 biolink:PhenotypicFeature HP:0100596 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0009023 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature Orphanet:2249 biolink:Disease Ulna hypoplasia-intellectual disability syndrome HP:0000239 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001802 biolink:PhenotypicFeature HP:0001817 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0003027 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature Orphanet:2220 biolink:Disease Hypertrichosis cubiti HP:0002230 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0011121 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000464 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000614 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature Orphanet:2218 biolink:Disease Cervical hypertrichosis-peripheral neuropathy syndrome HP:0001305 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0040165 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:2213 biolink:Disease Hypertelorism-microtia-facial clefting syndrome HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0008501 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0003393 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004736 biolink:PhenotypicFeature HP:0000456 biolink:PhenotypicFeature HP:0011803 biolink:PhenotypicFeature Orphanet:2211 biolink:Disease Hypertelorism-hypospadias-polysyndactyly syndrome HP:0000036 biolink:PhenotypicFeature HP:0000039 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000049 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000625 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002536 biolink:PhenotypicFeature HP:0007227 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0030769 biolink:PhenotypicFeature Orphanet:2206 biolink:Disease Ankylosing vertebral hyperostosis with tylosis HP:0000925 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0040163 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature Orphanet:295036 biolink:Disease Congenital patella dislocation HP:0002999 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003066 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0009787 biolink:PhenotypicFeature Orphanet:45 biolink:Disease Adenosine monophosphate deaminase deficiency HP:0003326 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003690 biolink:PhenotypicFeature HP:0003738 biolink:PhenotypicFeature HP:0009020 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0008331 biolink:PhenotypicFeature Orphanet:40366 biolink:Disease Acitretin/etretinate embryopathy HP:0011438 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000378 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000479 biolink:PhenotypicFeature HP:0000778 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0001710 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0005104 biolink:PhenotypicFeature HP:0006695 biolink:PhenotypicFeature HP:0008058 biolink:PhenotypicFeature HP:0008364 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0009099 biolink:PhenotypicFeature HP:0009117 biolink:PhenotypicFeature HP:0012759 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0001709 biolink:PhenotypicFeature HP:0006493 biolink:PhenotypicFeature HP:0006496 biolink:PhenotypicFeature HP:0009760 biolink:PhenotypicFeature Orphanet:159 biolink:Disease Carnitine-acylcarnitine translocase deficiency HP:0000737 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001985 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003162 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0003215 biolink:PhenotypicFeature HP:0003234 biolink:PhenotypicFeature HP:0004756 biolink:PhenotypicFeature HP:0008331 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0040290 biolink:PhenotypicFeature HP:0045045 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002882 biolink:PhenotypicFeature HP:0100520 biolink:PhenotypicFeature HP:0100602 biolink:PhenotypicFeature Orphanet:60039 biolink:Disease Pudendal neuralgia HP:0000802 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0011848 biolink:PhenotypicFeature HP:0030016 biolink:PhenotypicFeature HP:0030155 biolink:PhenotypicFeature HP:0030943 biolink:PhenotypicFeature HP:0100515 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0007379 biolink:PhenotypicFeature HP:0010787 biolink:PhenotypicFeature HP:0030439 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0410019 biolink:PhenotypicFeature Orphanet:3411 biolink:Disease Double uterus-hemivagina-renal agenesis syndrome HP:0000104 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001623 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0003762 biolink:PhenotypicFeature HP:0008670 biolink:PhenotypicFeature HP:0012532 biolink:PhenotypicFeature HP:0012888 biolink:PhenotypicFeature HP:0030016 biolink:PhenotypicFeature HP:0030711 biolink:PhenotypicFeature HP:0100607 biolink:PhenotypicFeature HP:0100608 biolink:PhenotypicFeature Orphanet:2804 biolink:Disease W syndrome HP:0000176 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001137 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0002986 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006293 biolink:PhenotypicFeature HP:0010809 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0100037 biolink:PhenotypicFeature HP:0100268 biolink:PhenotypicFeature Orphanet:300536 biolink:Disease DDOST-CDG HP:0000565 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003256 biolink:PhenotypicFeature HP:0003429 biolink:PhenotypicFeature HP:0003642 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0007301 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0410018 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0000832 biolink:PhenotypicFeature HP:0012593 biolink:PhenotypicFeature Orphanet:2215 biolink:Disease Multiple pterygium-malignant hyperthermia syndrome HP:0000277 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0005988 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0002047 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0009775 biolink:PhenotypicFeature HP:0011302 biolink:PhenotypicFeature HP:0012370 biolink:PhenotypicFeature HP:0012400 biolink:PhenotypicFeature HP:0040081 biolink:PhenotypicFeature HP:0045040 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000187 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001557 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0001812 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002263 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0005306 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006288 biolink:PhenotypicFeature HP:0008402 biolink:PhenotypicFeature HP:0010733 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0040036 biolink:PhenotypicFeature HP:0100556 biolink:PhenotypicFeature HP:0100798 biolink:PhenotypicFeature Orphanet:3469 biolink:Disease XK aprosencephaly syndrome HP:0002023 biolink:PhenotypicFeature HP:0005288 biolink:PhenotypicFeature HP:0045009 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000600 biolink:PhenotypicFeature HP:0000811 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature Orphanet:2789 biolink:Disease Lateral meningocele syndrome HP:0000268 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0100775 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004452 biolink:PhenotypicFeature HP:0004493 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature Orphanet:2802 biolink:Disease X-linked sideroblastic anemia and spinocerebellar ataxia HP:0000639 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature Orphanet:123 biolink:Disease Björnstad syndrome HP:0000407 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002299 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:2221 biolink:Disease Acquired hypertrichosis lanuginosa HP:0000492 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000206 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0100013 biolink:PhenotypicFeature HP:0100606 biolink:PhenotypicFeature HP:0100615 biolink:PhenotypicFeature Orphanet:137834 biolink:Disease Frank-Ter Haar syndrome HP:0000154 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002816 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004568 biolink:PhenotypicFeature HP:0006480 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature Orphanet:2326 biolink:Disease Kallmann syndrome-heart disease syndrome HP:0000044 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0010632 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000200 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001719 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004971 biolink:PhenotypicFeature HP:0008689 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0010633 biolink:PhenotypicFeature HP:0011638 biolink:PhenotypicFeature HP:0012020 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0005211 biolink:PhenotypicFeature HP:0010444 biolink:PhenotypicFeature Orphanet:1333 biolink:Disease Familial pancreatic carcinoma HP:0006725 biolink:PhenotypicFeature HP:0001738 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0012432 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0004389 biolink:PhenotypicFeature HP:0005249 biolink:PhenotypicFeature HP:0012334 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002254 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0002896 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0003003 biolink:PhenotypicFeature HP:0025318 biolink:PhenotypicFeature HP:0100592 biolink:PhenotypicFeature Orphanet:3093 biolink:Disease Congenital aortic valve stenosis HP:0001650 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0004380 biolink:PhenotypicFeature HP:0005135 biolink:PhenotypicFeature HP:0005176 biolink:PhenotypicFeature HP:0010883 biolink:PhenotypicFeature HP:0025075 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0001706 biolink:PhenotypicFeature HP:0005162 biolink:PhenotypicFeature HP:0012664 biolink:PhenotypicFeature HP:0030850 biolink:PhenotypicFeature HP:0100584 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0012727 biolink:PhenotypicFeature Orphanet:1446 biolink:Disease Ring chromosome 22 syndrome HP:0000027 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000719 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001067 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0010808 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0012810 biolink:PhenotypicFeature HP:0100797 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001331 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature Orphanet:1020 biolink:Disease Early-onset autosomal dominant Alzheimer disease HP:0000713 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002185 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0003791 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0012759 biolink:PhenotypicFeature HP:0000734 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002186 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0010525 biolink:PhenotypicFeature HP:0010526 biolink:PhenotypicFeature HP:0011446 biolink:PhenotypicFeature HP:0030219 biolink:PhenotypicFeature Orphanet:34516 biolink:Disease DNAJB6-related limb-girdle muscular dystrophy D1 HP:0003324 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0003715 biolink:PhenotypicFeature HP:0003805 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature HP:0012548 biolink:PhenotypicFeature HP:0030951 biolink:PhenotypicFeature HP:0004303 biolink:PhenotypicFeature HP:0010548 biolink:PhenotypicFeature Orphanet:36899 biolink:Disease Myoclonus-dystonia syndrome HP:0001332 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0010531 biolink:PhenotypicFeature HP:0045084 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0002356 biolink:PhenotypicFeature HP:0012075 biolink:PhenotypicFeature HP:0025269 biolink:PhenotypicFeature Orphanet:43393 biolink:Disease Lambert-Eaton myasthenic syndrome HP:0000217 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0003403 biolink:PhenotypicFeature HP:0009073 biolink:PhenotypicFeature HP:0030000 biolink:PhenotypicFeature HP:0030209 biolink:PhenotypicFeature HP:0000315 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002483 biolink:PhenotypicFeature HP:0030357 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0004926 biolink:PhenotypicFeature Orphanet:52430 biolink:Disease Inclusion body myopathy with Paget disease of bone and frontotemporal dementia HP:0002460 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0003805 biolink:PhenotypicFeature HP:0012083 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0002145 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0030838 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001293 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002442 biolink:PhenotypicFeature HP:0002450 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0002648 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature HP:0003390 biolink:PhenotypicFeature HP:0003444 biolink:PhenotypicFeature HP:0003445 biolink:PhenotypicFeature HP:0003700 biolink:PhenotypicFeature HP:0004347 biolink:PhenotypicFeature HP:0004490 biolink:PhenotypicFeature HP:0007002 biolink:PhenotypicFeature HP:0007354 biolink:PhenotypicFeature HP:0011314 biolink:PhenotypicFeature HP:0012548 biolink:PhenotypicFeature HP:0002756 biolink:PhenotypicFeature Orphanet:261920 biolink:Disease Partial deletion of the short arm of chromosome 8 Orphanet:264450 biolink:Disease Trisomy 8p HP:0000028 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001100 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001734 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0001864 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004689 biolink:PhenotypicFeature HP:0004704 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005495 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0009913 biolink:PhenotypicFeature HP:0010034 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0010945 biolink:PhenotypicFeature HP:0011466 biolink:PhenotypicFeature HP:0011918 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0040018 biolink:PhenotypicFeature HP:0040022 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000633 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001711 biolink:PhenotypicFeature HP:0003006 biolink:PhenotypicFeature HP:0004794 biolink:PhenotypicFeature HP:0004969 biolink:PhenotypicFeature HP:0005176 biolink:PhenotypicFeature HP:0008609 biolink:PhenotypicFeature HP:0011546 biolink:PhenotypicFeature HP:0011939 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:70594 biolink:Disease Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0000338 biolink:PhenotypicFeature HP:0000366 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0005968 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0010553 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature Orphanet:96097 biolink:Disease Distal trisomy 5q HP:0000160 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0007930 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001651 biolink:PhenotypicFeature HP:0009777 biolink:PhenotypicFeature HP:0011466 biolink:PhenotypicFeature Orphanet:73245 biolink:Disease Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome HP:0000518 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0002280 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0003444 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature Orphanet:73229 biolink:Disease HANAC syndrome HP:0000083 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0012841 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature Orphanet:436252 biolink:Disease Combined immunodeficiency-enteropathy spectrum HP:0002589 biolink:PhenotypicFeature HP:0004430 biolink:PhenotypicFeature HP:0010766 biolink:PhenotypicFeature HP:0011100 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002223 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0005229 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0025085 biolink:PhenotypicFeature HP:0000778 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0002293 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002722 biolink:PhenotypicFeature HP:0005224 biolink:PhenotypicFeature HP:0100592 biolink:PhenotypicFeature HP:0100889 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001890 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003765 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0010959 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature Orphanet:2898 biolink:Disease X-linked intellectual disability-plagiocephaly syndrome HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002506 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0007000 biolink:PhenotypicFeature HP:0007281 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature Orphanet:3134 biolink:Disease SCARF syndrome HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000051 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000879 biolink:PhenotypicFeature HP:0000973 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001540 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0011084 biolink:PhenotypicFeature HP:0012028 biolink:PhenotypicFeature HP:0012810 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002557 biolink:PhenotypicFeature Orphanet:3138 biolink:Disease Ulnar-mammary syndrome HP:0003063 biolink:PhenotypicFeature HP:0004050 biolink:PhenotypicFeature HP:0004299 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0009751 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100783 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0002221 biolink:PhenotypicFeature HP:0004370 biolink:PhenotypicFeature HP:0006495 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000130 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002557 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002818 biolink:PhenotypicFeature Orphanet:3197 biolink:Disease Hereditary hyperekplexia HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002036 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100633 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature Orphanet:3201 biolink:Disease Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0000277 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004408 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0010185 biolink:PhenotypicFeature HP:0000162 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0010044 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:3199 biolink:Disease Stimmler syndrome HP:0000252 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:3214 biolink:Disease Deaf blind hypopigmentation syndrome, Yemenite type HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001480 biolink:PhenotypicFeature HP:0001572 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0011483 biolink:PhenotypicFeature HP:0000679 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature HP:0200007 biolink:PhenotypicFeature Orphanet:3210 biolink:Disease Summitt syndrome HP:0000098 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0010044 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:2564 biolink:Disease Tetramelic monodactyly HP:0001171 biolink:PhenotypicFeature HP:0012165 biolink:PhenotypicFeature Orphanet:2588 biolink:Disease Myhre syndrome HP:0000160 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0003172 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0003712 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004493 biolink:PhenotypicFeature HP:0008818 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000159 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000036 biolink:PhenotypicFeature HP:0000039 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0030690 biolink:PhenotypicFeature HP:0100333 biolink:PhenotypicFeature HP:0100541 biolink:PhenotypicFeature Orphanet:2521 biolink:Disease Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0000175 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:3451 biolink:Disease Infantile spasms syndrome HP:0001336 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0011121 biolink:PhenotypicFeature Orphanet:2707 biolink:Disease Oculocerebrofacial syndrome, Kaufman type HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001833 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000159 biolink:PhenotypicFeature HP:0000177 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002223 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0010547 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0045074 biolink:PhenotypicFeature HP:0001135 biolink:PhenotypicFeature HP:0001139 biolink:PhenotypicFeature HP:0008665 biolink:PhenotypicFeature Orphanet:357074 biolink:Disease Autosomal recessive cutis laxa type 2, classic type HP:0007552 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0011003 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0025167 biolink:PhenotypicFeature HP:0100874 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0025201 biolink:PhenotypicFeature HP:0025244 biolink:PhenotypicFeature HP:0010989 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0001476 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000253 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000973 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002361 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002761 biolink:PhenotypicFeature HP:0003160 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005272 biolink:PhenotypicFeature HP:0005989 biolink:PhenotypicFeature HP:0006891 biolink:PhenotypicFeature HP:0007392 biolink:PhenotypicFeature HP:0007457 biolink:PhenotypicFeature Orphanet:2672 biolink:Disease Neuhauser-Eichner-Opitz syndrome HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature Orphanet:2703 biolink:Disease Port-wine nevi-mega cisterna magna-hydrocephalus syndrome HP:0001321 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002334 biolink:PhenotypicFeature HP:0005306 biolink:PhenotypicFeature HP:0010733 biolink:PhenotypicFeature HP:0011427 biolink:PhenotypicFeature HP:0012157 biolink:PhenotypicFeature HP:0100308 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature Orphanet:2728 biolink:Disease Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000685 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001018 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0012619 biolink:PhenotypicFeature HP:0012768 biolink:PhenotypicFeature Orphanet:2759 biolink:Disease Imperforate oropharynx-costovertebral anomalies syndrome HP:0000153 biolink:PhenotypicFeature HP:0000159 biolink:PhenotypicFeature HP:0000288 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000600 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000921 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0009896 biolink:PhenotypicFeature HP:0010295 biolink:PhenotypicFeature HP:0011302 biolink:PhenotypicFeature Orphanet:2730 biolink:Disease Postaxial tetramelic oligodactyly HP:0001163 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0012165 biolink:PhenotypicFeature HP:0100257 biolink:PhenotypicFeature Orphanet:2743 biolink:Disease Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome HP:0000221 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0012246 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature Orphanet:2926 biolink:Disease Digital extensor muscle aplasia-polyneuropathy HP:0001460 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003560 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0040129 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0002046 biolink:PhenotypicFeature HP:0004370 biolink:PhenotypicFeature Orphanet:2997 biolink:Disease Ptosis-vocal cord paralysis syndrome HP:0000508 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature Orphanet:2769 biolink:Disease Familial osteodysplasia, Anderson type HP:0000272 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000309 biolink:PhenotypicFeature HP:0000363 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000692 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003103 biolink:PhenotypicFeature HP:0003189 biolink:PhenotypicFeature HP:0005613 biolink:PhenotypicFeature HP:0006352 biolink:PhenotypicFeature HP:0006660 biolink:PhenotypicFeature HP:0009748 biolink:PhenotypicFeature HP:0010443 biolink:PhenotypicFeature HP:0010668 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000921 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature Orphanet:2838 biolink:Disease Renal caliceal diverticuli-deafness syndrome HP:0000077 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000072 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0010935 biolink:PhenotypicFeature Orphanet:3194 biolink:Disease Corneodermatoosseous syndrome HP:0000613 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001131 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001817 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0000230 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0012047 biolink:PhenotypicFeature Orphanet:3459 biolink:Disease Wilson-Turner syndrome HP:0000028 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0010620 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0009909 biolink:PhenotypicFeature Orphanet:3016 biolink:Disease Absent radius-anogenital anomalies syndrome HP:0000238 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0012165 biolink:PhenotypicFeature HP:0100257 biolink:PhenotypicFeature HP:0000143 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0004871 biolink:PhenotypicFeature HP:0025023 biolink:PhenotypicFeature Orphanet:3015 biolink:Disease Radio-renal syndrome HP:0000003 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0010310 biolink:PhenotypicFeature Orphanet:2538 biolink:Disease Microgastria-limb reduction defect syndrome HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001743 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002036 biolink:PhenotypicFeature HP:0002818 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100633 biolink:PhenotypicFeature HP:0100841 biolink:PhenotypicFeature HP:0000003 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0003063 biolink:PhenotypicFeature HP:0005988 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000143 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001331 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001660 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002032 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0002139 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002536 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0004050 biolink:PhenotypicFeature HP:0004736 biolink:PhenotypicFeature HP:0004871 biolink:PhenotypicFeature HP:0006660 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0009827 biolink:PhenotypicFeature HP:0009829 biolink:PhenotypicFeature HP:0012165 biolink:PhenotypicFeature HP:0025023 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0100257 biolink:PhenotypicFeature Orphanet:3412 biolink:Disease VACTERL with hydrocephalus HP:0000104 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002032 biolink:PhenotypicFeature HP:0002410 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0001195 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002139 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0009892 biolink:PhenotypicFeature HP:0010305 biolink:PhenotypicFeature HP:0011027 biolink:PhenotypicFeature HP:0011267 biolink:PhenotypicFeature HP:0100541 biolink:PhenotypicFeature Orphanet:3350 biolink:Disease Tremor-nystagmus-duodenal ulcer syndrome HP:0000639 biolink:PhenotypicFeature HP:0002588 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature Orphanet:3294 biolink:Disease Extensor tendons of finger anomalies HP:0000991 biolink:PhenotypicFeature HP:0001012 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature Orphanet:391 biolink:Disease Classic Hodgkin lymphoma HP:0002665 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0005374 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature Orphanet:282166 biolink:Disease Inherited Creutzfeldt-Jakob disease HP:0000736 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0000751 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002401 biolink:PhenotypicFeature HP:0002446 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0002529 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0005327 biolink:PhenotypicFeature HP:0006943 biolink:PhenotypicFeature HP:0007009 biolink:PhenotypicFeature HP:0007017 biolink:PhenotypicFeature HP:0007158 biolink:PhenotypicFeature HP:0007183 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0010846 biolink:PhenotypicFeature HP:0011099 biolink:PhenotypicFeature HP:0012672 biolink:PhenotypicFeature HP:0025152 biolink:PhenotypicFeature HP:0100256 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0100786 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000746 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0007686 biolink:PhenotypicFeature HP:0010542 biolink:PhenotypicFeature HP:0100292 biolink:PhenotypicFeature HP:0100661 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000605 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature Orphanet:3163 biolink:Disease SHORT syndrome HP:0000023 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0007676 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000485 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000615 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0007392 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000277 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000593 biolink:PhenotypicFeature HP:0000627 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0010668 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature Orphanet:33445 biolink:Disease Neuroectodermal melanolysosomal disease HP:0001010 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002334 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0007754 biolink:PhenotypicFeature HP:0008059 biolink:PhenotypicFeature HP:0012157 biolink:PhenotypicFeature HP:0100308 biolink:PhenotypicFeature Orphanet:100076 biolink:Disease Duodenal neuroendocrine tumor HP:0006723 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0001005 biolink:PhenotypicFeature HP:0001891 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002044 biolink:PhenotypicFeature HP:0002254 biolink:PhenotypicFeature HP:0002572 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003148 biolink:PhenotypicFeature HP:0006575 biolink:PhenotypicFeature HP:0012334 biolink:PhenotypicFeature HP:0100819 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0001899 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002248 biolink:PhenotypicFeature HP:0002249 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002668 biolink:PhenotypicFeature HP:0003154 biolink:PhenotypicFeature HP:0004796 biolink:PhenotypicFeature HP:0005249 biolink:PhenotypicFeature HP:0010446 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012197 biolink:PhenotypicFeature HP:0025428 biolink:PhenotypicFeature HP:0030149 biolink:PhenotypicFeature HP:0030404 biolink:PhenotypicFeature Orphanet:100077 biolink:Disease Jejunal neuroendocrine tumor HP:0006722 biolink:PhenotypicFeature HP:0001005 biolink:PhenotypicFeature HP:0002254 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0003144 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001891 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002572 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003148 biolink:PhenotypicFeature HP:0004796 biolink:PhenotypicFeature HP:0005249 biolink:PhenotypicFeature HP:0012334 biolink:PhenotypicFeature HP:0012432 biolink:PhenotypicFeature HP:0025324 biolink:PhenotypicFeature HP:0030142 biolink:PhenotypicFeature HP:0100819 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002044 biolink:PhenotypicFeature HP:0002109 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0010446 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0030149 biolink:PhenotypicFeature Orphanet:1101 biolink:Disease Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000485 biolink:PhenotypicFeature HP:0000526 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000598 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001131 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001704 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0004327 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0009004 biolink:PhenotypicFeature HP:0009465 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0200007 biolink:PhenotypicFeature Orphanet:100078 biolink:Disease Ileal neuroendocrine tumor HP:0001962 biolink:PhenotypicFeature HP:0002044 biolink:PhenotypicFeature HP:0002109 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0010446 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0030149 biolink:PhenotypicFeature HP:0006722 biolink:PhenotypicFeature HP:0001005 biolink:PhenotypicFeature HP:0002254 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0003144 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001891 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002572 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003148 biolink:PhenotypicFeature HP:0004796 biolink:PhenotypicFeature HP:0005249 biolink:PhenotypicFeature HP:0012334 biolink:PhenotypicFeature HP:0012432 biolink:PhenotypicFeature HP:0025324 biolink:PhenotypicFeature HP:0030142 biolink:PhenotypicFeature HP:0100819 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature Orphanet:276432 biolink:Disease Ogden syndrome HP:0000270 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000290 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000973 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002000 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002362 biolink:PhenotypicFeature HP:0002457 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0004415 biolink:PhenotypicFeature HP:0009931 biolink:PhenotypicFeature HP:0010803 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0025104 biolink:PhenotypicFeature HP:0030149 biolink:PhenotypicFeature Orphanet:401768 biolink:Disease Proximal myopathy with extrapyramidal signs HP:0001263 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002310 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0003687 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0007153 biolink:PhenotypicFeature HP:0007158 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0012751 biolink:PhenotypicFeature HP:0030230 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000831 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature Orphanet:178464 biolink:Disease Hereditary myopathy with early respiratory failure HP:0001288 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002111 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0002792 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003555 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0003722 biolink:PhenotypicFeature HP:0003803 biolink:PhenotypicFeature HP:0003805 biolink:PhenotypicFeature HP:0008800 biolink:PhenotypicFeature HP:0008978 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0012764 biolink:PhenotypicFeature HP:0031237 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0008963 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0100293 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature Orphanet:486815 biolink:Disease Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome HP:0001388 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0007502 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000467 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0003687 biolink:PhenotypicFeature HP:0003690 biolink:PhenotypicFeature HP:0003789 biolink:PhenotypicFeature HP:0010647 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001612 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0025502 biolink:PhenotypicFeature Orphanet:98853 biolink:Disease Autosomal dominant Emery-Dreifuss muscular dystrophy HP:0000767 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002486 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0006785 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001771 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003141 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0003805 biolink:PhenotypicFeature HP:0004631 biolink:PhenotypicFeature HP:0008948 biolink:PhenotypicFeature HP:0008956 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0011807 biolink:PhenotypicFeature HP:0030117 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001678 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0005115 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0001605 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0005155 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:98855 biolink:Disease Autosomal recessive Emery-Dreifuss muscular dystrophy HP:0001771 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003141 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0003805 biolink:PhenotypicFeature HP:0004631 biolink:PhenotypicFeature HP:0005115 biolink:PhenotypicFeature HP:0005155 biolink:PhenotypicFeature HP:0008948 biolink:PhenotypicFeature HP:0008956 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0011807 biolink:PhenotypicFeature HP:0030117 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002486 biolink:PhenotypicFeature HP:0002600 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0006785 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0001678 biolink:PhenotypicFeature Orphanet:98863 biolink:Disease X-linked Emery-Dreifuss muscular dystrophy HP:0000767 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002486 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0006785 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0003141 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0003805 biolink:PhenotypicFeature HP:0004631 biolink:PhenotypicFeature HP:0008948 biolink:PhenotypicFeature HP:0008956 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0011807 biolink:PhenotypicFeature HP:0030117 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001678 biolink:PhenotypicFeature HP:0001771 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0005115 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0001605 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0005155 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:411493 biolink:Disease Pontocerebellar hypoplasia type 10 HP:0000750 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0010862 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002538 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0009879 biolink:PhenotypicFeature HP:0025405 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature Orphanet:169186 biolink:Disease Autosomal recessive centronuclear myopathy HP:0000218 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0003323 biolink:PhenotypicFeature HP:0003391 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0003700 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001349 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0003273 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003403 biolink:PhenotypicFeature HP:0003687 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0003803 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature Orphanet:99944 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2K HP:0000762 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0009130 biolink:PhenotypicFeature HP:0011096 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature Orphanet:34515 biolink:Disease FKRP-related limb-girdle muscular dystrophy R9 HP:0003236 biolink:PhenotypicFeature HP:0003560 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0030099 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0003547 biolink:PhenotypicFeature HP:0003749 biolink:PhenotypicFeature HP:0005109 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0030092 biolink:PhenotypicFeature Orphanet:171881 biolink:Disease Cap myopathy HP:0000218 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0004303 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002616 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0002943 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0003391 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0003700 biolink:PhenotypicFeature HP:0006673 biolink:PhenotypicFeature HP:0007110 biolink:PhenotypicFeature HP:0007210 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0011703 biolink:PhenotypicFeature HP:0030200 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature Orphanet:457193 biolink:Disease Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000219 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0007678 biolink:PhenotypicFeature Orphanet:319182 biolink:Disease Wiedemann-Steiner syndrome HP:0004322 biolink:PhenotypicFeature HP:0006712 biolink:PhenotypicFeature HP:0007930 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0010485 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0100581 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000744 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004540 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002361 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature Orphanet:363623 biolink:Disease GMPPB-related limb-girdle muscular dystrophy R19 HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000467 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0003327 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003403 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0006698 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0008959 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0030192 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature Orphanet:363454 biolink:Disease BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy HP:0002355 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0003391 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0005853 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0005109 biolink:PhenotypicFeature HP:0003547 biolink:PhenotypicFeature HP:0030237 biolink:PhenotypicFeature Orphanet:178145 biolink:Disease Moderate multiminicore disease with hand involvement HP:0008959 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0012391 biolink:PhenotypicFeature HP:0003803 biolink:PhenotypicFeature HP:0004976 biolink:PhenotypicFeature HP:0005001 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003327 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0008954 biolink:PhenotypicFeature Orphanet:178148 biolink:Disease Antenatal multiminicore disease with arthrogryposis multiplex congenita HP:0000028 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001591 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002792 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0003327 biolink:PhenotypicFeature HP:0003789 biolink:PhenotypicFeature HP:0008050 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0100297 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature Orphanet:314632 biolink:Disease ATP13A2-related juvenile neuronal ceroid lipofuscinosis HP:0002063 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002506 biolink:PhenotypicFeature HP:0002548 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0025331 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002339 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature Orphanet:404499 biolink:Disease Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency HP:0000750 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0001152 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature Orphanet:171430 biolink:Disease Severe congenital nemaline myopathy HP:0000765 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001623 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002375 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003327 biolink:PhenotypicFeature HP:0003798 biolink:PhenotypicFeature HP:0003803 biolink:PhenotypicFeature HP:0005855 biolink:PhenotypicFeature HP:0006829 biolink:PhenotypicFeature HP:0009025 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000775 biolink:PhenotypicFeature HP:0000883 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001349 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0007514 biolink:PhenotypicFeature Orphanet:171436 biolink:Disease Typical nemaline myopathy HP:0000218 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0003325 biolink:PhenotypicFeature HP:0003327 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0003722 biolink:PhenotypicFeature HP:0003803 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0030198 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0001349 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002375 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002877 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003798 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0030196 biolink:PhenotypicFeature HP:0030200 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature Orphanet:324604 biolink:Disease Classic multiminicore myopathy HP:0003741 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0002111 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0002877 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0003327 biolink:PhenotypicFeature HP:0003700 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004889 biolink:PhenotypicFeature HP:0005991 biolink:PhenotypicFeature HP:0009058 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0100295 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001667 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0030091 biolink:PhenotypicFeature Orphanet:97355 biolink:Disease Caribbean parkinsonism HP:0001300 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0000511 biolink:PhenotypicFeature HP:0000571 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000727 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0001278 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002186 biolink:PhenotypicFeature HP:0002193 biolink:PhenotypicFeature HP:0002345 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0005341 biolink:PhenotypicFeature HP:0007045 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0010549 biolink:PhenotypicFeature HP:0012753 biolink:PhenotypicFeature HP:0030902 biolink:PhenotypicFeature HP:0100315 biolink:PhenotypicFeature Orphanet:420485 biolink:Disease Cranio-cervical dystonia with laryngeal and upper-limb involvement HP:0000473 biolink:PhenotypicFeature HP:0000643 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0007351 biolink:PhenotypicFeature HP:0012477 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001600 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0012048 biolink:PhenotypicFeature Orphanet:309854 biolink:Disease Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0000338 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001413 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001901 biolink:PhenotypicFeature HP:0002040 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002345 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002453 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010927 biolink:PhenotypicFeature HP:0012447 biolink:PhenotypicFeature HP:0012751 biolink:PhenotypicFeature HP:0040135 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0002154 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002446 biolink:PhenotypicFeature HP:0004337 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0012343 biolink:PhenotypicFeature HP:0025196 biolink:PhenotypicFeature HP:0025321 biolink:PhenotypicFeature HP:0100513 biolink:PhenotypicFeature Orphanet:93958 biolink:Disease Oromandibular dystonia HP:0000277 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0010754 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0000159 biolink:PhenotypicFeature HP:0000273 biolink:PhenotypicFeature HP:0000366 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0000643 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0003763 biolink:PhenotypicFeature HP:0007325 biolink:PhenotypicFeature HP:0012049 biolink:PhenotypicFeature HP:0031008 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature Orphanet:412057 biolink:Disease Autosomal recessive cerebellar ataxia due to STUB1 deficiency HP:0001260 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0005328 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature HP:0012896 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000640 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002346 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0007371 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0012104 biolink:PhenotypicFeature HP:0012110 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0001094 biolink:PhenotypicFeature HP:0001105 biolink:PhenotypicFeature HP:0001152 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002679 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0012547 biolink:PhenotypicFeature HP:0012569 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature Orphanet:411602 biolink:Disease Hereditary late-onset Parkinson disease HP:0001300 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002304 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002548 biolink:PhenotypicFeature HP:0004409 biolink:PhenotypicFeature HP:0005340 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0000338 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0000744 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002171 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002362 biolink:PhenotypicFeature HP:0002367 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0004926 biolink:PhenotypicFeature HP:0031435 biolink:PhenotypicFeature HP:0100315 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature Orphanet:363654 biolink:Disease X-linked parkinsonism-spasticity syndrome HP:0002322 biolink:PhenotypicFeature HP:0002396 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002506 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0007082 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0012407 biolink:PhenotypicFeature Orphanet:171695 biolink:Disease Parkinsonian-pyramidal syndrome HP:0001300 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0000338 biolink:PhenotypicFeature HP:0000514 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002362 biolink:PhenotypicFeature HP:0002367 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0011960 biolink:PhenotypicFeature HP:0031435 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0100315 biolink:PhenotypicFeature Orphanet:238455 biolink:Disease Infantile dystonia-parkinsonism HP:0001300 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0000338 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002310 biolink:PhenotypicFeature HP:0002375 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0004354 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0010553 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature Orphanet:267 biolink:Disease Calpain-3-related limb-girdle muscular dystrophy R1 HP:0003324 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003089 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003560 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0005879 biolink:PhenotypicFeature HP:0006466 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0008946 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0009060 biolink:PhenotypicFeature HP:0012037 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0001239 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature Orphanet:119 biolink:Disease Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 HP:0000750 biolink:PhenotypicFeature HP:0002058 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003391 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0003749 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0002913 biolink:PhenotypicFeature Orphanet:53583 biolink:Disease Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity HP:0007166 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002131 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature Orphanet:370980 biolink:Disease Congenital muscular dystrophy without intellectual disability HP:0003741 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001349 biolink:PhenotypicFeature HP:0001771 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003797 biolink:PhenotypicFeature HP:0007126 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0012548 biolink:PhenotypicFeature HP:0030099 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0002350 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002282 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:169189 biolink:Disease Autosomal dominant centronuclear myopathy HP:0003687 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000883 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001436 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003803 biolink:PhenotypicFeature HP:0004488 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0010546 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000544 biolink:PhenotypicFeature HP:0001048 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002522 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0003738 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0012768 biolink:PhenotypicFeature HP:0002047 biolink:PhenotypicFeature Orphanet:307 biolink:Disease Juvenile myoclonic epilepsy HP:0002197 biolink:PhenotypicFeature HP:0002392 biolink:PhenotypicFeature HP:0007000 biolink:PhenotypicFeature HP:0000153 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0007207 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:508410 biolink:Disease Familial intestinal malrotation HP:0000316 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002580 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature Orphanet:86812 biolink:Disease POMT1-related limb-girdle muscular dystrophy R11 HP:0002355 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003391 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0003560 biolink:PhenotypicFeature HP:0003687 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0003733 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0500014 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0003325 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0003700 biolink:PhenotypicFeature HP:0003803 biolink:PhenotypicFeature HP:0010794 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0031108 biolink:PhenotypicFeature Orphanet:217012 biolink:Disease Spinocerebellar ataxia type 31 HP:0001260 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature Orphanet:280200 biolink:Disease Microform holoprosencephaly HP:0000453 biolink:PhenotypicFeature HP:0006315 biolink:PhenotypicFeature HP:0010644 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000871 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002247 biolink:PhenotypicFeature HP:0002564 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0009914 biolink:PhenotypicFeature Orphanet:98772 biolink:Disease Spinocerebellar ataxia type 19/22 HP:0001251 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0006938 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002370 biolink:PhenotypicFeature HP:0002396 biolink:PhenotypicFeature HP:0007772 biolink:PhenotypicFeature Orphanet:211017 biolink:Disease Spinocerebellar ataxia type 30 HP:0001260 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0000640 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature Orphanet:101082 biolink:Disease Charcot-Marie-Tooth disease type 1B HP:0001324 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000615 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003469 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0003712 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature Orphanet:423296 biolink:Disease Spinocerebellar ataxia type 38 HP:0000639 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0000514 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature Orphanet:101081 biolink:Disease Charcot-Marie-Tooth disease type 1A HP:0001265 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003431 biolink:PhenotypicFeature HP:0003448 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0010871 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0007131 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0009113 biolink:PhenotypicFeature HP:0010833 biolink:PhenotypicFeature HP:0030834 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature Orphanet:457260 biolink:Disease X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0001249 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002539 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature Orphanet:62 biolink:Disease Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 HP:0001771 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003391 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0003560 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0003707 biolink:PhenotypicFeature HP:0006467 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0002943 biolink:PhenotypicFeature Orphanet:98902 biolink:Disease Amish nemaline myopathy HP:0000768 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0003044 biolink:PhenotypicFeature HP:0003273 biolink:PhenotypicFeature HP:0003323 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003803 biolink:PhenotypicFeature HP:0007126 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:590 biolink:Disease Congenital myasthenic syndrome HP:0000467 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002882 biolink:PhenotypicFeature HP:0003473 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0004661 biolink:PhenotypicFeature HP:0004889 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001283 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0002872 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0004885 biolink:PhenotypicFeature HP:0008443 biolink:PhenotypicFeature HP:0010536 biolink:PhenotypicFeature HP:0011469 biolink:PhenotypicFeature HP:0030842 biolink:PhenotypicFeature HP:0100285 biolink:PhenotypicFeature HP:0100295 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001612 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0003325 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0010307 biolink:PhenotypicFeature HP:0011398 biolink:PhenotypicFeature HP:0012801 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002392 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0005943 biolink:PhenotypicFeature HP:0007178 biolink:PhenotypicFeature HP:0025401 biolink:PhenotypicFeature HP:0030208 biolink:PhenotypicFeature Orphanet:609 biolink:Disease Tibial muscular dystrophy HP:0002355 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0003687 biolink:PhenotypicFeature HP:0003805 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0009049 biolink:PhenotypicFeature HP:0009058 biolink:PhenotypicFeature HP:0031374 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0003731 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0008959 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0009077 biolink:PhenotypicFeature Orphanet:423 biolink:Disease Malignant hyperthermia of anesthesia HP:0001942 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002047 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0002905 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0004755 biolink:PhenotypicFeature HP:0004756 biolink:PhenotypicFeature HP:0011964 biolink:PhenotypicFeature HP:0012416 biolink:PhenotypicFeature HP:0031320 biolink:PhenotypicFeature HP:0040290 biolink:PhenotypicFeature HP:0001722 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002913 biolink:PhenotypicFeature HP:0003256 biolink:PhenotypicFeature HP:0006554 biolink:PhenotypicFeature HP:0006682 biolink:PhenotypicFeature HP:0008331 biolink:PhenotypicFeature HP:0008942 biolink:PhenotypicFeature HP:0008978 biolink:PhenotypicFeature HP:0009045 biolink:PhenotypicFeature HP:3000005 biolink:PhenotypicFeature Orphanet:644 biolink:Disease NARP syndrome HP:0000365 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0001133 biolink:PhenotypicFeature HP:0001136 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0003739 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007117 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0007814 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012751 biolink:PhenotypicFeature HP:0030588 biolink:PhenotypicFeature HP:0008316 biolink:PhenotypicFeature Orphanet:684 biolink:Disease Paramyotonia congenita of Von Eulenburg HP:0001319 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002486 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0004875 biolink:PhenotypicFeature HP:0010548 biolink:PhenotypicFeature HP:0011809 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012892 biolink:PhenotypicFeature HP:0012899 biolink:PhenotypicFeature HP:0012900 biolink:PhenotypicFeature HP:0012901 biolink:PhenotypicFeature HP:0012903 biolink:PhenotypicFeature HP:0012904 biolink:PhenotypicFeature HP:0031372 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0008153 biolink:PhenotypicFeature HP:0011042 biolink:PhenotypicFeature Orphanet:171433 biolink:Disease Intermediate nemaline myopathy HP:0003324 biolink:PhenotypicFeature HP:0003798 biolink:PhenotypicFeature HP:0006829 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002058 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002375 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003803 biolink:PhenotypicFeature HP:0005855 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001349 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature Orphanet:424107 biolink:Disease Congenital myopathy with myasthenic-like onset HP:0003701 biolink:PhenotypicFeature HP:0003789 biolink:PhenotypicFeature HP:0003803 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0003473 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002047 biolink:PhenotypicFeature HP:0002058 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0040191 biolink:PhenotypicFeature Orphanet:99811 biolink:Disease Neuronal intestinal pseudoobstruction HP:0000695 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature Orphanet:64752 biolink:Disease Hereditary sensory and autonomic neuropathy type 5 HP:0000164 biolink:PhenotypicFeature HP:0000168 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000970 biolink:PhenotypicFeature HP:0001058 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0002661 biolink:PhenotypicFeature HP:0007021 biolink:PhenotypicFeature HP:0007249 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature Orphanet:219 biolink:Disease Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 HP:0002362 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0008948 biolink:PhenotypicFeature HP:0008956 biolink:PhenotypicFeature HP:0009055 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature Orphanet:324581 biolink:Disease Benign Samaritan congenital myopathy HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001612 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0002058 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0002795 biolink:PhenotypicFeature HP:0003687 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0031139 biolink:PhenotypicFeature HP:0031237 biolink:PhenotypicFeature Orphanet:357043 biolink:Disease Amyotrophic lateral sclerosis type 4 HP:0002460 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature Orphanet:369840 biolink:Disease TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0000518 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003560 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0006785 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature HP:0012762 biolink:PhenotypicFeature HP:0040081 biolink:PhenotypicFeature HP:0100295 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0025313 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0005133 biolink:PhenotypicFeature Orphanet:101111 biolink:Disease Spinocerebellar ataxia type 25 HP:0007328 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0011468 biolink:PhenotypicFeature HP:0031422 biolink:PhenotypicFeature HP:0100275 biolink:PhenotypicFeature HP:0000317 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0000012 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0002522 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003387 biolink:PhenotypicFeature HP:0003445 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0006937 biolink:PhenotypicFeature Orphanet:458798 biolink:Disease Spinocerebellar ataxia type 41 HP:0002066 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature Orphanet:458803 biolink:Disease Spinocerebellar ataxia type 42 HP:0001260 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0012759 biolink:PhenotypicFeature HP:0000012 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0001152 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature HP:0006938 biolink:PhenotypicFeature HP:0007979 biolink:PhenotypicFeature HP:0031166 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000571 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature HP:0002346 biolink:PhenotypicFeature HP:0002511 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003765 biolink:PhenotypicFeature HP:0007351 biolink:PhenotypicFeature HP:0007366 biolink:PhenotypicFeature HP:0012708 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature Orphanet:306741 biolink:Disease Hemidystonia-hemiatrophy syndrome HP:0001269 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0012751 biolink:PhenotypicFeature HP:0001787 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0100556 biolink:PhenotypicFeature HP:0000245 biolink:PhenotypicFeature HP:0000250 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0010540 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0012106 biolink:PhenotypicFeature Orphanet:98761 biolink:Disease Spinocerebellar ataxia type 10 HP:0001260 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000640 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002168 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0007772 biolink:PhenotypicFeature HP:0011198 biolink:PhenotypicFeature HP:0030186 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0000012 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0011153 biolink:PhenotypicFeature Orphanet:100996 biolink:Disease Autosomal recessive spastic paraplegia type 15 HP:0002079 biolink:PhenotypicFeature HP:0000009 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001146 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0006986 biolink:PhenotypicFeature HP:0007024 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0008969 biolink:PhenotypicFeature HP:0012045 biolink:PhenotypicFeature HP:0030506 biolink:PhenotypicFeature HP:0030892 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000118 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001152 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002145 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature Orphanet:100998 biolink:Disease Autosomal dominant spastic paraplegia type 17 HP:0001347 biolink:PhenotypicFeature HP:0001436 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0009130 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0030237 biolink:PhenotypicFeature HP:0030838 biolink:PhenotypicFeature HP:0030839 biolink:PhenotypicFeature HP:0031374 biolink:PhenotypicFeature HP:0040131 biolink:PhenotypicFeature Orphanet:94125 biolink:Disease Recessive mitochondrial ataxia syndrome HP:0000602 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002403 biolink:PhenotypicFeature HP:0002406 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0003390 biolink:PhenotypicFeature HP:0003542 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012079 biolink:PhenotypicFeature HP:0012251 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature Orphanet:251347 biolink:Disease Ataxia-telangiectasia-like disorder HP:0002307 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0010544 biolink:PhenotypicFeature HP:0040010 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000514 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002198 biolink:PhenotypicFeature HP:0002310 biolink:PhenotypicFeature HP:0003438 biolink:PhenotypicFeature HP:0100953 biolink:PhenotypicFeature HP:0000617 biolink:PhenotypicFeature HP:0000640 biolink:PhenotypicFeature HP:0000641 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature Orphanet:101000 biolink:Disease Autosomal recessive spastic paraplegia type 20 HP:0000316 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005922 biolink:PhenotypicFeature HP:0011094 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0005288 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0025269 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature Orphanet:101001 biolink:Disease Autosomal recessive spastic paraplegia type 21 HP:0000726 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002186 biolink:PhenotypicFeature HP:0002476 biolink:PhenotypicFeature HP:0003134 biolink:PhenotypicFeature HP:0006892 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0010526 biolink:PhenotypicFeature HP:0012075 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature Orphanet:101003 biolink:Disease Autosomal recessive spastic paraplegia type 23 HP:0001003 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0012701 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002218 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:101004 biolink:Disease Autosomal recessive spastic paraplegia type 24 HP:0001257 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0012407 biolink:PhenotypicFeature HP:0030051 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature Orphanet:101006 biolink:Disease Autosomal recessive spastic paraplegia type 26 HP:0001249 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0006938 biolink:PhenotypicFeature HP:0007024 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0040171 biolink:PhenotypicFeature Orphanet:101007 biolink:Disease Autosomal recessive spastic paraplegia type 27 HP:0001258 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0005340 biolink:PhenotypicFeature HP:0006938 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0007377 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature Orphanet:98765 biolink:Disease Spinocerebellar ataxia type 4 HP:0002495 biolink:PhenotypicFeature HP:0003438 biolink:PhenotypicFeature HP:0010830 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002333 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0003390 biolink:PhenotypicFeature HP:0007002 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature Orphanet:98764 biolink:Disease Spinocerebellar ataxia type 27 HP:0000640 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003390 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000642 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0002304 biolink:PhenotypicFeature HP:0010526 biolink:PhenotypicFeature Orphanet:98769 biolink:Disease Spinocerebellar ataxia type 15/16 HP:0001251 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002345 biolink:PhenotypicFeature HP:0002346 biolink:PhenotypicFeature HP:0007351 biolink:PhenotypicFeature HP:0030188 biolink:PhenotypicFeature Orphanet:98768 biolink:Disease Spinocerebellar ataxia type 13 HP:0000639 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0006886 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0010794 biolink:PhenotypicFeature HP:0030187 biolink:PhenotypicFeature HP:0000012 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0008003 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0025331 biolink:PhenotypicFeature Orphanet:314404 biolink:Disease Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0000407 biolink:PhenotypicFeature HP:0030050 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0003287 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002200 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature HP:0002346 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002476 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002529 biolink:PhenotypicFeature HP:0002921 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0003550 biolink:PhenotypicFeature HP:0007082 biolink:PhenotypicFeature HP:0007366 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature Orphanet:98771 biolink:Disease Spinocerebellar ataxia type 18 HP:0001284 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0002600 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0010546 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002346 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0030187 biolink:PhenotypicFeature Orphanet:401866 biolink:Disease Childhood-onset spasticity with hyperglycinemia HP:0002191 biolink:PhenotypicFeature HP:0008288 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0001264 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002415 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0002928 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0008945 biolink:PhenotypicFeature HP:0100561 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:423275 biolink:Disease Spinocerebellar ataxia type 40 HP:0000511 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002168 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0006879 biolink:PhenotypicFeature Orphanet:313772 biolink:Disease Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome HP:0000508 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0008316 biolink:PhenotypicFeature Orphanet:254343 biolink:Disease Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome HP:0000648 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0000182 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0006895 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0200049 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature Orphanet:447896 biolink:Disease Tremor-ataxia-central hypomyelination syndrome HP:0000044 biolink:PhenotypicFeature HP:0000511 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000617 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002403 biolink:PhenotypicFeature HP:0002415 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0003429 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005341 biolink:PhenotypicFeature HP:0025460 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0006858 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0040168 biolink:PhenotypicFeature Orphanet:314603 biolink:Disease Autosomal recessive spastic ataxia with leukoencephalopathy HP:0001321 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002497 biolink:PhenotypicFeature HP:0000012 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002352 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature Orphanet:255241 biolink:Disease Leigh syndrome with leukodystrophy HP:0007183 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002415 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0002928 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0008972 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001941 biolink:PhenotypicFeature Orphanet:75567 biolink:Disease Primary progressive freezing gait HP:0002172 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002362 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007772 biolink:PhenotypicFeature HP:0012452 biolink:PhenotypicFeature HP:0100315 biolink:PhenotypicFeature Orphanet:314978 biolink:Disease X-linked non progressive cerebellar ataxia HP:0002470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001152 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002345 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0008935 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature Orphanet:1175 biolink:Disease X-linked progressive cerebellar ataxia HP:0002073 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001152 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0002503 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003445 biolink:PhenotypicFeature HP:0003447 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0200101 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature Orphanet:157941 biolink:Disease Huntington disease-like 1 HP:0002072 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000746 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000514 biolink:PhenotypicFeature HP:0000570 biolink:PhenotypicFeature HP:0000617 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000711 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature HP:0002171 biolink:PhenotypicFeature HP:0002311 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002375 biolink:PhenotypicFeature HP:0002457 biolink:PhenotypicFeature HP:0002533 biolink:PhenotypicFeature HP:0003043 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0006961 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0008003 biolink:PhenotypicFeature HP:0011446 biolink:PhenotypicFeature HP:0040201 biolink:PhenotypicFeature Orphanet:98934 biolink:Disease Huntington disease-like 2 HP:0000751 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002060 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002340 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002476 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0010994 biolink:PhenotypicFeature Orphanet:459056 biolink:Disease Autosomal recessive spastic paraplegia type 75 HP:0001249 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0012511 biolink:PhenotypicFeature HP:0030187 biolink:PhenotypicFeature Orphanet:306669 biolink:Disease Hemiparkinsonism-hemiatrophy syndrome HP:0001260 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0011331 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0012768 biolink:PhenotypicFeature HP:0100556 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0100308 biolink:PhenotypicFeature Orphanet:98914 biolink:Disease Presynaptic congenital myasthenic syndromes HP:0100295 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001612 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0003325 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0010307 biolink:PhenotypicFeature HP:0011398 biolink:PhenotypicFeature HP:0012801 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002392 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0005943 biolink:PhenotypicFeature HP:0007178 biolink:PhenotypicFeature HP:0025401 biolink:PhenotypicFeature HP:0030208 biolink:PhenotypicFeature HP:0000467 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002882 biolink:PhenotypicFeature HP:0003473 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0004661 biolink:PhenotypicFeature HP:0004889 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001283 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0002872 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0004885 biolink:PhenotypicFeature HP:0008443 biolink:PhenotypicFeature HP:0010536 biolink:PhenotypicFeature HP:0011469 biolink:PhenotypicFeature HP:0030842 biolink:PhenotypicFeature HP:0100285 biolink:PhenotypicFeature Orphanet:98913 biolink:Disease Postsynaptic congenital myasthenic syndromes HP:0001324 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001446 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0003402 biolink:PhenotypicFeature HP:0003403 biolink:PhenotypicFeature HP:0003443 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0003547 biolink:PhenotypicFeature HP:0003722 biolink:PhenotypicFeature HP:0003803 biolink:PhenotypicFeature HP:0009005 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0030199 biolink:PhenotypicFeature HP:0410011 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002792 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0005659 biolink:PhenotypicFeature HP:0009077 biolink:PhenotypicFeature HP:0012515 biolink:PhenotypicFeature HP:0012764 biolink:PhenotypicFeature HP:0030196 biolink:PhenotypicFeature HP:0031108 biolink:PhenotypicFeature HP:0031374 biolink:PhenotypicFeature Orphanet:94122 biolink:Disease Cerebellar ataxia, Cayman type HP:0002470 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0000479 biolink:PhenotypicFeature Orphanet:247815 biolink:Disease Autosomal recessive ataxia due to PEX10 deficiency HP:0002073 biolink:PhenotypicFeature HP:0007002 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007772 biolink:PhenotypicFeature HP:0008167 biolink:PhenotypicFeature HP:0010965 biolink:PhenotypicFeature HP:0100275 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002457 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0011499 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature Orphanet:353 biolink:Disease Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 HP:0000158 biolink:PhenotypicFeature HP:0001667 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0003707 biolink:PhenotypicFeature HP:0003730 biolink:PhenotypicFeature HP:0004311 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0030007 biolink:PhenotypicFeature HP:0100284 biolink:PhenotypicFeature HP:0100297 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0001771 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003391 biolink:PhenotypicFeature HP:0003722 biolink:PhenotypicFeature HP:0025169 biolink:PhenotypicFeature HP:0030051 biolink:PhenotypicFeature Orphanet:98915 biolink:Disease Synaptic congenital myasthenic syndromes HP:0003324 biolink:PhenotypicFeature HP:0003403 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0000467 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0001612 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003398 biolink:PhenotypicFeature HP:0003436 biolink:PhenotypicFeature HP:0003443 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0030203 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002783 biolink:PhenotypicFeature HP:0002791 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003327 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0003803 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0007941 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0030211 biolink:PhenotypicFeature HP:0000207 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0001667 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0003554 biolink:PhenotypicFeature HP:0006251 biolink:PhenotypicFeature HP:0030237 biolink:PhenotypicFeature Orphanet:437572 biolink:Disease MYH7-related late-onset scapuloperoneal muscular dystrophy HP:0000822 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003547 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0008963 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0100297 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003687 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0003724 biolink:PhenotypicFeature HP:0009072 biolink:PhenotypicFeature HP:0009129 biolink:PhenotypicFeature HP:0011808 biolink:PhenotypicFeature HP:0030237 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011711 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0030664 biolink:PhenotypicFeature HP:0031108 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001436 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002058 biolink:PhenotypicFeature HP:0003029 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0003555 biolink:PhenotypicFeature HP:0005162 biolink:PhenotypicFeature HP:0005991 biolink:PhenotypicFeature HP:0006251 biolink:PhenotypicFeature HP:0006467 biolink:PhenotypicFeature HP:0006510 biolink:PhenotypicFeature HP:0008800 biolink:PhenotypicFeature HP:0008956 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0010505 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature Orphanet:206549 biolink:Disease Anoctamin-5-related limb-girdle muscular dystrophy R12 HP:0001638 biolink:PhenotypicFeature HP:0002913 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003089 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0006466 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0009129 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0012785 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0006785 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0001430 biolink:PhenotypicFeature HP:0002816 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003445 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003482 biolink:PhenotypicFeature HP:0003555 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0003730 biolink:PhenotypicFeature HP:0003738 biolink:PhenotypicFeature HP:0004303 biolink:PhenotypicFeature HP:0007210 biolink:PhenotypicFeature HP:0008988 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0009050 biolink:PhenotypicFeature HP:0012548 biolink:PhenotypicFeature HP:0031237 biolink:PhenotypicFeature HP:0100295 biolink:PhenotypicFeature HP:0100297 biolink:PhenotypicFeature HP:0001239 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature Orphanet:98905 biolink:Disease Congenital multicore myopathy with external ophthalmoplegia HP:0000544 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0002058 biolink:PhenotypicFeature HP:0002795 biolink:PhenotypicFeature HP:0003327 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0003560 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0003803 biolink:PhenotypicFeature HP:0009025 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0011805 biolink:PhenotypicFeature HP:0011807 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0031237 biolink:PhenotypicFeature HP:0100293 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001349 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003547 biolink:PhenotypicFeature HP:0003798 biolink:PhenotypicFeature HP:0008850 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0011399 biolink:PhenotypicFeature HP:0012036 biolink:PhenotypicFeature HP:0031139 biolink:PhenotypicFeature HP:0040191 biolink:PhenotypicFeature Orphanet:353327 biolink:Disease Congenital myasthenic syndromes with glycosylation defect HP:0000218 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003325 biolink:PhenotypicFeature HP:0003403 biolink:PhenotypicFeature HP:0003473 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0030191 biolink:PhenotypicFeature HP:0030202 biolink:PhenotypicFeature HP:0030205 biolink:PhenotypicFeature HP:0100301 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0003200 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0003391 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0003803 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0009028 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature Orphanet:254892 biolink:Disease Autosomal dominant progressive external ophthalmoplegia HP:0012378 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000833 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001349 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002375 biolink:PhenotypicFeature HP:0002396 biolink:PhenotypicFeature HP:0002578 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000544 biolink:PhenotypicFeature HP:0000338 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003200 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0003547 biolink:PhenotypicFeature HP:0003688 biolink:PhenotypicFeature HP:0003690 biolink:PhenotypicFeature HP:0003731 biolink:PhenotypicFeature HP:0003737 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0012103 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0004308 biolink:PhenotypicFeature HP:0005110 biolink:PhenotypicFeature HP:0007042 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012664 biolink:PhenotypicFeature HP:0000017 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000836 biolink:PhenotypicFeature HP:0000853 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001946 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003438 biolink:PhenotypicFeature HP:0007302 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature Orphanet:254886 biolink:Disease Autosomal recessive progressive external ophthalmoplegia HP:0000298 biolink:PhenotypicFeature HP:0000544 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003200 biolink:PhenotypicFeature HP:0003390 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003688 biolink:PhenotypicFeature HP:0003737 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000479 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001621 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002345 biolink:PhenotypicFeature HP:0002362 biolink:PhenotypicFeature HP:0002396 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002548 biolink:PhenotypicFeature HP:0002921 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0007641 biolink:PhenotypicFeature HP:0025403 biolink:PhenotypicFeature HP:0030237 biolink:PhenotypicFeature HP:0100295 biolink:PhenotypicFeature HP:0100653 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:320385 biolink:Disease Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0002205 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000338 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000475 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002871 biolink:PhenotypicFeature Orphanet:320380 biolink:Disease Autosomal recessive spastic paraplegia type 54 HP:0001249 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0007766 biolink:PhenotypicFeature HP:0008366 biolink:PhenotypicFeature HP:0030891 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006970 biolink:PhenotypicFeature HP:0030051 biolink:PhenotypicFeature Orphanet:320375 biolink:Disease Autosomal recessive spastic paraplegia type 55 HP:0000648 biolink:PhenotypicFeature HP:0001138 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003383 biolink:PhenotypicFeature HP:0003448 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0007042 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0008963 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:320370 biolink:Disease Autosomal recessive spastic paraplegia type 43 HP:0002064 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0003438 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006466 biolink:PhenotypicFeature HP:0007083 biolink:PhenotypicFeature HP:0012785 biolink:PhenotypicFeature Orphanet:209970 biolink:Disease Episodic ataxia type 7 HP:0001260 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002131 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002411 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:284271 biolink:Disease Autosomal recessive cerebellar ataxia-psychomotor delay syndrome HP:0000617 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0007979 biolink:PhenotypicFeature Orphanet:95434 biolink:Disease Autosomal recessive cerebellar ataxia-movement disorder syndrome HP:0002066 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0002366 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0025404 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000570 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007338 biolink:PhenotypicFeature HP:0010522 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature Orphanet:88628 biolink:Disease Posterior column ataxia-retinitis pigmentosa syndrome HP:0012532 biolink:PhenotypicFeature HP:0012785 biolink:PhenotypicFeature HP:0030147 biolink:PhenotypicFeature HP:0040132 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0007737 biolink:PhenotypicFeature HP:0040078 biolink:PhenotypicFeature HP:0045010 biolink:PhenotypicFeature HP:0002143 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002403 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature Orphanet:101008 biolink:Disease Autosomal recessive spastic paraplegia type 28 HP:0001347 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0006944 biolink:PhenotypicFeature HP:0007021 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0010830 biolink:PhenotypicFeature Orphanet:401849 biolink:Disease Autosomal spastic paraplegia type 72 HP:0002063 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0006938 biolink:PhenotypicFeature HP:0011446 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature Orphanet:401953 biolink:Disease Episodic ataxia with slurred speech HP:0001324 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0012547 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002411 biolink:PhenotypicFeature Orphanet:211067 biolink:Disease Episodic ataxia type 5 HP:0000640 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature Orphanet:488594 biolink:Disease Autosomal recessive spastic paraplegia type 76 HP:0002061 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0007350 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0000009 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature Orphanet:447760 biolink:Disease Autosomal recessive spastic paraplegia type 9B HP:0001257 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007350 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002445 biolink:PhenotypicFeature HP:0031064 biolink:PhenotypicFeature HP:0000016 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002371 biolink:PhenotypicFeature HP:0002476 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003438 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006938 biolink:PhenotypicFeature HP:0007371 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0100515 biolink:PhenotypicFeature Orphanet:171607 biolink:Disease X-linked spastic paraplegia type 34 HP:0001347 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002362 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0012514 biolink:PhenotypicFeature Orphanet:401785 biolink:Disease Autosomal recessive spastic paraplegia type 62 HP:0002061 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0030051 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002943 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0012514 biolink:PhenotypicFeature Orphanet:208513 biolink:Disease Spinocerebellar ataxia type 29 HP:0000750 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0010862 biolink:PhenotypicFeature HP:0000570 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature HP:0012434 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0025405 biolink:PhenotypicFeature Orphanet:329284 biolink:Disease Beta-propeller protein-associated neurodegeneration HP:0000496 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000743 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002448 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0012675 biolink:PhenotypicFeature HP:0012678 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature Orphanet:324262 biolink:Disease Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency HP:0001249 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0003698 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000571 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002406 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0011347 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001271 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0007979 biolink:PhenotypicFeature Orphanet:363432 biolink:Disease Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency HP:0002070 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0000640 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:101110 biolink:Disease Spinocerebellar ataxia type 20 HP:0001260 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0007338 biolink:PhenotypicFeature HP:0012049 biolink:PhenotypicFeature HP:0030188 biolink:PhenotypicFeature HP:0000640 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007351 biolink:PhenotypicFeature HP:0010545 biolink:PhenotypicFeature HP:0030185 biolink:PhenotypicFeature HP:0030186 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature Orphanet:216866 biolink:Disease Classic pantothenate kinase-associated neurodegeneration HP:0001288 biolink:PhenotypicFeature HP:0000157 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0001146 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002454 biolink:PhenotypicFeature HP:0002533 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007325 biolink:PhenotypicFeature HP:0012675 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002179 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature Orphanet:2821 biolink:Disease Spastic paraplegia-neuropathy-poikiloderma syndrome HP:0001029 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0003400 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0011457 biolink:PhenotypicFeature Orphanet:2754 biolink:Disease Orofaciodigital syndrome type 6 HP:0000175 biolink:PhenotypicFeature HP:0000180 biolink:PhenotypicFeature HP:0000190 biolink:PhenotypicFeature HP:0000199 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002419 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004422 biolink:PhenotypicFeature HP:0007036 biolink:PhenotypicFeature HP:0007930 biolink:PhenotypicFeature HP:0008689 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0011802 biolink:PhenotypicFeature HP:0040019 biolink:PhenotypicFeature HP:0100258 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001829 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002444 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002876 biolink:PhenotypicFeature HP:0006145 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0009084 biolink:PhenotypicFeature HP:0100260 biolink:PhenotypicFeature Orphanet:306734 biolink:Disease Primary dystonia, DYT21 type HP:0001332 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0000643 biolink:PhenotypicFeature HP:0002268 biolink:PhenotypicFeature HP:0004373 biolink:PhenotypicFeature HP:0007325 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0002530 biolink:PhenotypicFeature HP:0012049 biolink:PhenotypicFeature Orphanet:494541 biolink:Disease Childhood-onset benign chorea with striatal involvement HP:0002072 biolink:PhenotypicFeature HP:0010994 biolink:PhenotypicFeature HP:0031206 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0002548 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature Orphanet:216873 biolink:Disease Atypical pantothenate kinase-associated neurodegeneration HP:0000712 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0004373 biolink:PhenotypicFeature HP:0008760 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0012048 biolink:PhenotypicFeature HP:0030216 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0012473 biolink:PhenotypicFeature Orphanet:329466 biolink:Disease Autosomal dominant focal dystonia, DYT25 type HP:0004373 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0002530 biolink:PhenotypicFeature HP:0012049 biolink:PhenotypicFeature HP:0012179 biolink:PhenotypicFeature HP:0031008 biolink:PhenotypicFeature Orphanet:306674 biolink:Disease Kufor-Rakeb syndrome HP:0000514 biolink:PhenotypicFeature HP:0000605 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007350 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000183 biolink:PhenotypicFeature HP:0000338 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002367 biolink:PhenotypicFeature HP:0002425 biolink:PhenotypicFeature HP:0008969 biolink:PhenotypicFeature HP:0010553 biolink:PhenotypicFeature HP:0011446 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0000511 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000643 biolink:PhenotypicFeature HP:0000658 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0007083 biolink:PhenotypicFeature HP:0025403 biolink:PhenotypicFeature HP:0031008 biolink:PhenotypicFeature Orphanet:97349 biolink:Disease Postencephalitic parkinsonism HP:0002322 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0002396 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0010553 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000514 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002304 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002374 biolink:PhenotypicFeature HP:0002795 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0005329 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0006919 biolink:PhenotypicFeature HP:0008765 biolink:PhenotypicFeature HP:0011446 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025331 biolink:PhenotypicFeature HP:0025456 biolink:PhenotypicFeature HP:0030188 biolink:PhenotypicFeature HP:0040082 biolink:PhenotypicFeature HP:0045007 biolink:PhenotypicFeature HP:0100595 biolink:PhenotypicFeature HP:0200149 biolink:PhenotypicFeature Orphanet:85292 biolink:Disease X-linked spinocerebellar ataxia type 4 HP:0002073 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature Orphanet:98 biolink:Disease Autosomal recessive spastic ataxia of Charlevoix-Saguenay HP:0000020 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007361 biolink:PhenotypicFeature HP:0007922 biolink:PhenotypicFeature HP:0007979 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011931 biolink:PhenotypicFeature HP:0012104 biolink:PhenotypicFeature HP:0012896 biolink:PhenotypicFeature HP:0100702 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0003438 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0010830 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature Orphanet:306686 biolink:Disease Delayed encephalopathy due to carbon monoxide poisoning HP:0000708 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0012706 biolink:PhenotypicFeature HP:0012708 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0004673 biolink:PhenotypicFeature Orphanet:306682 biolink:Disease Manganese poisoning HP:0000712 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002396 biolink:PhenotypicFeature HP:0002453 biolink:PhenotypicFeature HP:0003287 biolink:PhenotypicFeature HP:0006979 biolink:PhenotypicFeature HP:0025464 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000746 biolink:PhenotypicFeature HP:0000748 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0002304 biolink:PhenotypicFeature HP:0030018 biolink:PhenotypicFeature HP:0040306 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0030214 biolink:PhenotypicFeature HP:0031466 biolink:PhenotypicFeature Orphanet:98806 biolink:Disease Primary dystonia, DYT6 type HP:0001332 biolink:PhenotypicFeature HP:0007325 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0000643 biolink:PhenotypicFeature HP:0012049 biolink:PhenotypicFeature HP:0012179 biolink:PhenotypicFeature HP:0031008 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature Orphanet:98805 biolink:Disease Primary dystonia, DYT4 type HP:0000643 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0007325 biolink:PhenotypicFeature HP:0012049 biolink:PhenotypicFeature HP:0000182 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0003782 biolink:PhenotypicFeature HP:0009938 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0007351 biolink:PhenotypicFeature Orphanet:369939 biolink:Disease Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0000365 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000487 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001954 biolink:PhenotypicFeature HP:0002445 biolink:PhenotypicFeature HP:0006808 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0003429 biolink:PhenotypicFeature HP:0007371 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0012762 biolink:PhenotypicFeature Orphanet:100069 biolink:Disease Semantic dementia HP:0000726 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0030222 biolink:PhenotypicFeature HP:0030784 biolink:PhenotypicFeature HP:0500014 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0010522 biolink:PhenotypicFeature HP:0010523 biolink:PhenotypicFeature HP:0010526 biolink:PhenotypicFeature HP:0012671 biolink:PhenotypicFeature Orphanet:306692 biolink:Disease Cyanide-induced parkinsonism-dystonia HP:0000298 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature HP:0002362 biolink:PhenotypicFeature HP:0002425 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0004673 biolink:PhenotypicFeature HP:0007034 biolink:PhenotypicFeature HP:0007311 biolink:PhenotypicFeature HP:0007975 biolink:PhenotypicFeature HP:0011121 biolink:PhenotypicFeature HP:0012157 biolink:PhenotypicFeature Orphanet:101108 biolink:Disease Spinocerebellar ataxia type 23 HP:0001347 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0000514 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0006886 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature Orphanet:98773 biolink:Disease Spinocerebellar ataxia type 21 HP:0002066 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0007944 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002304 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature HP:0010526 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature Orphanet:420741 biolink:Disease RIDDLE syndrome HP:0002720 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0004315 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006254 biolink:PhenotypicFeature HP:0010997 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001954 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0011108 biolink:PhenotypicFeature HP:0011109 biolink:PhenotypicFeature HP:0012387 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0000524 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0001009 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002850 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0004429 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0007057 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0008940 biolink:PhenotypicFeature HP:0010677 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012768 biolink:PhenotypicFeature HP:0030746 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature Orphanet:397715 biolink:Disease Joubert syndrome with Jeune asphyxiating thoracic dystrophy HP:0000657 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002419 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0004719 biolink:PhenotypicFeature HP:0011933 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000773 biolink:PhenotypicFeature HP:0000803 biolink:PhenotypicFeature HP:0000890 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001331 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001591 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002085 biolink:PhenotypicFeature HP:0002100 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature HP:0002195 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002280 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003170 biolink:PhenotypicFeature HP:0003411 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004629 biolink:PhenotypicFeature HP:0004991 biolink:PhenotypicFeature HP:0005257 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005989 biolink:PhenotypicFeature HP:0006528 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0006668 biolink:PhenotypicFeature HP:0006711 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0007082 biolink:PhenotypicFeature HP:0008445 biolink:PhenotypicFeature HP:0008797 biolink:PhenotypicFeature HP:0009921 biolink:PhenotypicFeature HP:0010013 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature HP:0011927 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012106 biolink:PhenotypicFeature HP:0012795 biolink:PhenotypicFeature HP:0030048 biolink:PhenotypicFeature HP:0031528 biolink:PhenotypicFeature HP:0100259 biolink:PhenotypicFeature HP:0100954 biolink:PhenotypicFeature Orphanet:445062 biolink:Disease Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome HP:0000819 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002522 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0006827 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007366 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0010871 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature Orphanet:83600 biolink:Disease Encephalitis lethargica HP:0001298 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0005364 biolink:PhenotypicFeature HP:0005986 biolink:PhenotypicFeature HP:0007146 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0012547 biolink:PhenotypicFeature HP:0025439 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0002883 biolink:PhenotypicFeature HP:0009763 biolink:PhenotypicFeature HP:0025258 biolink:PhenotypicFeature Orphanet:163727 biolink:Disease Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome HP:0000666 biolink:PhenotypicFeature HP:0002268 biolink:PhenotypicFeature HP:0002356 biolink:PhenotypicFeature HP:0007104 biolink:PhenotypicFeature HP:0007332 biolink:PhenotypicFeature HP:0011295 biolink:PhenotypicFeature HP:0012012 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature Orphanet:101109 biolink:Disease Spinocerebellar ataxia type 28 HP:0001260 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000514 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0030186 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002346 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:98763 biolink:Disease Spinocerebellar ataxia type 14 HP:0002066 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0005109 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature HP:0000640 biolink:PhenotypicFeature HP:0001152 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002600 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:98762 biolink:Disease Spinocerebellar ataxia type 12 HP:0001251 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002345 biolink:PhenotypicFeature HP:0002406 biolink:PhenotypicFeature HP:0030188 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002375 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:98760 biolink:Disease Spinocerebellar ataxia type 8 HP:0000639 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000273 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0002835 biolink:PhenotypicFeature HP:0007772 biolink:PhenotypicFeature HP:0012110 biolink:PhenotypicFeature Orphanet:251282 biolink:Disease Autosomal dominant spastic ataxia type 1 HP:0000605 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0000514 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0002497 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0006961 biolink:PhenotypicFeature HP:0008969 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002921 biolink:PhenotypicFeature HP:0003700 biolink:PhenotypicFeature Orphanet:444099 biolink:Disease Autosomal dominant spastic paraplegia type 73 HP:0001347 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002314 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0000012 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0007199 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0012898 biolink:PhenotypicFeature HP:0008075 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002921 biolink:PhenotypicFeature Orphanet:171617 biolink:Disease Autosomal dominant spastic paraplegia type 38 HP:0001347 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002314 biolink:PhenotypicFeature HP:0003393 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0008075 biolink:PhenotypicFeature HP:0003392 biolink:PhenotypicFeature HP:0003426 biolink:PhenotypicFeature HP:0003427 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0009031 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0100561 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0006892 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002921 biolink:PhenotypicFeature HP:0009049 biolink:PhenotypicFeature HP:0012898 biolink:PhenotypicFeature Orphanet:320355 biolink:Disease Autosomal dominant spastic paraplegia type 41 HP:0001347 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002314 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0000012 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0007210 biolink:PhenotypicFeature HP:0030237 biolink:PhenotypicFeature HP:0100561 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002921 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0012898 biolink:PhenotypicFeature Orphanet:171863 biolink:Disease Autosomal dominant spastic paraplegia type 42 HP:0001347 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002314 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0006895 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0007210 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0100561 biolink:PhenotypicFeature HP:0008075 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002921 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0012898 biolink:PhenotypicFeature Orphanet:171612 biolink:Disease Autosomal dominant spastic paraplegia type 37 HP:0002314 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0100561 biolink:PhenotypicFeature HP:0000012 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0007350 biolink:PhenotypicFeature HP:0008075 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002921 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0012898 biolink:PhenotypicFeature Orphanet:100999 biolink:Disease Autosomal dominant spastic paraplegia type 19 HP:0002169 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0007210 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature HP:0012898 biolink:PhenotypicFeature HP:0030014 biolink:PhenotypicFeature HP:0040307 biolink:PhenotypicFeature HP:0100561 biolink:PhenotypicFeature HP:0000012 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002314 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0007350 biolink:PhenotypicFeature HP:0008075 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002921 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature Orphanet:100993 biolink:Disease Autosomal dominant spastic paraplegia type 12 HP:0001347 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002314 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0000012 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007210 biolink:PhenotypicFeature HP:0008075 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature HP:0030014 biolink:PhenotypicFeature HP:0040307 biolink:PhenotypicFeature HP:0100561 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0007350 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002921 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0012898 biolink:PhenotypicFeature Orphanet:100989 biolink:Disease Autosomal dominant spastic paraplegia type 8 HP:0001347 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002314 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0000012 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002406 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0008075 biolink:PhenotypicFeature HP:0009049 biolink:PhenotypicFeature HP:0100561 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0006986 biolink:PhenotypicFeature HP:0002921 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0012898 biolink:PhenotypicFeature Orphanet:404493 biolink:Disease Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature Orphanet:284282 biolink:Disease Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency HP:0000639 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature Orphanet:71518 biolink:Disease Benign paroxysmal torticollis of infancy HP:0000473 biolink:PhenotypicFeature HP:0002457 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature Orphanet:37612 biolink:Disease Episodic ataxia type 1 HP:0002172 biolink:PhenotypicFeature HP:0002370 biolink:PhenotypicFeature HP:0002411 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001188 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002486 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0005461 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0030051 biolink:PhenotypicFeature Orphanet:209967 biolink:Disease Episodic ataxia type 6 HP:0000613 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002183 biolink:PhenotypicFeature HP:0000640 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature Orphanet:320401 biolink:Disease Autosomal recessive spastic paraplegia type 44 HP:0000486 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0003429 biolink:PhenotypicFeature HP:0006958 biolink:PhenotypicFeature HP:0007377 biolink:PhenotypicFeature HP:0012896 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature Orphanet:412217 biolink:Disease Dystonia-aphonia syndrome HP:0000183 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0007325 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002425 biolink:PhenotypicFeature HP:0007327 biolink:PhenotypicFeature HP:0007885 biolink:PhenotypicFeature HP:0008777 biolink:PhenotypicFeature HP:0012048 biolink:PhenotypicFeature HP:0012087 biolink:PhenotypicFeature HP:0012088 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:319199 biolink:Disease Autosomal recessive spastic paraplegia type 53 HP:0010831 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0007350 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0200049 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000372 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002539 biolink:PhenotypicFeature Orphanet:320391 biolink:Disease Autosomal recessive spastic paraplegia type 46 HP:0000518 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0007371 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002346 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0006938 biolink:PhenotypicFeature HP:0006986 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0008003 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0012207 biolink:PhenotypicFeature HP:0012864 biolink:PhenotypicFeature HP:0012865 biolink:PhenotypicFeature HP:0100261 biolink:PhenotypicFeature Orphanet:101005 biolink:Disease Autosomal recessive spastic paraplegia type 25 HP:0002385 biolink:PhenotypicFeature HP:0008441 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0012514 biolink:PhenotypicFeature HP:0030833 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0001087 biolink:PhenotypicFeature HP:0003134 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0008480 biolink:PhenotypicFeature HP:0012513 biolink:PhenotypicFeature HP:0100712 biolink:PhenotypicFeature Orphanet:139480 biolink:Disease Autosomal recessive spastic paraplegia type 39 HP:0001258 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0006827 biolink:PhenotypicFeature HP:0007002 biolink:PhenotypicFeature HP:0009055 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature Orphanet:79137 biolink:Disease Generalized epilepsy-paroxysmal dyskinesia syndrome HP:0002197 biolink:PhenotypicFeature HP:0007166 biolink:PhenotypicFeature HP:0010849 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature Orphanet:101009 biolink:Disease Autosomal dominant spastic paraplegia type 29 HP:0002395 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002036 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0007350 biolink:PhenotypicFeature HP:0010936 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002034 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature Orphanet:306731 biolink:Disease Sydenham chorea HP:0000182 biolink:PhenotypicFeature HP:0000273 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000719 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0100248 biolink:PhenotypicFeature HP:0003095 biolink:PhenotypicFeature HP:0005366 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0100584 biolink:PhenotypicFeature Orphanet:199351 biolink:Disease Adult-onset dystonia-parkinsonism HP:0000338 biolink:PhenotypicFeature HP:0000571 biolink:PhenotypicFeature HP:0000658 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002145 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002185 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002548 biolink:PhenotypicFeature HP:0004373 biolink:PhenotypicFeature HP:0006892 biolink:PhenotypicFeature HP:0007058 biolink:PhenotypicFeature HP:0007153 biolink:PhenotypicFeature HP:0010522 biolink:PhenotypicFeature HP:0025262 biolink:PhenotypicFeature HP:0040081 biolink:PhenotypicFeature HP:0000605 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000746 biolink:PhenotypicFeature HP:0000751 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0011999 biolink:PhenotypicFeature HP:0012675 biolink:PhenotypicFeature Orphanet:320365 biolink:Disease Autosomal dominant spastic paraplegia type 36 HP:0001347 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0000012 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0006858 biolink:PhenotypicFeature HP:0006886 biolink:PhenotypicFeature HP:0006937 biolink:PhenotypicFeature HP:0007220 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature HP:0011402 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0012747 biolink:PhenotypicFeature Orphanet:66624 biolink:Disease PANDAS HP:0100033 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000751 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008770 biolink:PhenotypicFeature HP:0010865 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0100852 biolink:PhenotypicFeature HP:0000756 biolink:PhenotypicFeature HP:0000805 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002183 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0005366 biolink:PhenotypicFeature HP:0025253 biolink:PhenotypicFeature HP:0031468 biolink:PhenotypicFeature HP:0040183 biolink:PhenotypicFeature HP:0100754 biolink:PhenotypicFeature Orphanet:276198 biolink:Disease Spinocerebellar ataxia type 36 HP:0000365 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0000514 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0001308 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007001 biolink:PhenotypicFeature HP:0012473 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002346 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0045084 biolink:PhenotypicFeature Orphanet:497764 biolink:Disease Spinocerebellar ataxia type 43 HP:0003477 biolink:PhenotypicFeature HP:0008959 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0000571 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002396 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003387 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature Orphanet:100994 biolink:Disease Autosomal dominant spastic paraplegia type 13 HP:0001258 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0007350 biolink:PhenotypicFeature HP:0000012 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature Orphanet:99013 biolink:Disease Spastic paraplegia type 7 HP:0002064 biolink:PhenotypicFeature HP:0000012 biolink:PhenotypicFeature HP:0000605 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0003200 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0006895 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007164 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0008322 biolink:PhenotypicFeature HP:0011446 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0012514 biolink:PhenotypicFeature Orphanet:157835 biolink:Disease Paroxysmal hemicrania HP:0002076 biolink:PhenotypicFeature HP:0002331 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0002183 biolink:PhenotypicFeature HP:0009926 biolink:PhenotypicFeature HP:0012384 biolink:PhenotypicFeature HP:0030953 biolink:PhenotypicFeature HP:0031284 biolink:PhenotypicFeature HP:0031417 biolink:PhenotypicFeature HP:0000616 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0011161 biolink:PhenotypicFeature HP:0012452 biolink:PhenotypicFeature HP:0025258 biolink:PhenotypicFeature HP:0030833 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0012199 biolink:PhenotypicFeature HP:0100661 biolink:PhenotypicFeature Orphanet:101011 biolink:Disease Autosomal dominant spastic paraplegia type 31 HP:0001260 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002483 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0007350 biolink:PhenotypicFeature HP:0008956 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature HP:0030237 biolink:PhenotypicFeature Orphanet:397946 biolink:Disease Autosomal spastic paraplegia type 58 HP:0000668 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0002497 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011096 biolink:PhenotypicFeature HP:0025357 biolink:PhenotypicFeature HP:0030187 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0030051 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature Orphanet:100988 biolink:Disease Autosomal dominant spastic paraplegia type 6 HP:0001258 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0008800 biolink:PhenotypicFeature HP:0010505 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature Orphanet:98808 biolink:Disease Autosomal dominant dopa-responsive dystonia HP:0000365 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0003785 biolink:PhenotypicFeature HP:0004373 biolink:PhenotypicFeature HP:0008297 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0045007 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001370 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002601 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0005876 biolink:PhenotypicFeature HP:0007325 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:171629 biolink:Disease Autosomal recessive spastic paraplegia type 35 HP:0001258 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0006895 biolink:PhenotypicFeature HP:0007325 biolink:PhenotypicFeature HP:0007366 biolink:PhenotypicFeature HP:0007371 biolink:PhenotypicFeature HP:0011096 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000467 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0005656 biolink:PhenotypicFeature HP:0006879 biolink:PhenotypicFeature HP:0010677 biolink:PhenotypicFeature HP:0012677 biolink:PhenotypicFeature HP:0100515 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature Orphanet:100997 biolink:Disease X-linked spastic paraplegia type 16 HP:0000009 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001844 biolink:PhenotypicFeature HP:0002427 biolink:PhenotypicFeature HP:0002445 biolink:PhenotypicFeature HP:0012719 biolink:PhenotypicFeature Orphanet:401780 biolink:Disease Autosomal recessive spastic paraplegia type 61 HP:0001257 biolink:PhenotypicFeature HP:0001271 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0005109 biolink:PhenotypicFeature HP:0007083 biolink:PhenotypicFeature HP:0007178 biolink:PhenotypicFeature HP:0012407 biolink:PhenotypicFeature Orphanet:320396 biolink:Disease Autosomal recessive spastic paraplegia type 45 HP:0001249 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0005830 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006466 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0012043 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature Orphanet:320411 biolink:Disease Autosomal recessive spastic paraplegia type 56 HP:0002395 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002453 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:101010 biolink:Disease Autosomal spastic paraplegia type 30 HP:0002061 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0008969 biolink:PhenotypicFeature HP:0000570 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0012407 biolink:PhenotypicFeature HP:0100275 biolink:PhenotypicFeature Orphanet:306511 biolink:Disease Autosomal recessive spastic paraplegia type 48 HP:0002079 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature Orphanet:100986 biolink:Disease Autosomal recessive spastic paraplegia type 5A HP:0001258 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0007210 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0006827 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001271 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0006986 biolink:PhenotypicFeature HP:0009129 biolink:PhenotypicFeature Orphanet:100995 biolink:Disease Autosomal recessive spastic paraplegia type 14 HP:0001256 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0006895 biolink:PhenotypicFeature HP:0007002 biolink:PhenotypicFeature Orphanet:641 biolink:Disease Multifocal motor neuropathy HP:0009063 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003323 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003690 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0004345 biolink:PhenotypicFeature HP:0006251 biolink:PhenotypicFeature HP:0009077 biolink:PhenotypicFeature HP:0012078 biolink:PhenotypicFeature Orphanet:266 biolink:Disease Autosomal dominant limb-girdle muscular dystrophy type 1A HP:0003547 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0003749 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0003698 biolink:PhenotypicFeature HP:0003736 biolink:PhenotypicFeature HP:0005085 biolink:PhenotypicFeature HP:0006376 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0012515 biolink:PhenotypicFeature HP:0012548 biolink:PhenotypicFeature HP:0100297 biolink:PhenotypicFeature HP:0000297 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002792 biolink:PhenotypicFeature HP:0002795 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0012496 biolink:PhenotypicFeature Orphanet:79136 biolink:Disease Episodic ataxia type 4 HP:0001251 biolink:PhenotypicFeature HP:0000617 biolink:PhenotypicFeature HP:0000640 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002311 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002457 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature Orphanet:83629 biolink:Disease Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome HP:0002352 biolink:PhenotypicFeature HP:0005871 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002062 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0003020 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0012747 biolink:PhenotypicFeature HP:0030866 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0100707 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:85447 biolink:Disease ATTRV30M amyloidosis HP:0000112 biolink:PhenotypicFeature HP:0001271 biolink:PhenotypicFeature HP:0500014 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001678 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012185 biolink:PhenotypicFeature HP:0012211 biolink:PhenotypicFeature HP:0100832 biolink:PhenotypicFeature Orphanet:401810 biolink:Disease Autosomal recessive spastic paraplegia type 64 HP:0000252 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature Orphanet:401805 biolink:Disease Autosomal recessive spastic paraplegia type 63 HP:0001257 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0012407 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature Orphanet:139485 biolink:Disease Autosomal recessive ataxia due to ubiquinone deficiency HP:0001272 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0004696 biolink:PhenotypicFeature HP:0011398 biolink:PhenotypicFeature HP:0012752 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature Orphanet:314647 biolink:Disease Non-progressive cerebellar ataxia with intellectual disability HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002470 biolink:PhenotypicFeature HP:0002536 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0025191 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0002003 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0011067 biolink:PhenotypicFeature HP:0025517 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0400005 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0002403 biolink:PhenotypicFeature Orphanet:276193 biolink:Disease Spinocerebellar ataxia type 35 HP:0002073 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0000467 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0000641 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0007024 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature Orphanet:101112 biolink:Disease Spinocerebellar ataxia type 26 HP:0001151 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000641 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007034 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature Orphanet:284289 biolink:Disease Adult-onset autosomal recessive cerebellar ataxia HP:0002073 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000608 biolink:PhenotypicFeature HP:0000641 biolink:PhenotypicFeature HP:0001152 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0008969 biolink:PhenotypicFeature HP:0010545 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0000503 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature Orphanet:284324 biolink:Disease Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia HP:0002073 biolink:PhenotypicFeature HP:0000641 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0001152 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002168 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0003445 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature Orphanet:284332 biolink:Disease Infantile-onset autosomal recessive nonprogressive cerebellar ataxia HP:0002073 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature Orphanet:352403 biolink:Disease Spectrin-associated autosomal recessive cerebellar ataxia HP:0002073 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000641 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0008003 biolink:PhenotypicFeature Orphanet:3177 biolink:Disease Spinocerebellar degeneration-corneal dystrophy syndrome HP:0000505 biolink:PhenotypicFeature HP:0001131 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0002503 biolink:PhenotypicFeature HP:0007006 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature Orphanet:2589 biolink:Disease Myoclonus-cerebellar ataxia-deafness syndrome HP:0001260 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002522 biolink:PhenotypicFeature HP:0003445 biolink:PhenotypicFeature HP:0003700 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature Orphanet:431361 biolink:Disease Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0000252 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001947 biolink:PhenotypicFeature HP:0001992 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002161 biolink:PhenotypicFeature HP:0002415 biolink:PhenotypicFeature HP:0002448 biolink:PhenotypicFeature HP:0002470 biolink:PhenotypicFeature HP:0002478 biolink:PhenotypicFeature HP:0003206 biolink:PhenotypicFeature HP:0003234 biolink:PhenotypicFeature HP:0004897 biolink:PhenotypicFeature HP:0010536 biolink:PhenotypicFeature HP:0010967 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0012547 biolink:PhenotypicFeature HP:0012751 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature Orphanet:238722 biolink:Disease Familial congenital mirror movements HP:0001335 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002492 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0025101 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0002949 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature Orphanet:453521 biolink:Disease Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency HP:0000657 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002470 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0009617 biolink:PhenotypicFeature HP:0031435 biolink:PhenotypicFeature HP:0040196 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature Orphanet:309271 biolink:Disease Metachromatic leukodystrophy, adult form HP:0000648 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000746 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002415 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0004343 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0030081 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0001082 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002371 biolink:PhenotypicFeature HP:0002478 biolink:PhenotypicFeature HP:0002483 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0003444 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0004355 biolink:PhenotypicFeature HP:0007133 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0007272 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0004926 biolink:PhenotypicFeature HP:0025013 biolink:PhenotypicFeature HP:0031358 biolink:PhenotypicFeature HP:0100575 biolink:PhenotypicFeature Orphanet:309263 biolink:Disease Metachromatic leukodystrophy, juvenile form HP:0002359 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002415 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0004343 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0030081 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000746 biolink:PhenotypicFeature HP:0001082 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002371 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0003444 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0004355 biolink:PhenotypicFeature HP:0007133 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0007272 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0025013 biolink:PhenotypicFeature HP:0031358 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature Orphanet:309256 biolink:Disease Metachromatic leukodystrophy, late infantile form HP:0007663 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0025013 biolink:PhenotypicFeature HP:0031358 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002415 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003444 biolink:PhenotypicFeature HP:0007133 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0030081 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000746 biolink:PhenotypicFeature HP:0001082 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002371 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0004355 biolink:PhenotypicFeature Orphanet:289560 biolink:Disease Mitochondrial membrane protein-associated neurodegeneration HP:0000708 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002453 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0007002 biolink:PhenotypicFeature HP:0045007 biolink:PhenotypicFeature HP:0000570 biolink:PhenotypicFeature HP:0002362 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature Orphanet:98810 biolink:Disease Paroxysmal non-kinesigenic dyskinesia HP:0001332 biolink:PhenotypicFeature HP:0007166 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0000211 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0025401 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature Orphanet:98809 biolink:Disease Paroxysmal kinesigenic dyskinesia HP:0001332 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002305 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0011157 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002356 biolink:PhenotypicFeature Orphanet:248111 biolink:Disease Juvenile Huntington disease HP:0000708 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0012547 biolink:PhenotypicFeature HP:0030190 biolink:PhenotypicFeature HP:0200147 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature Orphanet:247234 biolink:Disease Sporadic adult-onset ataxia of unknown etiology HP:0000496 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000608 biolink:PhenotypicFeature HP:0000640 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0007670 biolink:PhenotypicFeature HP:0007772 biolink:PhenotypicFeature HP:0008278 biolink:PhenotypicFeature HP:0000338 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001291 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002304 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature HP:0002362 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature Orphanet:64753 biolink:Disease Spinocerebellar ataxia with axonal neuropathy type 2 HP:0001251 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0000640 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0001152 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0006254 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002346 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature Orphanet:100985 biolink:Disease Autosomal dominant spastic paraplegia type 4 HP:0000012 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0006938 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0008969 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0007350 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature Orphanet:100984 biolink:Disease Autosomal dominant spastic paraplegia type 3 HP:0002061 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0000012 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0006895 biolink:PhenotypicFeature HP:0100963 biolink:PhenotypicFeature Orphanet:97 biolink:Disease Familial paroxysmal ataxia HP:0000639 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature Orphanet:1177 biolink:Disease Early-onset cerebellar ataxia with retained tendon reflexes HP:0002073 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0006895 biolink:PhenotypicFeature HP:0007083 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007350 biolink:PhenotypicFeature HP:0008003 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003115 biolink:PhenotypicFeature HP:0003700 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0010794 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0200101 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0005775 biolink:PhenotypicFeature Orphanet:98758 biolink:Disease Spinocerebellar ataxia type 6 HP:0000639 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002311 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0007979 biolink:PhenotypicFeature HP:0030511 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0010544 biolink:PhenotypicFeature HP:0030842 biolink:PhenotypicFeature HP:0000643 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature Orphanet:94147 biolink:Disease Spinocerebellar ataxia type 7 HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0000548 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001098 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002310 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012452 biolink:PhenotypicFeature HP:0000608 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0012047 biolink:PhenotypicFeature Orphanet:98933 biolink:Disease Multiple system atrophy, parkinsonian type HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002310 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0002494 biolink:PhenotypicFeature HP:0002530 biolink:PhenotypicFeature HP:0004926 biolink:PhenotypicFeature HP:0005341 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0008652 biolink:PhenotypicFeature HP:0010307 biolink:PhenotypicFeature HP:0010536 biolink:PhenotypicFeature HP:0012658 biolink:PhenotypicFeature HP:0012670 biolink:PhenotypicFeature HP:0030015 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0000640 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0100595 biolink:PhenotypicFeature Orphanet:227510 biolink:Disease Multiple system atrophy, cerebellar type HP:0000640 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002068 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002310 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0002494 biolink:PhenotypicFeature HP:0002530 biolink:PhenotypicFeature HP:0004926 biolink:PhenotypicFeature HP:0005341 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0008652 biolink:PhenotypicFeature HP:0010307 biolink:PhenotypicFeature HP:0010536 biolink:PhenotypicFeature HP:0010545 biolink:PhenotypicFeature HP:0012658 biolink:PhenotypicFeature HP:0012670 biolink:PhenotypicFeature HP:0030015 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature HP:0100595 biolink:PhenotypicFeature Orphanet:102 biolink:Disease Multiple system atrophy HP:0000640 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002310 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0002494 biolink:PhenotypicFeature HP:0002530 biolink:PhenotypicFeature HP:0004926 biolink:PhenotypicFeature HP:0005341 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0008652 biolink:PhenotypicFeature HP:0010307 biolink:PhenotypicFeature HP:0010536 biolink:PhenotypicFeature HP:0012658 biolink:PhenotypicFeature HP:0012670 biolink:PhenotypicFeature HP:0030015 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0100595 biolink:PhenotypicFeature Orphanet:53351 biolink:Disease X-linked dystonia-parkinsonism HP:0000643 biolink:PhenotypicFeature HP:0001304 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature HP:0002362 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0002548 biolink:PhenotypicFeature HP:0004373 biolink:PhenotypicFeature HP:0007158 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0006511 biolink:PhenotypicFeature HP:0010808 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0031162 biolink:PhenotypicFeature Orphanet:466688 biolink:Disease Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0000179 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002470 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature Orphanet:466794 biolink:Disease Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome HP:0000641 biolink:PhenotypicFeature HP:0001152 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0006554 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0009055 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0025268 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature Orphanet:101150 biolink:Disease Autosomal recessive dopa-responsive dystonia HP:0000508 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002375 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0003781 biolink:PhenotypicFeature HP:0003785 biolink:PhenotypicFeature HP:0004373 biolink:PhenotypicFeature HP:0010553 biolink:PhenotypicFeature HP:0011398 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0030166 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0007325 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002448 biolink:PhenotypicFeature Orphanet:438114 biolink:Disease RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0000817 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0006808 biolink:PhenotypicFeature HP:0006895 biolink:PhenotypicFeature HP:0007153 biolink:PhenotypicFeature HP:0007281 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002506 biolink:PhenotypicFeature HP:0007024 biolink:PhenotypicFeature HP:0007179 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature Orphanet:98755 biolink:Disease Spinocerebellar ataxia type 1 HP:0002073 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000514 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002483 biolink:PhenotypicFeature HP:0007001 biolink:PhenotypicFeature HP:0007366 biolink:PhenotypicFeature HP:0007377 biolink:PhenotypicFeature HP:0007928 biolink:PhenotypicFeature HP:0025331 biolink:PhenotypicFeature HP:0025401 biolink:PhenotypicFeature HP:0030216 biolink:PhenotypicFeature HP:0040129 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0007338 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature HP:0410011 biolink:PhenotypicFeature Orphanet:98756 biolink:Disease Spinocerebellar ataxia type 2 HP:0002073 biolink:PhenotypicFeature HP:0045007 biolink:PhenotypicFeature HP:0000514 biolink:PhenotypicFeature HP:0000623 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0003133 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0006955 biolink:PhenotypicFeature HP:0008311 biolink:PhenotypicFeature HP:0012082 biolink:PhenotypicFeature HP:0025461 biolink:PhenotypicFeature HP:0030186 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002536 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0012762 biolink:PhenotypicFeature Orphanet:466934 biolink:Disease VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0000252 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0011398 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002188 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0002459 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0007204 biolink:PhenotypicFeature HP:0007301 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature Orphanet:101 biolink:Disease Dentatorubral pallidoluysian atrophy HP:0002075 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001138 biolink:PhenotypicFeature HP:0001152 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0002345 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature HP:0010867 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000643 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0012048 biolink:PhenotypicFeature Orphanet:529962 biolink:Disease 17q24.2 microdeletion syndrome HP:0000750 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000475 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000692 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003028 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008607 biolink:PhenotypicFeature HP:0008935 biolink:PhenotypicFeature HP:0009824 biolink:PhenotypicFeature HP:0010794 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000362 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000720 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0011648 biolink:PhenotypicFeature HP:0200053 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0012683 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature Orphanet:2756 biolink:Disease Orofaciodigital syndrome type 10 HP:0000185 biolink:PhenotypicFeature HP:0000191 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0001440 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002990 biolink:PhenotypicFeature HP:0004987 biolink:PhenotypicFeature HP:0005011 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005736 biolink:PhenotypicFeature HP:0005873 biolink:PhenotypicFeature HP:0006114 biolink:PhenotypicFeature HP:0006434 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0008386 biolink:PhenotypicFeature HP:0009280 biolink:PhenotypicFeature HP:0009486 biolink:PhenotypicFeature HP:0009942 biolink:PhenotypicFeature HP:0012165 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0012428 biolink:PhenotypicFeature HP:0100258 biolink:PhenotypicFeature Orphanet:521426 biolink:Disease PLAA-associated neurodevelopmental disorder HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001187 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001283 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001830 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002267 biolink:PhenotypicFeature HP:0002352 biolink:PhenotypicFeature HP:0002478 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0002536 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005781 biolink:PhenotypicFeature HP:0007514 biolink:PhenotypicFeature HP:0008278 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0011398 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012098 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012762 biolink:PhenotypicFeature HP:0031162 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002483 biolink:PhenotypicFeature Orphanet:2015 biolink:Disease Cleft palate-short stature-vertebral anomalies syndrome HP:0000175 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:2519 biolink:Disease Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0000054 biolink:PhenotypicFeature HP:0000851 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0006934 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000766 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000773 biolink:PhenotypicFeature HP:0000885 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0005989 biolink:PhenotypicFeature Orphanet:3473 biolink:Disease Zimmermann-Laband syndrome HP:0000169 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0001817 biolink:PhenotypicFeature HP:0002265 biolink:PhenotypicFeature HP:0004554 biolink:PhenotypicFeature HP:0009102 biolink:PhenotypicFeature HP:0009894 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000811 biolink:PhenotypicFeature HP:0000977 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0002219 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001869 biolink:PhenotypicFeature HP:0006191 biolink:PhenotypicFeature HP:0006391 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature Orphanet:3433 biolink:Disease Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0000252 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002362 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0003413 biolink:PhenotypicFeature HP:0005620 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0012811 biolink:PhenotypicFeature Orphanet:3304 biolink:Disease Fallot complex-intellectual disability-growth delay syndrome HP:0000411 biolink:PhenotypicFeature HP:0001525 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001719 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0011335 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002179 biolink:PhenotypicFeature HP:0002623 biolink:PhenotypicFeature HP:0005278 biolink:PhenotypicFeature HP:0005301 biolink:PhenotypicFeature HP:0007687 biolink:PhenotypicFeature HP:0100759 biolink:PhenotypicFeature HP:0100760 biolink:PhenotypicFeature Orphanet:521445 biolink:Disease Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000077 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000321 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000557 biolink:PhenotypicFeature HP:0000558 biolink:PhenotypicFeature HP:0000696 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000851 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001848 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0005990 biolink:PhenotypicFeature HP:0008007 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0010490 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0020038 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature Orphanet:1401 biolink:Disease CHAND syndrome HP:0002164 biolink:PhenotypicFeature HP:0002212 biolink:PhenotypicFeature HP:0009755 biolink:PhenotypicFeature HP:0000072 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000190 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002710 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006349 biolink:PhenotypicFeature HP:0010297 biolink:PhenotypicFeature HP:0030011 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature HP:0200160 biolink:PhenotypicFeature HP:0004704 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature Orphanet:225154 biolink:Disease Familial infantile bilateral striatal necrosis HP:0000648 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0006999 biolink:PhenotypicFeature HP:0007374 biolink:PhenotypicFeature HP:0007811 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002396 biolink:PhenotypicFeature HP:0002446 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0006799 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0007688 biolink:PhenotypicFeature HP:0012697 biolink:PhenotypicFeature Orphanet:225147 biolink:Disease Sporadic infantile bilateral striatal necrosis HP:0000273 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002533 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0030215 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0000338 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0005366 biolink:PhenotypicFeature HP:0007158 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011151 biolink:PhenotypicFeature HP:0025439 biolink:PhenotypicFeature HP:0030187 biolink:PhenotypicFeature HP:0040168 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature Orphanet:3240 biolink:Disease Central nervous system calcification-deafness-tubular acidosis-anemia syndrome HP:0001047 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002171 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002506 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0002599 biolink:PhenotypicFeature HP:0003281 biolink:PhenotypicFeature HP:0004463 biolink:PhenotypicFeature HP:0004840 biolink:PhenotypicFeature HP:0007346 biolink:PhenotypicFeature HP:0008568 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0011002 biolink:PhenotypicFeature Orphanet:2729 biolink:Disease Okamoto syndrome HP:0000463 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0001090 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001711 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002025 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002144 biolink:PhenotypicFeature HP:0002219 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005325 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0005989 biolink:PhenotypicFeature HP:0010445 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012583 biolink:PhenotypicFeature HP:0100876 biolink:PhenotypicFeature HP:0000074 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0008850 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002711 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000136 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature Orphanet:1383 biolink:Disease Cataract-deafness-hypogonadism syndrome HP:0000135 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004554 biolink:PhenotypicFeature Orphanet:1272 biolink:Disease Aymé-Gripp syndrome HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000586 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0007099 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011333 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000402 biolink:PhenotypicFeature HP:0000485 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002680 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0003187 biolink:PhenotypicFeature HP:0005815 biolink:PhenotypicFeature HP:0012770 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature Orphanet:56305 biolink:Disease Atelosteogenesis type III HP:0001248 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003063 biolink:PhenotypicFeature HP:0003417 biolink:PhenotypicFeature HP:0004976 biolink:PhenotypicFeature HP:0006408 biolink:PhenotypicFeature HP:0008417 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0001188 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002990 biolink:PhenotypicFeature HP:0003049 biolink:PhenotypicFeature HP:0003862 biolink:PhenotypicFeature HP:0003902 biolink:PhenotypicFeature HP:0003974 biolink:PhenotypicFeature HP:0005257 biolink:PhenotypicFeature HP:0005619 biolink:PhenotypicFeature HP:0005736 biolink:PhenotypicFeature HP:0005905 biolink:PhenotypicFeature HP:0006384 biolink:PhenotypicFeature HP:0008755 biolink:PhenotypicFeature Orphanet:73223 biolink:Disease Global developmental delay-osteopenia-ectodermal defect syndrome HP:0000708 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0003127 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007387 biolink:PhenotypicFeature HP:0007483 biolink:PhenotypicFeature HP:0010719 biolink:PhenotypicFeature HP:0011125 biolink:PhenotypicFeature HP:0011368 biolink:PhenotypicFeature HP:0025080 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0001593 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0011065 biolink:PhenotypicFeature HP:0011074 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0012365 biolink:PhenotypicFeature HP:0012520 biolink:PhenotypicFeature HP:0040022 biolink:PhenotypicFeature HP:0040025 biolink:PhenotypicFeature Orphanet:268940 biolink:Disease Bilateral polymicrogyria HP:0001250 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002200 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007362 biolink:PhenotypicFeature HP:0009878 biolink:PhenotypicFeature HP:0010522 biolink:PhenotypicFeature HP:0011099 biolink:PhenotypicFeature HP:0012429 biolink:PhenotypicFeature HP:0012650 biolink:PhenotypicFeature HP:0040168 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000183 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001349 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0006818 biolink:PhenotypicFeature HP:0007024 biolink:PhenotypicFeature HP:0007095 biolink:PhenotypicFeature HP:0011787 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0410011 biolink:PhenotypicFeature HP:3000047 biolink:PhenotypicFeature Orphanet:56304 biolink:Disease Atelosteogenesis type II HP:0009826 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000773 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001193 biolink:PhenotypicFeature HP:0001230 biolink:PhenotypicFeature HP:0001234 biolink:PhenotypicFeature HP:0001591 biolink:PhenotypicFeature HP:0001602 biolink:PhenotypicFeature HP:0001776 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002786 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003097 biolink:PhenotypicFeature HP:0003423 biolink:PhenotypicFeature HP:0004991 biolink:PhenotypicFeature HP:0005257 biolink:PhenotypicFeature HP:0006009 biolink:PhenotypicFeature HP:0006375 biolink:PhenotypicFeature HP:0006385 biolink:PhenotypicFeature HP:0008110 biolink:PhenotypicFeature HP:0008752 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0009803 biolink:PhenotypicFeature HP:0009824 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0012427 biolink:PhenotypicFeature HP:0100694 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001538 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002947 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0004664 biolink:PhenotypicFeature HP:0008434 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012810 biolink:PhenotypicFeature HP:0100337 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature Orphanet:557 biolink:Disease Non-syndromic anorectal malformation HP:0012732 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000143 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0025407 biolink:PhenotypicFeature HP:0030711 biolink:PhenotypicFeature HP:0100590 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0002144 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0009790 biolink:PhenotypicFeature HP:0012621 biolink:PhenotypicFeature Orphanet:3352 biolink:Disease Tricho-dento-osseous syndrome HP:0000264 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000679 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001808 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0006285 biolink:PhenotypicFeature HP:0009722 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0011362 biolink:PhenotypicFeature HP:0030312 biolink:PhenotypicFeature HP:0030758 biolink:PhenotypicFeature HP:0006485 biolink:PhenotypicFeature HP:0040019 biolink:PhenotypicFeature Orphanet:268943 biolink:Disease Unilateral polymicrogyria HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0002539 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0007024 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001312 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002533 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0006548 biolink:PhenotypicFeature HP:0008610 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012389 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0012650 biolink:PhenotypicFeature HP:0040168 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001335 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature Orphanet:91416 biolink:Disease Isolated congenital alacrima HP:0000522 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0007732 biolink:PhenotypicFeature HP:0009743 biolink:PhenotypicFeature HP:0200020 biolink:PhenotypicFeature HP:0007820 biolink:PhenotypicFeature HP:0002571 biolink:PhenotypicFeature Orphanet:527497 biolink:Disease NKX6-2-related autosomal recessive hypomyelinating leukodystrophy HP:0000571 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002191 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002415 biolink:PhenotypicFeature HP:0002599 biolink:PhenotypicFeature HP:0003429 biolink:PhenotypicFeature HP:0007704 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0012534 biolink:PhenotypicFeature Orphanet:79350 biolink:Disease 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0001263 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012279 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0100633 biolink:PhenotypicFeature Orphanet:521411 biolink:Disease Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect HP:0000508 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001349 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0003444 biolink:PhenotypicFeature HP:0007178 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0009055 biolink:PhenotypicFeature HP:0010836 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0040081 biolink:PhenotypicFeature Orphanet:88619 biolink:Disease Familial acute necrotizing encephalopathy HP:0001259 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0006846 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002171 biolink:PhenotypicFeature HP:0002181 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0010663 biolink:PhenotypicFeature HP:0011887 biolink:PhenotypicFeature HP:0012747 biolink:PhenotypicFeature HP:0025404 biolink:PhenotypicFeature HP:0031982 biolink:PhenotypicFeature Orphanet:529808 biolink:Disease Chronic bilirubin encephalopathy HP:0002480 biolink:PhenotypicFeature HP:0003265 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0006958 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000502 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001343 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002871 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012696 biolink:PhenotypicFeature HP:0032106 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0003228 biolink:PhenotypicFeature HP:0025518 biolink:PhenotypicFeature HP:0040187 biolink:PhenotypicFeature Orphanet:77299 biolink:Disease Microphthalmia-brain atrophy syndrome HP:0000618 biolink:PhenotypicFeature HP:0007633 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002506 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0007162 biolink:PhenotypicFeature HP:0007366 biolink:PhenotypicFeature HP:0007371 biolink:PhenotypicFeature HP:0030215 biolink:PhenotypicFeature HP:0031165 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature HP:0007361 biolink:PhenotypicFeature HP:0011174 biolink:PhenotypicFeature HP:0031358 biolink:PhenotypicFeature HP:0100703 biolink:PhenotypicFeature Orphanet:73230 biolink:Disease Ossification anomalies-psychomotor developmental delay syndrome HP:0000586 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0000883 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002100 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0003100 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0003244 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0009237 biolink:PhenotypicFeature HP:0009875 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0031207 biolink:PhenotypicFeature HP:0100759 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000940 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003016 biolink:PhenotypicFeature HP:0006462 biolink:PhenotypicFeature HP:0011849 biolink:PhenotypicFeature HP:0100774 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature Orphanet:529799 biolink:Disease Acute bilirubin encephalopathy HP:0002480 biolink:PhenotypicFeature HP:0003265 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0006958 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000502 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001343 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002871 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012696 biolink:PhenotypicFeature HP:0032106 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0003228 biolink:PhenotypicFeature HP:0025331 biolink:PhenotypicFeature HP:0040187 biolink:PhenotypicFeature Orphanet:501 biolink:Disease Lafora disease HP:0100318 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001312 biolink:PhenotypicFeature HP:0002100 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002367 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0025357 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0007270 biolink:PhenotypicFeature HP:0007334 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0007537 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0025121 biolink:PhenotypicFeature HP:0031358 biolink:PhenotypicFeature Orphanet:90103 biolink:Disease Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome HP:0000762 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0003387 biolink:PhenotypicFeature HP:0007078 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007210 biolink:PhenotypicFeature HP:0008625 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002522 biolink:PhenotypicFeature HP:0003134 biolink:PhenotypicFeature HP:0003409 biolink:PhenotypicFeature HP:0003438 biolink:PhenotypicFeature HP:0006938 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0008954 biolink:PhenotypicFeature HP:0008959 biolink:PhenotypicFeature HP:0008962 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0009031 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0009129 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0012046 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0040078 biolink:PhenotypicFeature Orphanet:2339 biolink:Disease Keratosis follicularis-dwarfism-cerebral atrophy syndrome HP:0000252 biolink:PhenotypicFeature HP:0000561 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002223 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0007439 biolink:PhenotypicFeature Orphanet:204 biolink:Disease Sporadic Creutzfeldt-Jakob disease HP:0000726 biolink:PhenotypicFeature HP:0002529 biolink:PhenotypicFeature HP:0006790 biolink:PhenotypicFeature HP:0012672 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002100 biolink:PhenotypicFeature HP:0002171 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002367 biolink:PhenotypicFeature HP:0002446 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature Orphanet:83617 biolink:Disease Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0010976 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000452 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0001036 biolink:PhenotypicFeature HP:0001051 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002850 biolink:PhenotypicFeature HP:0004440 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0025092 biolink:PhenotypicFeature HP:0031190 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000244 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000883 biolink:PhenotypicFeature HP:0000890 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002506 biolink:PhenotypicFeature HP:0002594 biolink:PhenotypicFeature HP:0002949 biolink:PhenotypicFeature HP:0004425 biolink:PhenotypicFeature HP:0004616 biolink:PhenotypicFeature HP:0005365 biolink:PhenotypicFeature HP:0006560 biolink:PhenotypicFeature HP:0009697 biolink:PhenotypicFeature HP:0011682 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature Orphanet:79351 biolink:Disease 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0012277 biolink:PhenotypicFeature HP:0012279 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006808 biolink:PhenotypicFeature HP:0007281 biolink:PhenotypicFeature HP:0011097 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012762 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001322 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001889 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002305 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0002536 biolink:PhenotypicFeature HP:0007503 biolink:PhenotypicFeature HP:0010719 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0010821 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0030215 biolink:PhenotypicFeature HP:0100633 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature Orphanet:98892 biolink:Disease Periventricular nodular heterotopia HP:0001892 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0007165 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0012639 biolink:PhenotypicFeature HP:0001724 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0003834 biolink:PhenotypicFeature Orphanet:88618 biolink:Disease S-adenosylhomocysteine hydrolase deficiency HP:0002160 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0010901 biolink:PhenotypicFeature HP:0010919 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0001976 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003429 biolink:PhenotypicFeature HP:0003560 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0008169 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011900 biolink:PhenotypicFeature HP:0011996 biolink:PhenotypicFeature HP:0012110 biolink:PhenotypicFeature HP:0012201 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003235 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0010719 biolink:PhenotypicFeature HP:0012704 biolink:PhenotypicFeature Orphanet:70474 biolink:Disease Leigh syndrome with cardiomyopathy HP:0000496 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0002538 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0006999 biolink:PhenotypicFeature HP:0007110 biolink:PhenotypicFeature HP:0007159 biolink:PhenotypicFeature HP:0007941 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0030085 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0000091 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000570 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001947 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002339 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002415 biolink:PhenotypicFeature HP:0002453 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0007204 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010663 biolink:PhenotypicFeature HP:0012707 biolink:PhenotypicFeature HP:0025045 biolink:PhenotypicFeature HP:0031546 biolink:PhenotypicFeature HP:0200147 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature Orphanet:182050 biolink:Disease MYH9-related disease HP:0001905 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000123 biolink:PhenotypicFeature HP:0000132 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001902 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003010 biolink:PhenotypicFeature HP:0004406 biolink:PhenotypicFeature HP:0007819 biolink:PhenotypicFeature HP:0008264 biolink:PhenotypicFeature HP:0011877 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature Orphanet:3063 biolink:Disease X-linked intellectual disability, Snyder type HP:0002751 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010511 biolink:PhenotypicFeature HP:0011308 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000029 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0003698 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0007509 biolink:PhenotypicFeature HP:0007687 biolink:PhenotypicFeature HP:0010722 biolink:PhenotypicFeature HP:0011153 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0000086 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000378 biolink:PhenotypicFeature HP:0000385 biolink:PhenotypicFeature HP:0000391 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001355 biolink:PhenotypicFeature HP:0002181 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0010789 biolink:PhenotypicFeature HP:0011003 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature Orphanet:2494 biolink:Disease Ménétrier disease HP:0004295 biolink:PhenotypicFeature HP:0005246 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003075 biolink:PhenotypicFeature HP:0004395 biolink:PhenotypicFeature HP:0005202 biolink:PhenotypicFeature HP:0012398 biolink:PhenotypicFeature HP:0025406 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0004394 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0004840 biolink:PhenotypicFeature HP:0012126 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature Orphanet:2958 biolink:Disease X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001098 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001776 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0005815 biolink:PhenotypicFeature HP:0010499 biolink:PhenotypicFeature HP:0010781 biolink:PhenotypicFeature HP:0011064 biolink:PhenotypicFeature HP:0040019 biolink:PhenotypicFeature Orphanet:2375 biolink:Disease Laryngeal abductor paralysis-intellectual disability syndrome HP:0001605 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0004886 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0012768 biolink:PhenotypicFeature Orphanet:3052 biolink:Disease X-linked intellectual disability-seizures-psoriasis syndrome HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0003765 biolink:PhenotypicFeature HP:0003538 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature Orphanet:98673 biolink:Disease Autosomal dominant optic atrophy, classic form HP:0000505 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000551 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0012511 biolink:PhenotypicFeature HP:0025514 biolink:PhenotypicFeature HP:0030515 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000603 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001972 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002135 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0007366 biolink:PhenotypicFeature HP:0007371 biolink:PhenotypicFeature HP:0009921 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:244242 biolink:Disease HELLP syndrome HP:0001873 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0004324 biolink:PhenotypicFeature HP:0007430 biolink:PhenotypicFeature HP:0008071 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0011900 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100602 biolink:PhenotypicFeature HP:0001058 biolink:PhenotypicFeature HP:0001937 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003641 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature HP:0011419 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0025547 biolink:PhenotypicFeature HP:0030834 biolink:PhenotypicFeature HP:0100598 biolink:PhenotypicFeature HP:0100601 biolink:PhenotypicFeature HP:0410019 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0011029 biolink:PhenotypicFeature Orphanet:415 biolink:Disease Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HP:0001347 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0011965 biolink:PhenotypicFeature HP:0012026 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002038 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002370 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0002572 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003218 biolink:PhenotypicFeature HP:0006846 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001950 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0003256 biolink:PhenotypicFeature HP:0007052 biolink:PhenotypicFeature HP:0000533 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0040030 biolink:PhenotypicFeature Orphanet:1201 biolink:Disease Atresia of small intestine HP:0004322 biolink:PhenotypicFeature HP:0005235 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0025015 biolink:PhenotypicFeature HP:0005245 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature Orphanet:79452 biolink:Disease Milroy disease HP:0001004 biolink:PhenotypicFeature HP:0000034 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001785 biolink:PhenotypicFeature HP:0002619 biolink:PhenotypicFeature HP:0002624 biolink:PhenotypicFeature HP:0003550 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0100797 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0100725 biolink:PhenotypicFeature HP:0200058 biolink:PhenotypicFeature HP:0001055 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature Orphanet:90186 biolink:Disease Meige disease HP:0001004 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0002732 biolink:PhenotypicFeature HP:0002849 biolink:PhenotypicFeature HP:0003550 biolink:PhenotypicFeature HP:0005406 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0010781 biolink:PhenotypicFeature HP:0031288 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0000282 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002619 biolink:PhenotypicFeature HP:0007514 biolink:PhenotypicFeature HP:0012027 biolink:PhenotypicFeature HP:0012398 biolink:PhenotypicFeature HP:0100539 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0200058 biolink:PhenotypicFeature Orphanet:1123 biolink:Disease Caudal appendage-deafness syndrome HP:0000028 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002825 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008610 biolink:PhenotypicFeature HP:0011297 biolink:PhenotypicFeature Orphanet:90280 biolink:Disease Chilblain lupus HP:0000962 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0002923 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0025131 biolink:PhenotypicFeature HP:0025300 biolink:PhenotypicFeature HP:0030350 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0030899 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0003613 biolink:PhenotypicFeature HP:0007417 biolink:PhenotypicFeature HP:0012325 biolink:PhenotypicFeature Orphanet:3417 biolink:Disease Van den Bosch syndrome HP:0000512 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0001139 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0002046 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0007476 biolink:PhenotypicFeature HP:0011003 biolink:PhenotypicFeature HP:0030203 biolink:PhenotypicFeature HP:0200016 biolink:PhenotypicFeature Orphanet:93932 biolink:Disease FG syndrome type 1 HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000378 biolink:PhenotypicFeature HP:0000402 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000475 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000766 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001533 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001837 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002236 biolink:PhenotypicFeature HP:0002250 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002761 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004492 biolink:PhenotypicFeature HP:0004785 biolink:PhenotypicFeature HP:0005852 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008935 biolink:PhenotypicFeature HP:0011090 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0012506 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0005876 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0009762 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0040022 biolink:PhenotypicFeature Orphanet:713 biolink:Disease Glycogen storage disease due to phosphoglycerate kinase 1 deficiency HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0001923 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0002913 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003738 biolink:PhenotypicFeature HP:0009020 biolink:PhenotypicFeature HP:0012638 biolink:PhenotypicFeature HP:0020062 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature Orphanet:255210 biolink:Disease Mitochondrial DNA-associated Leigh syndrome HP:0002104 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002483 biolink:PhenotypicFeature HP:0002883 biolink:PhenotypicFeature HP:0003348 biolink:PhenotypicFeature HP:0003481 biolink:PhenotypicFeature HP:0003737 biolink:PhenotypicFeature HP:0004885 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0031434 biolink:PhenotypicFeature HP:0031546 biolink:PhenotypicFeature HP:0100611 biolink:PhenotypicFeature HP:0003200 biolink:PhenotypicFeature HP:0003572 biolink:PhenotypicFeature HP:0000816 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002572 biolink:PhenotypicFeature HP:0003648 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007183 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0000091 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature Orphanet:255249 biolink:Disease Leigh syndrome with nephrotic syndrome HP:0000100 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0012597 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002572 biolink:PhenotypicFeature HP:0004900 biolink:PhenotypicFeature HP:0007183 biolink:PhenotypicFeature HP:0007334 biolink:PhenotypicFeature HP:0007430 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011193 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001947 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0007965 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature Orphanet:3078 biolink:Disease Severe X-linked intellectual disability, Gustavson type HP:0000252 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0008850 biolink:PhenotypicFeature HP:0012715 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0002198 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0005486 biolink:PhenotypicFeature HP:0005949 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0001848 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005781 biolink:PhenotypicFeature HP:0006829 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0008110 biolink:PhenotypicFeature Orphanet:3077 biolink:Disease X-linked intellectual disability-psychosis-macroorchidism syndrome HP:0000053 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006919 biolink:PhenotypicFeature HP:0007302 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011188 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature HP:0002362 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0025403 biolink:PhenotypicFeature HP:0100852 biolink:PhenotypicFeature Orphanet:51188 biolink:Disease Ethylmalonic encephalopathy HP:0001298 biolink:PhenotypicFeature HP:0003219 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0001063 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0012751 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0012841 biolink:PhenotypicFeature HP:0012747 biolink:PhenotypicFeature Orphanet:263516 biolink:Disease Progressive myoclonic epilepsy type 3 HP:0001249 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0007221 biolink:PhenotypicFeature HP:0007272 biolink:PhenotypicFeature HP:0011166 biolink:PhenotypicFeature HP:0011188 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001327 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0011185 biolink:PhenotypicFeature HP:0012462 biolink:PhenotypicFeature HP:0045084 biolink:PhenotypicFeature Orphanet:35689 biolink:Disease Primary lateral sclerosis HP:0001257 biolink:PhenotypicFeature HP:0002127 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007034 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002200 biolink:PhenotypicFeature HP:0002371 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0003444 biolink:PhenotypicFeature HP:0007199 biolink:PhenotypicFeature HP:0010549 biolink:PhenotypicFeature HP:0006827 biolink:PhenotypicFeature HP:0007002 biolink:PhenotypicFeature HP:0010873 biolink:PhenotypicFeature HP:0002366 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature Orphanet:500150 biolink:Disease Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002538 biolink:PhenotypicFeature HP:0003508 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000891 biolink:PhenotypicFeature HP:0000902 biolink:PhenotypicFeature HP:0001027 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002140 biolink:PhenotypicFeature HP:0002212 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002578 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0003100 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004315 biolink:PhenotypicFeature HP:0004433 biolink:PhenotypicFeature HP:0004442 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005639 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0006970 biolink:PhenotypicFeature HP:0006989 biolink:PhenotypicFeature HP:0007100 biolink:PhenotypicFeature HP:0007933 biolink:PhenotypicFeature HP:0008765 biolink:PhenotypicFeature HP:0009777 biolink:PhenotypicFeature HP:0009879 biolink:PhenotypicFeature HP:0010485 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011330 biolink:PhenotypicFeature HP:0011467 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0011648 biolink:PhenotypicFeature HP:0011819 biolink:PhenotypicFeature HP:0012582 biolink:PhenotypicFeature HP:0025116 biolink:PhenotypicFeature HP:0030707 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0100307 biolink:PhenotypicFeature HP:0100702 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0430021 biolink:PhenotypicFeature Orphanet:488613 biolink:Disease Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome HP:0002376 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0007772 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011198 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002474 biolink:PhenotypicFeature HP:0010841 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature Orphanet:849 biolink:Disease Glanzmann thrombasthenia HP:0003010 biolink:PhenotypicFeature HP:0004406 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0004846 biolink:PhenotypicFeature HP:0030137 biolink:PhenotypicFeature HP:0000132 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0007420 biolink:PhenotypicFeature HP:0012587 biolink:PhenotypicFeature HP:0031364 biolink:PhenotypicFeature HP:0400008 biolink:PhenotypicFeature HP:0011871 biolink:PhenotypicFeature HP:0004866 biolink:PhenotypicFeature HP:0008148 biolink:PhenotypicFeature HP:0011870 biolink:PhenotypicFeature HP:0011872 biolink:PhenotypicFeature HP:0011894 biolink:PhenotypicFeature HP:0031128 biolink:PhenotypicFeature Orphanet:274 biolink:Disease Bernard-Soulier syndrome HP:0011871 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001902 biolink:PhenotypicFeature HP:0011879 biolink:PhenotypicFeature HP:0040185 biolink:PhenotypicFeature HP:0000132 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0004406 biolink:PhenotypicFeature HP:0006298 biolink:PhenotypicFeature HP:0007420 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0002248 biolink:PhenotypicFeature HP:0004846 biolink:PhenotypicFeature HP:0012143 biolink:PhenotypicFeature HP:0012587 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0008738 biolink:PhenotypicFeature Orphanet:508488 biolink:Disease 8q24.3 microdeletion syndrome HP:0001263 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000321 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002474 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004220 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010722 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0040019 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000125 biolink:PhenotypicFeature HP:0000300 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000480 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000744 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000817 biolink:PhenotypicFeature HP:0000891 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001660 biolink:PhenotypicFeature HP:0001674 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001738 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002943 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003097 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0005176 biolink:PhenotypicFeature HP:0005306 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0006695 biolink:PhenotypicFeature HP:0007633 biolink:PhenotypicFeature HP:0009237 biolink:PhenotypicFeature HP:0009796 biolink:PhenotypicFeature HP:0010109 biolink:PhenotypicFeature HP:0010511 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature HP:0010609 biolink:PhenotypicFeature HP:0010733 biolink:PhenotypicFeature HP:0011067 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011332 biolink:PhenotypicFeature HP:0011406 biolink:PhenotypicFeature HP:0011755 biolink:PhenotypicFeature HP:0012304 biolink:PhenotypicFeature HP:0012584 biolink:PhenotypicFeature HP:0100033 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature HP:0410003 biolink:PhenotypicFeature HP:3000038 biolink:PhenotypicFeature Orphanet:443167 biolink:Disease NUT midline carcinoma HP:0002664 biolink:PhenotypicFeature HP:0001909 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0003006 biolink:PhenotypicFeature HP:0012182 biolink:PhenotypicFeature HP:0012254 biolink:PhenotypicFeature HP:0045026 biolink:PhenotypicFeature HP:0100757 biolink:PhenotypicFeature HP:0012142 biolink:PhenotypicFeature Orphanet:139536 biolink:Disease Distal hereditary motor neuropathy type 5 HP:0002317 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0003392 biolink:PhenotypicFeature HP:0003393 biolink:PhenotypicFeature HP:0003426 biolink:PhenotypicFeature HP:0003427 biolink:PhenotypicFeature HP:0003435 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0007178 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001765 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature HP:0040131 biolink:PhenotypicFeature Orphanet:2137 biolink:Disease Autoimmune hepatitis HP:0003237 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003262 biolink:PhenotypicFeature HP:0003453 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0030908 biolink:PhenotypicFeature HP:0030909 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0012432 biolink:PhenotypicFeature HP:0012522 biolink:PhenotypicFeature HP:0000099 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002037 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0003573 biolink:PhenotypicFeature HP:0006555 biolink:PhenotypicFeature HP:0030991 biolink:PhenotypicFeature HP:0100279 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature HP:0200119 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0004787 biolink:PhenotypicFeature HP:0006562 biolink:PhenotypicFeature Orphanet:2157 biolink:Disease Histidinemia HP:0002927 biolink:PhenotypicFeature HP:0010906 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature Orphanet:79124 biolink:Disease Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0003139 biolink:PhenotypicFeature HP:0030355 biolink:PhenotypicFeature HP:0030782 biolink:PhenotypicFeature HP:0040088 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002743 biolink:PhenotypicFeature HP:0002849 biolink:PhenotypicFeature HP:0004429 biolink:PhenotypicFeature HP:0005403 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0030374 biolink:PhenotypicFeature HP:0031123 biolink:PhenotypicFeature HP:0000016 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002100 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002385 biolink:PhenotypicFeature HP:0002415 biolink:PhenotypicFeature HP:0002722 biolink:PhenotypicFeature HP:0002728 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0010550 biolink:PhenotypicFeature HP:0031218 biolink:PhenotypicFeature HP:0040223 biolink:PhenotypicFeature HP:0100626 biolink:PhenotypicFeature HP:0410018 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0040089 biolink:PhenotypicFeature Orphanet:478029 biolink:Disease Combined oxidative phosphorylation defect type 29 HP:0000488 biolink:PhenotypicFeature HP:0001138 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002180 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature HP:0002370 biolink:PhenotypicFeature HP:0002416 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003739 biolink:PhenotypicFeature HP:0003808 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0011923 biolink:PhenotypicFeature HP:0011924 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0030884 biolink:PhenotypicFeature HP:0040078 biolink:PhenotypicFeature HP:0100275 biolink:PhenotypicFeature Orphanet:66634 biolink:Disease Dilated cardiomyopathy with ataxia HP:0001251 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0003530 biolink:PhenotypicFeature HP:0003535 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0004840 biolink:PhenotypicFeature HP:0004856 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000051 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001414 biolink:PhenotypicFeature HP:0001998 biolink:PhenotypicFeature HP:0008689 biolink:PhenotypicFeature HP:0008736 biolink:PhenotypicFeature HP:0011623 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002345 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0003700 biolink:PhenotypicFeature HP:0007146 biolink:PhenotypicFeature HP:0007366 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0008762 biolink:PhenotypicFeature HP:0009110 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0100702 biolink:PhenotypicFeature Orphanet:254864 biolink:Disease Mitochondrial myopathy with reversible cytochrome C oxidase deficiency HP:0001290 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003200 biolink:PhenotypicFeature HP:0003688 biolink:PhenotypicFeature HP:0009051 biolink:PhenotypicFeature HP:0009058 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0004900 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0011923 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003234 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0005946 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature Orphanet:264675 biolink:Disease Hereditary pulmonary alveolar proteinosis HP:0010876 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0025391 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0003651 biolink:PhenotypicFeature HP:0011949 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0030830 biolink:PhenotypicFeature HP:0031029 biolink:PhenotypicFeature Orphanet:79147 biolink:Disease Familial reactive perforating collagenosis HP:0001231 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0030350 biolink:PhenotypicFeature HP:0040186 biolink:PhenotypicFeature HP:0005585 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0011124 biolink:PhenotypicFeature HP:0025164 biolink:PhenotypicFeature HP:0031512 biolink:PhenotypicFeature HP:0045059 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000606 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001965 biolink:PhenotypicFeature HP:0007473 biolink:PhenotypicFeature HP:0012322 biolink:PhenotypicFeature HP:0011830 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001005 biolink:PhenotypicFeature Orphanet:284984 biolink:Disease Aneurysm-osteoarthritis syndrome HP:0001763 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0011645 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000139 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0001065 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002647 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0003179 biolink:PhenotypicFeature HP:0004268 biolink:PhenotypicFeature HP:0004944 biolink:PhenotypicFeature HP:0005086 biolink:PhenotypicFeature HP:0005116 biolink:PhenotypicFeature HP:0005294 biolink:PhenotypicFeature HP:0012432 biolink:PhenotypicFeature HP:0025487 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0003302 biolink:PhenotypicFeature HP:0004953 biolink:PhenotypicFeature HP:0005110 biolink:PhenotypicFeature HP:0008419 biolink:PhenotypicFeature HP:0010886 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100775 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature Orphanet:370348 biolink:Disease Peripheral primitive neuroectodermal tumor HP:0030067 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001965 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0002894 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0010302 biolink:PhenotypicFeature HP:0010784 biolink:PhenotypicFeature HP:0012513 biolink:PhenotypicFeature HP:0030692 biolink:PhenotypicFeature HP:0031030 biolink:PhenotypicFeature HP:0031501 biolink:PhenotypicFeature HP:0100608 biolink:PhenotypicFeature HP:0100615 biolink:PhenotypicFeature HP:0100711 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0006254 biolink:PhenotypicFeature HP:0011932 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0100849 biolink:PhenotypicFeature Orphanet:2714 biolink:Disease Oculo-palato-cerebral syndrome HP:0000568 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000391 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000555 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006913 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0007968 biolink:PhenotypicFeature HP:0008386 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature Orphanet:505237 biolink:Disease Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0001250 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001187 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003121 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0008772 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature Orphanet:1051 biolink:Disease Ramos-Arroyo syndrome HP:0000309 biolink:PhenotypicFeature HP:0012155 biolink:PhenotypicFeature HP:0000283 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000579 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001525 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007980 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0011120 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0030491 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000452 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000533 biolink:PhenotypicFeature HP:0000620 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000742 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0004411 biolink:PhenotypicFeature HP:0006979 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009890 biolink:PhenotypicFeature HP:0010298 biolink:PhenotypicFeature HP:0010782 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0012537 biolink:PhenotypicFeature HP:0012804 biolink:PhenotypicFeature HP:0045025 biolink:PhenotypicFeature Orphanet:94093 biolink:Disease Neuroleptic malignant syndrome HP:0000975 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0007076 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003781 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001894 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0002905 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0002913 biolink:PhenotypicFeature HP:0002917 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0003228 biolink:PhenotypicFeature HP:0010553 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0025145 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0031258 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0100735 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:314769 biolink:Disease Somatomammotropinoma HP:0000098 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000830 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001769 biolink:PhenotypicFeature HP:0001869 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003859 biolink:PhenotypicFeature HP:0004099 biolink:PhenotypicFeature HP:0006191 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0006767 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0011760 biolink:PhenotypicFeature HP:0012802 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0100607 biolink:PhenotypicFeature HP:0100829 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature HP:0100786 biolink:PhenotypicFeature Orphanet:2266 biolink:Disease Hypotrichosis-intellectual disability, Lopes type HP:0001006 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0006088 biolink:PhenotypicFeature HP:0006288 biolink:PhenotypicFeature Orphanet:525731 biolink:Disease Pediatric-onset Graves disease HP:0002960 biolink:PhenotypicFeature HP:0011703 biolink:PhenotypicFeature HP:0011784 biolink:PhenotypicFeature HP:0031506 biolink:PhenotypicFeature HP:0100647 biolink:PhenotypicFeature HP:0000237 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000720 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000853 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0008373 biolink:PhenotypicFeature HP:0011788 biolink:PhenotypicFeature HP:0025379 biolink:PhenotypicFeature HP:0031284 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0005110 biolink:PhenotypicFeature HP:0010519 biolink:PhenotypicFeature HP:0100534 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001904 biolink:PhenotypicFeature HP:0012768 biolink:PhenotypicFeature HP:0200028 biolink:PhenotypicFeature Orphanet:2172 biolink:Disease Microcephaly-glomerulonephritis-marfanoid habitus syndrome HP:0000099 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002942 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature Orphanet:488333 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2W HP:0002166 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0008959 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0007002 biolink:PhenotypicFeature HP:0001765 biolink:PhenotypicFeature HP:0003100 biolink:PhenotypicFeature HP:0003438 biolink:PhenotypicFeature HP:0006937 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0008954 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0030051 biolink:PhenotypicFeature HP:0030237 biolink:PhenotypicFeature Orphanet:99947 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2A2 HP:0001760 biolink:PhenotypicFeature HP:0003390 biolink:PhenotypicFeature HP:0003438 biolink:PhenotypicFeature HP:0003444 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0002522 biolink:PhenotypicFeature HP:0002601 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0006460 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature HP:0025238 biolink:PhenotypicFeature HP:0030237 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001605 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0002143 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0003731 biolink:PhenotypicFeature HP:0006844 biolink:PhenotypicFeature HP:0006915 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0012452 biolink:PhenotypicFeature HP:0012513 biolink:PhenotypicFeature HP:0031108 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature Orphanet:324442 biolink:Disease Autosomal recessive axonal neuropathy with neuromyotonia HP:0002411 biolink:PhenotypicFeature HP:0002486 biolink:PhenotypicFeature HP:0003444 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0100288 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003438 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0003710 biolink:PhenotypicFeature HP:0007002 biolink:PhenotypicFeature HP:0007178 biolink:PhenotypicFeature HP:0007289 biolink:PhenotypicFeature HP:0012899 biolink:PhenotypicFeature HP:0030198 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001771 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0002356 biolink:PhenotypicFeature HP:0002505 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0003390 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003409 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0003760 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0008954 biolink:PhenotypicFeature HP:0008991 biolink:PhenotypicFeature HP:0009005 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0009049 biolink:PhenotypicFeature HP:0009077 biolink:PhenotypicFeature HP:0009130 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002943 biolink:PhenotypicFeature HP:0004686 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:254361 biolink:Disease Plectin-related limb-girdle muscular dystrophy R17 HP:0009073 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003325 biolink:PhenotypicFeature HP:0003391 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0003749 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature HP:0040287 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0001771 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0040266 biolink:PhenotypicFeature HP:0430025 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0004631 biolink:PhenotypicFeature HP:0011712 biolink:PhenotypicFeature HP:0011950 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0030208 biolink:PhenotypicFeature Orphanet:2269 biolink:Disease Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome HP:0001249 biolink:PhenotypicFeature HP:0002221 biolink:PhenotypicFeature HP:0002293 biolink:PhenotypicFeature HP:0002555 biolink:PhenotypicFeature HP:0005597 biolink:PhenotypicFeature HP:0007503 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000973 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0005595 biolink:PhenotypicFeature HP:0012472 biolink:PhenotypicFeature HP:0025092 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001103 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0010550 biolink:PhenotypicFeature HP:0030182 biolink:PhenotypicFeature Orphanet:352479 biolink:Disease ISPD-related limb-girdle muscular dystrophy R20 HP:0003325 biolink:PhenotypicFeature HP:0030046 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0002792 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003707 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0030234 biolink:PhenotypicFeature HP:0002505 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0008305 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0011446 biolink:PhenotypicFeature Orphanet:2324 biolink:Disease Osteopenia-intellectual disability-sparse hair syndrome HP:0000316 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0005692 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001757 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:2282 biolink:Disease Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000037 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000049 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000185 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0011819 biolink:PhenotypicFeature Orphanet:251639 biolink:Disease Subependymoma HP:0002888 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0025461 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0010302 biolink:PhenotypicFeature HP:0012534 biolink:PhenotypicFeature HP:0030693 biolink:PhenotypicFeature HP:0002896 biolink:PhenotypicFeature HP:0100013 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature HP:0100615 biolink:PhenotypicFeature Orphanet:251636 biolink:Disease Ependymoma HP:0002888 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0025461 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0010302 biolink:PhenotypicFeature HP:0012534 biolink:PhenotypicFeature HP:0030693 biolink:PhenotypicFeature HP:0002896 biolink:PhenotypicFeature HP:0100013 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature HP:0100615 biolink:PhenotypicFeature Orphanet:2409 biolink:Disease Lowry-MacLean syndrome HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000680 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001087 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002012 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000078 biolink:PhenotypicFeature HP:0000237 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000485 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003194 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004439 biolink:PhenotypicFeature HP:0004554 biolink:PhenotypicFeature HP:0005211 biolink:PhenotypicFeature HP:0005442 biolink:PhenotypicFeature HP:0006695 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008033 biolink:PhenotypicFeature HP:0008689 biolink:PhenotypicFeature HP:0011087 biolink:PhenotypicFeature HP:0025247 biolink:PhenotypicFeature HP:0100538 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature Orphanet:251643 biolink:Disease Myxopapillary ependymoma HP:0100006 biolink:PhenotypicFeature HP:0005107 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0000372 biolink:PhenotypicFeature HP:0002888 biolink:PhenotypicFeature HP:0031938 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0005341 biolink:PhenotypicFeature HP:0012700 biolink:PhenotypicFeature HP:0030833 biolink:PhenotypicFeature Orphanet:2463 biolink:Disease Marfanoid habitus-autosomal recessive intellectual disability syndrome HP:0000160 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000883 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001833 biolink:PhenotypicFeature HP:0003393 biolink:PhenotypicFeature HP:0006086 biolink:PhenotypicFeature HP:0008050 biolink:PhenotypicFeature HP:0008078 biolink:PhenotypicFeature HP:0009004 biolink:PhenotypicFeature HP:0009929 biolink:PhenotypicFeature HP:0010487 biolink:PhenotypicFeature HP:0011822 biolink:PhenotypicFeature HP:0011849 biolink:PhenotypicFeature HP:0012157 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0000289 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0003100 biolink:PhenotypicFeature HP:0003782 biolink:PhenotypicFeature HP:0012771 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000777 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0008439 biolink:PhenotypicFeature HP:0009002 biolink:PhenotypicFeature HP:0100579 biolink:PhenotypicFeature Orphanet:2437 biolink:Disease Czeizel-Losonci syndrome HP:0000079 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0001839 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0012300 biolink:PhenotypicFeature HP:0025193 biolink:PhenotypicFeature HP:0100257 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001233 biolink:PhenotypicFeature HP:0001651 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0002557 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0002944 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0006097 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0008589 biolink:PhenotypicFeature HP:0008593 biolink:PhenotypicFeature HP:0008676 biolink:PhenotypicFeature HP:0009112 biolink:PhenotypicFeature HP:0010539 biolink:PhenotypicFeature HP:0010704 biolink:PhenotypicFeature HP:0040021 biolink:PhenotypicFeature HP:0045026 biolink:PhenotypicFeature HP:0100760 biolink:PhenotypicFeature Orphanet:2736 biolink:Disease Lethal omphalocele-cleft palate syndrome HP:0000175 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0000136 biolink:PhenotypicFeature HP:0000185 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0100333 biolink:PhenotypicFeature Orphanet:2502 biolink:Disease Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome HP:0000405 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0005899 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0001169 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001769 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001964 biolink:PhenotypicFeature HP:0002868 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0002979 biolink:PhenotypicFeature HP:0003015 biolink:PhenotypicFeature HP:0003016 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003085 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0006009 biolink:PhenotypicFeature HP:0006413 biolink:PhenotypicFeature HP:0006417 biolink:PhenotypicFeature HP:0008110 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature HP:0009760 biolink:PhenotypicFeature HP:0100255 biolink:PhenotypicFeature HP:0100864 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature Orphanet:2751 biolink:Disease Orofaciodigital syndrome type 2 HP:0002104 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0004987 biolink:PhenotypicFeature HP:0005349 biolink:PhenotypicFeature HP:0005873 biolink:PhenotypicFeature HP:0006342 biolink:PhenotypicFeature HP:0006436 biolink:PhenotypicFeature HP:0006695 biolink:PhenotypicFeature HP:0007768 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0010230 biolink:PhenotypicFeature HP:0011087 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0100702 biolink:PhenotypicFeature HP:0100874 biolink:PhenotypicFeature HP:0410033 biolink:PhenotypicFeature HP:0000050 biolink:PhenotypicFeature HP:0000695 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0009776 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000161 biolink:PhenotypicFeature HP:0000190 biolink:PhenotypicFeature HP:0000199 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000685 biolink:PhenotypicFeature HP:0001841 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006042 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006289 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0010068 biolink:PhenotypicFeature HP:0010100 biolink:PhenotypicFeature HP:0010297 biolink:PhenotypicFeature HP:0011802 biolink:PhenotypicFeature HP:0011819 biolink:PhenotypicFeature HP:0040019 biolink:PhenotypicFeature HP:0000220 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000679 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature Orphanet:2752 biolink:Disease Orofaciodigital syndrome type 3 HP:0000164 biolink:PhenotypicFeature HP:0000180 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000879 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001830 biolink:PhenotypicFeature HP:0002942 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011168 biolink:PhenotypicFeature HP:0011802 biolink:PhenotypicFeature HP:0012489 biolink:PhenotypicFeature HP:0012547 biolink:PhenotypicFeature HP:0040079 biolink:PhenotypicFeature HP:0010729 biolink:PhenotypicFeature HP:0012044 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0010719 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature Orphanet:2788 biolink:Disease Osteoporosis-pseudoglioma syndrome HP:0000939 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001141 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0003016 biolink:PhenotypicFeature HP:0004327 biolink:PhenotypicFeature HP:0006367 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature HP:0007875 biolink:PhenotypicFeature HP:0007898 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0012052 biolink:PhenotypicFeature HP:0012109 biolink:PhenotypicFeature HP:0030490 biolink:PhenotypicFeature HP:0040069 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0003366 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006934 biolink:PhenotypicFeature HP:0030551 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0008236 biolink:PhenotypicFeature HP:0030515 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature Orphanet:2865 biolink:Disease Short stature-webbed neck-heart disease syndrome HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature Orphanet:2919 biolink:Disease Orofaciodigital syndrome type 5 HP:0002251 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0004736 biolink:PhenotypicFeature HP:0005817 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0010441 biolink:PhenotypicFeature HP:0010800 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0012738 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature HP:0000161 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001830 biolink:PhenotypicFeature HP:0000191 biolink:PhenotypicFeature HP:0000288 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0010297 biolink:PhenotypicFeature HP:0000185 biolink:PhenotypicFeature HP:0000190 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature Orphanet:2920 biolink:Disease Oliver syndrome HP:0001162 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001830 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0010554 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000385 biolink:PhenotypicFeature HP:0000387 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0001212 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001812 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:2921 biolink:Disease Preaxial polydactyly-colobomata-intellectual disability syndrome HP:0000480 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0007744 biolink:PhenotypicFeature HP:0100258 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001141 biolink:PhenotypicFeature HP:0012109 biolink:PhenotypicFeature HP:0030515 biolink:PhenotypicFeature Orphanet:3010 biolink:Disease Qazi-Markouizos syndrome HP:0001216 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0200000 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000289 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000685 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature Orphanet:3041 biolink:Disease Intellectual disability-balding-patella luxation-acromicria syndrome HP:0001761 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0002942 biolink:PhenotypicFeature HP:0002944 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0004692 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0008414 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0030044 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002234 biolink:PhenotypicFeature HP:0002292 biolink:PhenotypicFeature HP:0003086 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000635 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0003065 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0003758 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010499 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000742 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0001187 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature Orphanet:3044 biolink:Disease Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome HP:0000276 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002225 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0003191 biolink:PhenotypicFeature HP:0003782 biolink:PhenotypicFeature HP:0008232 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0011969 biolink:PhenotypicFeature HP:0012809 biolink:PhenotypicFeature HP:0040171 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0100783 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0008988 biolink:PhenotypicFeature Orphanet:3101 biolink:Disease Richieri Costa-da Silva syndrome HP:0000768 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006462 biolink:PhenotypicFeature HP:0011964 biolink:PhenotypicFeature HP:0012899 biolink:PhenotypicFeature HP:0012903 biolink:PhenotypicFeature HP:0001621 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature HP:0003712 biolink:PhenotypicFeature HP:0005638 biolink:PhenotypicFeature HP:0008422 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0100288 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0004568 biolink:PhenotypicFeature HP:0007156 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001540 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature Orphanet:3132 biolink:Disease Say-Barber-Miller syndrome HP:0000252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0005432 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002654 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003065 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0005001 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0012219 biolink:PhenotypicFeature HP:0012490 biolink:PhenotypicFeature HP:0040238 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000608 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000692 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001193 biolink:PhenotypicFeature HP:0001583 biolink:PhenotypicFeature HP:0001772 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002843 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0004315 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005659 biolink:PhenotypicFeature HP:0006895 biolink:PhenotypicFeature HP:0007034 biolink:PhenotypicFeature HP:0007105 biolink:PhenotypicFeature HP:0009553 biolink:PhenotypicFeature HP:0011431 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0031008 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature Orphanet:798 biolink:Disease Schinzel-Giedion syndrome HP:0000337 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012736 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000078 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000329 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000586 biolink:PhenotypicFeature HP:0000885 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0004554 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature HP:0000168 biolink:PhenotypicFeature HP:0000187 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000375 biolink:PhenotypicFeature HP:0000452 biolink:PhenotypicFeature HP:0000522 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001545 biolink:PhenotypicFeature HP:0001734 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002190 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0002694 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002982 biolink:PhenotypicFeature HP:0003173 biolink:PhenotypicFeature HP:0007099 biolink:PhenotypicFeature HP:0008610 biolink:PhenotypicFeature HP:0008628 biolink:PhenotypicFeature HP:0009792 biolink:PhenotypicFeature HP:0010034 biolink:PhenotypicFeature HP:0010464 biolink:PhenotypicFeature HP:0010557 biolink:PhenotypicFeature HP:0045005 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000069 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001605 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature HP:0002884 biolink:PhenotypicFeature HP:0002888 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0005349 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0009748 biolink:PhenotypicFeature HP:0011097 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0011787 biolink:PhenotypicFeature HP:0012324 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0025259 biolink:PhenotypicFeature HP:0030736 biolink:PhenotypicFeature Orphanet:79499 biolink:Disease Autosomal dominant deafness-onychodystrophy syndrome HP:0001817 biolink:PhenotypicFeature HP:0008625 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001802 biolink:PhenotypicFeature HP:0008386 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0001057 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0012554 biolink:PhenotypicFeature HP:0200104 biolink:PhenotypicFeature HP:0200141 biolink:PhenotypicFeature Orphanet:79500 biolink:Disease DOORS syndrome HP:0009830 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0031282 biolink:PhenotypicFeature HP:0031423 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000878 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001894 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002139 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0004626 biolink:PhenotypicFeature HP:0006934 biolink:PhenotypicFeature HP:0008110 biolink:PhenotypicFeature HP:0008221 biolink:PhenotypicFeature HP:0010497 biolink:PhenotypicFeature HP:0011326 biolink:PhenotypicFeature HP:0011409 biolink:PhenotypicFeature HP:0012725 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001780 biolink:PhenotypicFeature HP:0001817 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0012810 biolink:PhenotypicFeature HP:0100797 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0009237 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010347 biolink:PhenotypicFeature HP:0012402 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000187 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000200 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000675 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000696 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000851 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0001719 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0004442 biolink:PhenotypicFeature HP:0005306 biolink:PhenotypicFeature Orphanet:529965 biolink:Disease Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0007874 biolink:PhenotypicFeature HP:0010648 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012393 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0001211 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature Orphanet:352470 biolink:Disease DNA2-related mitochondrial DNA deletion syndrome HP:0000590 biolink:PhenotypicFeature HP:0003325 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001533 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003391 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003737 biolink:PhenotypicFeature HP:0004673 biolink:PhenotypicFeature HP:0007970 biolink:PhenotypicFeature HP:0008331 biolink:PhenotypicFeature HP:0040013 biolink:PhenotypicFeature Orphanet:352447 biolink:Disease Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0000590 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003200 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0003700 biolink:PhenotypicFeature HP:0008443 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0040013 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature Orphanet:79665 biolink:Disease Gardner syndrome HP:0004394 biolink:PhenotypicFeature HP:0005227 biolink:PhenotypicFeature HP:0003003 biolink:PhenotypicFeature HP:0004783 biolink:PhenotypicFeature HP:0007649 biolink:PhenotypicFeature HP:0012032 biolink:PhenotypicFeature HP:0025388 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0002895 biolink:PhenotypicFeature HP:0006283 biolink:PhenotypicFeature HP:0008256 biolink:PhenotypicFeature HP:0010562 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0100245 biolink:PhenotypicFeature HP:0100246 biolink:PhenotypicFeature HP:0200040 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002672 biolink:PhenotypicFeature HP:0002884 biolink:PhenotypicFeature HP:0002885 biolink:PhenotypicFeature HP:0002894 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0006722 biolink:PhenotypicFeature HP:0006744 biolink:PhenotypicFeature HP:0009592 biolink:PhenotypicFeature HP:0011068 biolink:PhenotypicFeature HP:0011459 biolink:PhenotypicFeature HP:0012125 biolink:PhenotypicFeature HP:0030434 biolink:PhenotypicFeature HP:0030692 biolink:PhenotypicFeature HP:0031524 biolink:PhenotypicFeature HP:0100244 biolink:PhenotypicFeature Orphanet:457050 biolink:Disease Autosomal dominant mitochondrial myopathy with exercise intolerance HP:0002091 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0003200 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0003722 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0012240 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0040014 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature Orphanet:600 biolink:Disease Vocal cord and pharyngeal distal myopathy HP:0001260 biolink:PhenotypicFeature HP:0001283 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001430 biolink:PhenotypicFeature HP:0001604 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0001621 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0002835 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0003738 biolink:PhenotypicFeature HP:0003805 biolink:PhenotypicFeature HP:0005934 biolink:PhenotypicFeature HP:0007354 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0008756 biolink:PhenotypicFeature HP:0031374 biolink:PhenotypicFeature HP:0430015 biolink:PhenotypicFeature HP:0003547 biolink:PhenotypicFeature HP:0007149 biolink:PhenotypicFeature HP:0008049 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0009071 biolink:PhenotypicFeature Orphanet:330054 biolink:Disease Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome HP:0000408 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001583 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0012343 biolink:PhenotypicFeature HP:0030089 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature Orphanet:496689 biolink:Disease Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome HP:0001762 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003698 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0007210 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0009129 biolink:PhenotypicFeature HP:0012473 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0040081 biolink:PhenotypicFeature Orphanet:324588 biolink:Disease Familial dyskinesia and facial myokymia HP:0000317 biolink:PhenotypicFeature HP:0002310 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:521390 biolink:Disease Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome HP:0000490 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011400 biolink:PhenotypicFeature HP:0025312 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature Orphanet:320406 biolink:Disease Spastic paraplegia-optic atrophy-neuropathy syndrome HP:0000648 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002267 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002600 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003380 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0007054 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature Orphanet:504476 biolink:Disease Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome HP:0000407 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0008568 biolink:PhenotypicFeature Orphanet:2826 biolink:Disease Spastic paraplegia-precocious puberty syndrome HP:0001260 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0008185 biolink:PhenotypicFeature HP:0010791 biolink:PhenotypicFeature Orphanet:496756 biolink:Disease Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome HP:0002448 biolink:PhenotypicFeature HP:0002497 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0007269 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0003444 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0003698 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0002425 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0007199 biolink:PhenotypicFeature HP:0012678 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0000829 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature Orphanet:95433 biolink:Disease Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome HP:0000365 biolink:PhenotypicFeature HP:0000524 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002346 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0005102 biolink:PhenotypicFeature HP:0006254 biolink:PhenotypicFeature HP:0007126 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007263 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature Orphanet:71272 biolink:Disease Sandifer syndrome HP:0000473 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002457 biolink:PhenotypicFeature HP:0002533 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002036 biolink:PhenotypicFeature HP:0002248 biolink:PhenotypicFeature HP:0004637 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012547 biolink:PhenotypicFeature HP:0100633 biolink:PhenotypicFeature HP:0410019 biolink:PhenotypicFeature HP:0002572 biolink:PhenotypicFeature Orphanet:363429 biolink:Disease Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome HP:0000639 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000571 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001583 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007221 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0100275 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0006951 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature Orphanet:247806 biolink:Disease APC-related attenuated familial adenomatous polyposis HP:0005227 biolink:PhenotypicFeature HP:0003003 biolink:PhenotypicFeature HP:0004394 biolink:PhenotypicFeature HP:0004783 biolink:PhenotypicFeature HP:0002672 biolink:PhenotypicFeature HP:0002885 biolink:PhenotypicFeature HP:0002894 biolink:PhenotypicFeature HP:0002895 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0006744 biolink:PhenotypicFeature HP:0006771 biolink:PhenotypicFeature HP:0007649 biolink:PhenotypicFeature HP:0008256 biolink:PhenotypicFeature HP:0009592 biolink:PhenotypicFeature HP:0010619 biolink:PhenotypicFeature HP:0011068 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0011459 biolink:PhenotypicFeature HP:0012032 biolink:PhenotypicFeature HP:0025388 biolink:PhenotypicFeature HP:0030434 biolink:PhenotypicFeature HP:0100244 biolink:PhenotypicFeature HP:0100245 biolink:PhenotypicFeature HP:0100246 biolink:PhenotypicFeature HP:0200040 biolink:PhenotypicFeature Orphanet:247798 biolink:Disease MUTYH-related attenuated familial adenomatous polyposis HP:0200063 biolink:PhenotypicFeature HP:0005227 biolink:PhenotypicFeature HP:0030255 biolink:PhenotypicFeature HP:0040276 biolink:PhenotypicFeature HP:0100896 biolink:PhenotypicFeature HP:0007649 biolink:PhenotypicFeature HP:0100245 biolink:PhenotypicFeature Orphanet:220460 biolink:Disease Attenuated familial adenomatous polyposis HP:0200063 biolink:PhenotypicFeature HP:0004783 biolink:PhenotypicFeature HP:0005227 biolink:PhenotypicFeature HP:0006753 biolink:PhenotypicFeature HP:0030255 biolink:PhenotypicFeature HP:0100896 biolink:PhenotypicFeature HP:0000131 biolink:PhenotypicFeature HP:0000854 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0009592 biolink:PhenotypicFeature HP:0010614 biolink:PhenotypicFeature HP:0012740 biolink:PhenotypicFeature HP:0040276 biolink:PhenotypicFeature HP:0007649 biolink:PhenotypicFeature Orphanet:157798 biolink:Disease Serrated polyposis syndrome HP:0200063 biolink:PhenotypicFeature HP:0005227 biolink:PhenotypicFeature HP:0100808 biolink:PhenotypicFeature HP:0100834 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0002862 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0006725 biolink:PhenotypicFeature HP:0012125 biolink:PhenotypicFeature HP:0012189 biolink:PhenotypicFeature HP:0100008 biolink:PhenotypicFeature HP:0100574 biolink:PhenotypicFeature HP:0100615 biolink:PhenotypicFeature HP:0100728 biolink:PhenotypicFeature Orphanet:529970 biolink:Disease Male infertility due to acephalic spermatozoa HP:0003251 biolink:PhenotypicFeature HP:0012869 biolink:PhenotypicFeature HP:0000798 biolink:PhenotypicFeature HP:0012207 biolink:PhenotypicFeature HP:0012867 biolink:PhenotypicFeature HP:0002916 biolink:PhenotypicFeature HP:0008226 biolink:PhenotypicFeature Orphanet:261584 biolink:Disease Familial adenomatous polyposis due to 5q22.2 microdeletion HP:0005227 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000215 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001891 biolink:PhenotypicFeature HP:0002234 biolink:PhenotypicFeature HP:0002584 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0004783 biolink:PhenotypicFeature HP:0007649 biolink:PhenotypicFeature HP:0010522 biolink:PhenotypicFeature HP:0011078 biolink:PhenotypicFeature HP:0200040 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001115 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0003003 biolink:PhenotypicFeature HP:0006536 biolink:PhenotypicFeature HP:0007766 biolink:PhenotypicFeature HP:0100245 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0002884 biolink:PhenotypicFeature HP:0100246 biolink:PhenotypicFeature Orphanet:90026 biolink:Disease Primary erythromelalgia HP:0009830 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001872 biolink:PhenotypicFeature HP:0001909 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature Orphanet:157794 biolink:Disease Hereditary mixed polyposis syndrome HP:0001892 biolink:PhenotypicFeature HP:0002573 biolink:PhenotypicFeature HP:0012183 biolink:PhenotypicFeature HP:0003003 biolink:PhenotypicFeature HP:0005227 biolink:PhenotypicFeature HP:0005505 biolink:PhenotypicFeature HP:0007378 biolink:PhenotypicFeature HP:0012198 biolink:PhenotypicFeature HP:0100896 biolink:PhenotypicFeature HP:0200063 biolink:PhenotypicFeature HP:0002576 biolink:PhenotypicFeature HP:0040276 biolink:PhenotypicFeature HP:0100743 biolink:PhenotypicFeature HP:0002890 biolink:PhenotypicFeature HP:0006771 biolink:PhenotypicFeature HP:0012114 biolink:PhenotypicFeature HP:0012125 biolink:PhenotypicFeature HP:0100245 biolink:PhenotypicFeature Orphanet:447877 biolink:Disease Polymerase proofreading-related adenomatous polyposis HP:0005227 biolink:PhenotypicFeature HP:0012114 biolink:PhenotypicFeature HP:0200063 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0030692 biolink:PhenotypicFeature HP:0040276 biolink:PhenotypicFeature HP:0100743 biolink:PhenotypicFeature Orphanet:401911 biolink:Disease AXIN2-related attenuated familial adenomatous polyposis HP:0005227 biolink:PhenotypicFeature HP:0200063 biolink:PhenotypicFeature HP:0003003 biolink:PhenotypicFeature HP:0100743 biolink:PhenotypicFeature HP:0000968 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:3000050 biolink:PhenotypicFeature Orphanet:454840 biolink:Disease NTHL1-related attenuated familial adenomatous polyposis HP:0005227 biolink:PhenotypicFeature HP:0002858 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0003003 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0009725 biolink:PhenotypicFeature HP:0012114 biolink:PhenotypicFeature HP:0100743 biolink:PhenotypicFeature HP:0000138 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0006725 biolink:PhenotypicFeature HP:0006771 biolink:PhenotypicFeature HP:0012539 biolink:PhenotypicFeature HP:0031287 biolink:PhenotypicFeature Orphanet:480536 biolink:Disease MSH3-related attenuated familial adenomatous polyposis HP:0004784 biolink:PhenotypicFeature HP:0005227 biolink:PhenotypicFeature HP:0200063 biolink:PhenotypicFeature HP:0000131 biolink:PhenotypicFeature HP:0000854 biolink:PhenotypicFeature HP:0003003 biolink:PhenotypicFeature HP:0004394 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0009592 biolink:PhenotypicFeature HP:0012126 biolink:PhenotypicFeature HP:0012740 biolink:PhenotypicFeature HP:0100743 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0025274 biolink:PhenotypicFeature Orphanet:59135 biolink:Disease Laing early-onset distal myopathy HP:0009027 biolink:PhenotypicFeature HP:0011916 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000467 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001430 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003323 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003789 biolink:PhenotypicFeature HP:0003803 biolink:PhenotypicFeature HP:0004696 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0008316 biolink:PhenotypicFeature HP:0012507 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0003805 biolink:PhenotypicFeature Orphanet:399096 biolink:Disease Distal anoctaminopathy HP:0003323 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0030234 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0003707 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0009073 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0009049 biolink:PhenotypicFeature Orphanet:98911 biolink:Disease Distal myotilinopathy HP:0001265 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0009063 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0030226 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0006794 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0009073 biolink:PhenotypicFeature Orphanet:502423 biolink:Disease Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome HP:0000218 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000836 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002761 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003391 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0003737 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0009051 biolink:PhenotypicFeature HP:0012032 biolink:PhenotypicFeature HP:0012240 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0100874 biolink:PhenotypicFeature HP:0100887 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature Orphanet:663 biolink:Disease Mitochondrial DNA-related progressive external ophthalmoplegia HP:0000590 biolink:PhenotypicFeature HP:0003800 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0002111 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0003200 biolink:PhenotypicFeature HP:0003327 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0008316 biolink:PhenotypicFeature HP:0009073 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature Orphanet:3208 biolink:Disease Isolated succinate-CoQ reductase deficiency HP:0006801 biolink:PhenotypicFeature HP:0007083 biolink:PhenotypicFeature HP:0007272 biolink:PhenotypicFeature HP:0007350 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002474 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0005150 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006895 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0012817 biolink:PhenotypicFeature HP:0025191 biolink:PhenotypicFeature HP:0040196 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000544 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002333 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0003508 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0003756 biolink:PhenotypicFeature HP:0005162 biolink:PhenotypicFeature Orphanet:98908 biolink:Disease Neutral lipid storage myopathy HP:0003547 biolink:PhenotypicFeature HP:0009073 biolink:PhenotypicFeature HP:0012240 biolink:PhenotypicFeature HP:0012548 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0003391 biolink:PhenotypicFeature HP:0003749 biolink:PhenotypicFeature HP:0008167 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0040081 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000467 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003805 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006280 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0009055 biolink:PhenotypicFeature HP:0009063 biolink:PhenotypicFeature HP:0030237 biolink:PhenotypicFeature HP:0001082 biolink:PhenotypicFeature HP:0012683 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature Orphanet:254875 biolink:Disease Mitochondrial DNA depletion syndrome, myopathic form HP:0003198 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002333 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0003698 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0007105 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009073 biolink:PhenotypicFeature HP:0012432 biolink:PhenotypicFeature HP:0000590 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001283 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0005946 biolink:PhenotypicFeature HP:0008610 biolink:PhenotypicFeature HP:0008625 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0007269 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:399058 biolink:Disease Alpha-B crystallin-related late-onset myopathy HP:0001618 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0009063 biolink:PhenotypicFeature HP:0000467 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0003325 biolink:PhenotypicFeature HP:0003327 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0003736 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0030225 biolink:PhenotypicFeature HP:0040081 biolink:PhenotypicFeature HP:0100020 biolink:PhenotypicFeature HP:0100299 biolink:PhenotypicFeature HP:0001349 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0009073 biolink:PhenotypicFeature Orphanet:70595 biolink:Disease Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome HP:0000508 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001751 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002403 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0003200 biolink:PhenotypicFeature HP:0003434 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0006858 biolink:PhenotypicFeature HP:0007344 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0012696 biolink:PhenotypicFeature HP:0025331 biolink:PhenotypicFeature HP:0031422 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002578 biolink:PhenotypicFeature HP:0004389 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:262767 biolink:Disease Partial trisomy/tetrasomy of the short arm of chromosome 9 HP:0000316 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001837 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004474 biolink:PhenotypicFeature HP:0007560 biolink:PhenotypicFeature HP:0008386 biolink:PhenotypicFeature HP:0009748 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature Orphanet:746 biolink:Disease Mitochondrial trifunctional protein deficiency HP:0001284 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0001985 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0003756 biolink:PhenotypicFeature HP:0006555 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009063 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011808 biolink:PhenotypicFeature HP:0100626 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000829 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0008110 biolink:PhenotypicFeature HP:0008138 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0002476 biolink:PhenotypicFeature HP:0007067 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0025145 biolink:PhenotypicFeature Orphanet:399103 biolink:Disease Distal nebulin myopathy HP:0000218 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003722 biolink:PhenotypicFeature HP:0003798 biolink:PhenotypicFeature HP:0006466 biolink:PhenotypicFeature HP:0009005 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0009063 biolink:PhenotypicFeature HP:0009077 biolink:PhenotypicFeature HP:0012036 biolink:PhenotypicFeature HP:0001533 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0009073 biolink:PhenotypicFeature HP:0012548 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature Orphanet:329478 biolink:Disease Adult-onset distal myopathy due to VCP mutation HP:0002460 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001437 biolink:PhenotypicFeature HP:0002344 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0003805 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0008954 biolink:PhenotypicFeature HP:0008978 biolink:PhenotypicFeature HP:0009005 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0012548 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001349 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0002792 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature Orphanet:397744 biolink:Disease Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome HP:0000762 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0009063 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010219 biolink:PhenotypicFeature HP:0012548 biolink:PhenotypicFeature HP:0030774 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001605 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature Orphanet:399081 biolink:Disease KLHL9-related early-onset distal myopathy HP:0002936 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0006466 biolink:PhenotypicFeature HP:0009005 biolink:PhenotypicFeature HP:0009063 biolink:PhenotypicFeature HP:0001430 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0006844 biolink:PhenotypicFeature HP:0006937 biolink:PhenotypicFeature HP:0008954 biolink:PhenotypicFeature HP:0009031 biolink:PhenotypicFeature HP:0040081 biolink:PhenotypicFeature HP:0003438 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature Orphanet:399086 biolink:Disease Finnish upper limb-onset distal myopathy HP:0002312 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003805 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0008954 biolink:PhenotypicFeature HP:0009005 biolink:PhenotypicFeature HP:0009031 biolink:PhenotypicFeature HP:0009063 biolink:PhenotypicFeature HP:0009473 biolink:PhenotypicFeature HP:0012548 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0009073 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature Orphanet:488650 biolink:Disease Distal myopathy, Tateyama type HP:0003458 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0003707 biolink:PhenotypicFeature HP:0008075 biolink:PhenotypicFeature HP:0008954 biolink:PhenotypicFeature HP:0009005 biolink:PhenotypicFeature HP:0009063 biolink:PhenotypicFeature HP:0030089 biolink:PhenotypicFeature HP:0040081 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003760 biolink:PhenotypicFeature HP:0008962 biolink:PhenotypicFeature HP:0000467 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature Orphanet:178400 biolink:Disease Distal myopathy with anterior tibial onset HP:0030114 biolink:PhenotypicFeature HP:0040081 biolink:PhenotypicFeature HP:0003738 biolink:PhenotypicFeature HP:0008963 biolink:PhenotypicFeature HP:0009073 biolink:PhenotypicFeature HP:0003325 biolink:PhenotypicFeature HP:0003438 biolink:PhenotypicFeature HP:0008954 biolink:PhenotypicFeature HP:0009005 biolink:PhenotypicFeature HP:0031177 biolink:PhenotypicFeature HP:0000467 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0003805 biolink:PhenotypicFeature Orphanet:531151 biolink:Disease 9q21.13 microdeletion syndrome HP:0000028 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0012811 biolink:PhenotypicFeature HP:0030809 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0002282 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature Orphanet:496790 biolink:Disease Ocular anomalies-axonal neuropathy-developmental delay syndrome HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0007210 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003535 biolink:PhenotypicFeature HP:0005656 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature Orphanet:300570 biolink:Disease Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001338 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002334 biolink:PhenotypicFeature HP:0002365 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002474 biolink:PhenotypicFeature HP:0002497 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0007260 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0009879 biolink:PhenotypicFeature HP:0010862 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0025336 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000570 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001264 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001491 biolink:PhenotypicFeature HP:0001575 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature HP:0002343 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002943 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0007048 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0010663 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0012434 biolink:PhenotypicFeature HP:0012697 biolink:PhenotypicFeature HP:0025101 biolink:PhenotypicFeature HP:0030302 biolink:PhenotypicFeature HP:0030534 biolink:PhenotypicFeature HP:0030903 biolink:PhenotypicFeature HP:0040168 biolink:PhenotypicFeature HP:0040326 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:280633 biolink:Disease Multiple congenital anomalies-hypotonia-seizures syndrome HP:0000639 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0006829 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001615 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0004488 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010291 biolink:PhenotypicFeature HP:0011247 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000034 biolink:PhenotypicFeature HP:0000072 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000350 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000498 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000932 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001667 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002025 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002100 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002265 biolink:PhenotypicFeature HP:0002286 biolink:PhenotypicFeature HP:0002305 biolink:PhenotypicFeature HP:0002616 biolink:PhenotypicFeature HP:0002951 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0004681 biolink:PhenotypicFeature HP:0004742 biolink:PhenotypicFeature HP:0004969 biolink:PhenotypicFeature HP:0005830 biolink:PhenotypicFeature HP:0006165 biolink:PhenotypicFeature HP:0006254 biolink:PhenotypicFeature HP:0007441 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008635 biolink:PhenotypicFeature HP:0008676 biolink:PhenotypicFeature HP:0008718 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0010282 biolink:PhenotypicFeature HP:0010544 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0010880 biolink:PhenotypicFeature HP:0011271 biolink:PhenotypicFeature HP:0011333 biolink:PhenotypicFeature HP:0025025 biolink:PhenotypicFeature Orphanet:69085 biolink:Disease Limb-mammary syndrome HP:0000564 biolink:PhenotypicFeature HP:0001092 biolink:PhenotypicFeature HP:0002557 biolink:PhenotypicFeature HP:0002561 biolink:PhenotypicFeature HP:0012814 biolink:PhenotypicFeature HP:0100783 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000498 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0007717 biolink:PhenotypicFeature HP:0011819 biolink:PhenotypicFeature HP:0011939 biolink:PhenotypicFeature HP:0012165 biolink:PhenotypicFeature HP:0410005 biolink:PhenotypicFeature HP:0410030 biolink:PhenotypicFeature HP:0000151 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0001480 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0003765 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0010463 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature Orphanet:442835 biolink:Disease Non-specific early-onset epileptic encephalopathy HP:0001298 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0010844 biolink:PhenotypicFeature HP:0011443 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0012447 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000546 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0012547 biolink:PhenotypicFeature Orphanet:447757 biolink:Disease Autosomal dominant spastic paraplegia type 9B HP:0002064 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002344 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0002505 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007083 biolink:PhenotypicFeature HP:0007178 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0007350 biolink:PhenotypicFeature HP:0008075 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003438 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0004373 biolink:PhenotypicFeature HP:0006827 biolink:PhenotypicFeature Orphanet:254857 biolink:Disease Lethal infantile mitochondrial myopathy HP:0000083 biolink:PhenotypicFeature HP:0000590 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0004900 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0006583 biolink:PhenotypicFeature HP:0008935 biolink:PhenotypicFeature Orphanet:2596 biolink:Disease Myopathy and diabetes mellitus HP:0003756 biolink:PhenotypicFeature HP:0007126 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0003547 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0009073 biolink:PhenotypicFeature HP:0012391 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0003749 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0012036 biolink:PhenotypicFeature HP:0012507 biolink:PhenotypicFeature HP:0030051 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001771 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0031258 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature Orphanet:2332 biolink:Disease KBG syndrome HP:0000343 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0000891 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001566 biolink:PhenotypicFeature HP:0001572 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002942 biolink:PhenotypicFeature HP:0002948 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008513 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012725 biolink:PhenotypicFeature HP:0040019 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0004474 biolink:PhenotypicFeature HP:0045017 biolink:PhenotypicFeature Orphanet:2209 biolink:Disease Maternal phenylketonuria HP:0001627 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001719 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0002032 biolink:PhenotypicFeature HP:0002836 biolink:PhenotypicFeature HP:0004411 biolink:PhenotypicFeature HP:0008589 biolink:PhenotypicFeature HP:0009611 biolink:PhenotypicFeature HP:0012210 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature Orphanet:98907 biolink:Disease Neutral lipid storage disease with ichthyosis HP:0012240 biolink:PhenotypicFeature HP:0012472 biolink:PhenotypicFeature HP:0040081 biolink:PhenotypicFeature HP:0001413 biolink:PhenotypicFeature HP:0007009 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001946 biolink:PhenotypicFeature HP:0007479 biolink:PhenotypicFeature HP:0009073 biolink:PhenotypicFeature HP:0000385 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000523 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001911 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003547 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:329314 biolink:Disease Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency HP:0000590 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0003325 biolink:PhenotypicFeature HP:0003390 biolink:PhenotypicFeature HP:0003797 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0008615 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003558 biolink:PhenotypicFeature HP:0003749 biolink:PhenotypicFeature HP:0025406 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:254854 biolink:Disease Pure mitochondrial myopathy HP:0003546 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002600 biolink:PhenotypicFeature HP:0003391 biolink:PhenotypicFeature HP:0003547 biolink:PhenotypicFeature HP:0003722 biolink:PhenotypicFeature HP:0003749 biolink:PhenotypicFeature HP:0007126 biolink:PhenotypicFeature HP:0009020 biolink:PhenotypicFeature HP:0030199 biolink:PhenotypicFeature HP:0000590 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003327 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003731 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature HP:0030192 biolink:PhenotypicFeature HP:0030195 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0003652 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature Orphanet:329336 biolink:Disease Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy HP:0000590 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0003690 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002522 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0003738 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0030196 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002361 biolink:PhenotypicFeature HP:0002406 biolink:PhenotypicFeature HP:0002549 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003133 biolink:PhenotypicFeature HP:0003722 biolink:PhenotypicFeature HP:0005150 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature Orphanet:25968 biolink:Disease Benign occipital epilepsy HP:0002384 biolink:PhenotypicFeature HP:0012011 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002367 biolink:PhenotypicFeature HP:0025518 biolink:PhenotypicFeature Orphanet:73267 biolink:Disease Non-24-hour sleep-wake syndrome HP:0000618 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0002189 biolink:PhenotypicFeature HP:0012689 biolink:PhenotypicFeature HP:0025406 biolink:PhenotypicFeature Orphanet:79096 biolink:Disease Pyridoxal phosphate-responsive seizures HP:0002133 biolink:PhenotypicFeature HP:0200134 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001560 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0003785 biolink:PhenotypicFeature HP:0005961 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0010851 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0025430 biolink:PhenotypicFeature HP:0030917 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0005522 biolink:PhenotypicFeature HP:0010895 biolink:PhenotypicFeature HP:0010900 biolink:PhenotypicFeature HP:0010904 biolink:PhenotypicFeature HP:0010909 biolink:PhenotypicFeature HP:0010917 biolink:PhenotypicFeature Orphanet:79155 biolink:Disease Hydroxykynureninuria HP:0001298 biolink:PhenotypicFeature HP:0004365 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0001947 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0005957 biolink:PhenotypicFeature HP:0008527 biolink:PhenotypicFeature HP:0010280 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0002448 biolink:PhenotypicFeature Orphanet:231445 biolink:Disease Paraparetic variant of Guillain-Barré syndrome HP:0001284 biolink:PhenotypicFeature HP:0002385 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0006858 biolink:PhenotypicFeature HP:0011868 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0025459 biolink:PhenotypicFeature HP:0011096 biolink:PhenotypicFeature HP:0011948 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature Orphanet:221091 biolink:Disease Trigeminal neuralgia HP:0100661 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0012199 biolink:PhenotypicFeature HP:0012533 biolink:PhenotypicFeature HP:0000183 biolink:PhenotypicFeature HP:0000740 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0004948 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0200025 biolink:PhenotypicFeature HP:0001293 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0007305 biolink:PhenotypicFeature HP:0011096 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature Orphanet:83452 biolink:Disease Complex regional pain syndrome HP:0009763 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0008383 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0010742 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0010834 biolink:PhenotypicFeature HP:0012533 biolink:PhenotypicFeature HP:0031005 biolink:PhenotypicFeature HP:0040170 biolink:PhenotypicFeature Orphanet:391474 biolink:Disease Frontorhiny HP:0000175 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000349 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002738 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0004112 biolink:PhenotypicFeature HP:0004423 biolink:PhenotypicFeature HP:0006931 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0008591 biolink:PhenotypicFeature HP:0010297 biolink:PhenotypicFeature HP:0011817 biolink:PhenotypicFeature HP:0025247 biolink:PhenotypicFeature HP:0040019 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0040075 biolink:PhenotypicFeature Orphanet:398156 biolink:Disease Oculoauriculofrontonasal syndrome HP:0000316 biolink:PhenotypicFeature HP:0000456 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000289 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000636 biolink:PhenotypicFeature HP:0001140 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0006931 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0010609 biolink:PhenotypicFeature HP:0410030 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature Orphanet:1521 biolink:Disease Craniofrontonasal dysplasia-Poland anomaly syndrome HP:0000316 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0004112 biolink:PhenotypicFeature HP:0009116 biolink:PhenotypicFeature HP:0000136 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000200 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001464 biolink:PhenotypicFeature HP:0001540 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0006008 biolink:PhenotypicFeature HP:0006709 biolink:PhenotypicFeature HP:0009930 biolink:PhenotypicFeature HP:0011959 biolink:PhenotypicFeature HP:0012243 biolink:PhenotypicFeature HP:0030867 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature Orphanet:306542 biolink:Disease Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome HP:0000625 biolink:PhenotypicFeature HP:0000653 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0002006 biolink:PhenotypicFeature HP:0005258 biolink:PhenotypicFeature HP:0005466 biolink:PhenotypicFeature HP:0009119 biolink:PhenotypicFeature HP:0011803 biolink:PhenotypicFeature HP:0040019 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0004423 biolink:PhenotypicFeature HP:0006931 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000349 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature Orphanet:396 biolink:Disease Chronic hiccup HP:0100247 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000775 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0004395 biolink:PhenotypicFeature HP:0100738 biolink:PhenotypicFeature Orphanet:639 biolink:Disease Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG HP:0002166 biolink:PhenotypicFeature HP:0007133 biolink:PhenotypicFeature HP:0011402 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0005508 biolink:PhenotypicFeature HP:0007220 biolink:PhenotypicFeature HP:0100287 biolink:PhenotypicFeature HP:0006865 biolink:PhenotypicFeature Orphanet:488437 biolink:Disease SIX2-related frontonasal dysplasia HP:0000348 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000537 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005453 biolink:PhenotypicFeature HP:0009119 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0002693 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005494 biolink:PhenotypicFeature HP:0010291 biolink:PhenotypicFeature HP:0011330 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature Orphanet:369847 biolink:Disease Intellectual disability-hyperkinetic movement-truncal ataxia syndrome HP:0000518 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0006785 biolink:PhenotypicFeature HP:0009020 biolink:PhenotypicFeature HP:0009073 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0005133 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature Orphanet:140989 biolink:Disease Primary angiitis of the central nervous system HP:0005318 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0007052 biolink:PhenotypicFeature HP:0007236 biolink:PhenotypicFeature HP:0012229 biolink:PhenotypicFeature HP:0025456 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0002385 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0010534 biolink:PhenotypicFeature HP:0030588 biolink:PhenotypicFeature HP:0000538 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0025142 biolink:PhenotypicFeature HP:0100576 biolink:PhenotypicFeature Orphanet:99657 biolink:Disease Primary dystonia, DYT2 type HP:0001304 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0000643 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0007325 biolink:PhenotypicFeature Orphanet:71517 biolink:Disease Rapid-onset dystonia-parkinsonism HP:0000338 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0012179 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature Orphanet:513436 biolink:Disease Autosomal recessive spastic paraplegia type 78 HP:0000738 biolink:PhenotypicFeature HP:0007153 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0003482 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0000605 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002478 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0003390 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0008075 biolink:PhenotypicFeature HP:0000317 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature Orphanet:94124 biolink:Disease Spinocerebellar ataxia with axonal neuropathy type 1 HP:0000640 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0002503 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature HP:0006858 biolink:PhenotypicFeature HP:0007021 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:275872 biolink:Disease Frontotemporal dementia with motor neuron disease HP:0002127 biolink:PhenotypicFeature HP:0002145 biolink:PhenotypicFeature HP:0002366 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002171 biolink:PhenotypicFeature HP:0002186 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0002314 biolink:PhenotypicFeature HP:0002385 biolink:PhenotypicFeature HP:0002442 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0003700 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0007190 biolink:PhenotypicFeature HP:0010549 biolink:PhenotypicFeature HP:0000605 biolink:PhenotypicFeature HP:0000734 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001283 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0008322 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0030223 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature Orphanet:168782 biolink:Disease Childhood disintegrative disorder HP:0002333 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0007064 biolink:PhenotypicFeature HP:0100851 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0007086 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature Orphanet:137754 biolink:Disease Neurological conditions associated with aminoacylase 1 deficiency HP:0001252 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0006817 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature Orphanet:98916 biolink:Disease Acute inflammatory demyelinating polyradiculoneuropathy HP:0007131 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001954 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0003445 biolink:PhenotypicFeature HP:0005335 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0012534 biolink:PhenotypicFeature HP:0031162 biolink:PhenotypicFeature HP:0003383 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature Orphanet:208981 biolink:Disease Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies HP:0003445 biolink:PhenotypicFeature HP:0006873 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0011402 biolink:PhenotypicFeature HP:0012514 biolink:PhenotypicFeature HP:0031006 biolink:PhenotypicFeature HP:0007220 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature Orphanet:209004 biolink:Disease Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy HP:0007002 biolink:PhenotypicFeature HP:0007267 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0003390 biolink:PhenotypicFeature HP:0005508 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0012514 biolink:PhenotypicFeature HP:0031006 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0006775 biolink:PhenotypicFeature HP:0025346 biolink:PhenotypicFeature HP:0100778 biolink:PhenotypicFeature Orphanet:447753 biolink:Disease Autosomal dominant spastic paraplegia type 9A HP:0100515 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0007350 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0006895 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0010832 biolink:PhenotypicFeature HP:0000012 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002280 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002425 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003419 biolink:PhenotypicFeature HP:0007371 biolink:PhenotypicFeature HP:0011397 biolink:PhenotypicFeature HP:0012514 biolink:PhenotypicFeature Orphanet:171442 biolink:Disease Adult-onset nemaline myopathy HP:0003198 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003798 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0003722 biolink:PhenotypicFeature HP:0003803 biolink:PhenotypicFeature HP:0009058 biolink:PhenotypicFeature HP:0031047 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0002068 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002483 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0002792 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0010546 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature Orphanet:171439 biolink:Disease Childhood-onset nemaline myopathy HP:0001284 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001349 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001533 biolink:PhenotypicFeature HP:0001623 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001989 biolink:PhenotypicFeature HP:0002483 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0002792 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0030192 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003798 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002068 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0003690 biolink:PhenotypicFeature HP:0003803 biolink:PhenotypicFeature HP:0009055 biolink:PhenotypicFeature HP:0009058 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000467 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature Orphanet:464440 biolink:Disease Primary dystonia, DYT27 type HP:0012048 biolink:PhenotypicFeature HP:0012049 biolink:PhenotypicFeature HP:0002345 biolink:PhenotypicFeature HP:0002356 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0002530 biolink:PhenotypicFeature HP:0004373 biolink:PhenotypicFeature HP:0007351 biolink:PhenotypicFeature Orphanet:420492 biolink:Disease Adult-onset cervical dystonia, DYT23 type HP:0000473 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002346 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002356 biolink:PhenotypicFeature HP:0002530 biolink:PhenotypicFeature HP:0004373 biolink:PhenotypicFeature HP:0012179 biolink:PhenotypicFeature HP:0012893 biolink:PhenotypicFeature HP:0200085 biolink:PhenotypicFeature HP:0002883 biolink:PhenotypicFeature HP:0005115 biolink:PhenotypicFeature HP:0025269 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature Orphanet:370103 biolink:Disease Primary dystonia, DYT17 type HP:0001260 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0007325 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0012179 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature Orphanet:210571 biolink:Disease Dystonia 16 HP:0002451 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002310 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0012514 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:401795 biolink:Disease Autosomal recessive spastic paraplegia type 59 HP:0001258 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature Orphanet:401800 biolink:Disease Autosomal recessive spastic paraplegia type 60 HP:0000639 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0007002 biolink:PhenotypicFeature Orphanet:401815 biolink:Disease Autosomal recessive spastic paraplegia type 66 HP:0001249 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001301 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0007210 biolink:PhenotypicFeature HP:0030048 biolink:PhenotypicFeature Orphanet:401820 biolink:Disease Autosomal recessive spastic paraplegia type 67 HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0003700 biolink:PhenotypicFeature HP:0006817 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0012447 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0200085 biolink:PhenotypicFeature Orphanet:494526 biolink:Disease Infantile-onset generalized dyskinesia with orofacial involvement HP:0002310 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0100248 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature Orphanet:477673 biolink:Disease Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0000252 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0006829 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0011400 biolink:PhenotypicFeature Orphanet:464282 biolink:Disease Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0025313 biolink:PhenotypicFeature HP:0031087 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008373 biolink:PhenotypicFeature HP:0010219 biolink:PhenotypicFeature HP:0011166 biolink:PhenotypicFeature HP:0011401 biolink:PhenotypicFeature HP:0012762 biolink:PhenotypicFeature HP:0001437 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature Orphanet:401901 biolink:Disease Huntington disease-like syndrome due to C9ORF72 expansions HP:0000719 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature Orphanet:320360 biolink:Disease MT-ATP6-related mitochondrial spastic paraplegia HP:0002166 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0012514 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0005115 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0008969 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature Orphanet:352596 biolink:Disease Progressive myoclonic epilepsy with dystonia HP:0001332 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001326 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002188 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0008935 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0200134 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002189 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0002506 biolink:PhenotypicFeature HP:0025152 biolink:PhenotypicFeature HP:0100275 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature Orphanet:468661 biolink:Disease Autosomal recessive spastic paraplegia type 74 HP:0003477 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003445 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0007067 biolink:PhenotypicFeature HP:0007083 biolink:PhenotypicFeature HP:0008314 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0009072 biolink:PhenotypicFeature HP:0011923 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0012762 biolink:PhenotypicFeature Orphanet:276241 biolink:Disease Machado-Joseph disease type 2 HP:0000590 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000623 biolink:PhenotypicFeature HP:0000640 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002198 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0002503 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007089 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011960 biolink:PhenotypicFeature HP:0040140 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0001605 biolink:PhenotypicFeature HP:0001751 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0004370 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature Orphanet:276238 biolink:Disease Machado-Joseph disease type 1 HP:0000590 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000623 biolink:PhenotypicFeature HP:0000640 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002198 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002503 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007089 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0011960 biolink:PhenotypicFeature HP:0040140 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0001605 biolink:PhenotypicFeature HP:0001751 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0004370 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature Orphanet:276183 biolink:Disease Spinocerebellar ataxia type 32 HP:0000027 biolink:PhenotypicFeature HP:0000029 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0003251 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:276244 biolink:Disease Machado-Joseph disease type 3 HP:0003487 biolink:PhenotypicFeature HP:0007089 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0011960 biolink:PhenotypicFeature HP:0040140 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0001605 biolink:PhenotypicFeature HP:0001751 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0004370 biolink:PhenotypicFeature HP:0000590 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000623 biolink:PhenotypicFeature HP:0000640 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002198 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002366 biolink:PhenotypicFeature HP:0002398 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0002503 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature Orphanet:137888 biolink:Disease Auriculocondylar syndrome HP:0007628 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0009902 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000162 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000183 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0008772 biolink:PhenotypicFeature HP:0009895 biolink:PhenotypicFeature HP:0010754 biolink:PhenotypicFeature HP:0025267 biolink:PhenotypicFeature HP:0030022 biolink:PhenotypicFeature HP:0100277 biolink:PhenotypicFeature HP:0000171 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0007627 biolink:PhenotypicFeature HP:0011802 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0030713 biolink:PhenotypicFeature Orphanet:512260 biolink:Disease Congenital cerebellar ataxia due to RNU12 mutation HP:0001260 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0012759 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature Orphanet:521308 biolink:Disease Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome HP:0000219 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000456 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0007874 biolink:PhenotypicFeature HP:0010939 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0007330 biolink:PhenotypicFeature HP:0008115 biolink:PhenotypicFeature HP:0012165 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:401830 biolink:Disease Autosomal recessive spastic paraplegia type 69 HP:0000365 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0006817 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0012447 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:401840 biolink:Disease Autosomal recessive spastic paraplegia type 71 HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012447 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature Orphanet:401835 biolink:Disease Autosomal recessive spastic paraplegia type 70 HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012447 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature Orphanet:280763 biolink:Disease Severe intellectual disability and progressive spastic paraplegia HP:0000252 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000297 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0010803 biolink:PhenotypicFeature HP:0025502 biolink:PhenotypicFeature HP:0100962 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0002761 biolink:PhenotypicFeature HP:0002816 biolink:PhenotypicFeature HP:0008807 biolink:PhenotypicFeature Orphanet:352641 biolink:Disease Autosomal recessive cerebellar ataxia with late-onset spasticity HP:0001257 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0000570 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002346 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0004905 biolink:PhenotypicFeature HP:0100513 biolink:PhenotypicFeature Orphanet:157946 biolink:Disease Huntington disease-like 3 HP:0000020 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002340 biolink:PhenotypicFeature HP:0002361 biolink:PhenotypicFeature HP:0002457 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0005327 biolink:PhenotypicFeature HP:0007076 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007308 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:391417 biolink:Disease HSD10 disease HP:0012073 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0040155 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0004925 biolink:PhenotypicFeature HP:0006892 biolink:PhenotypicFeature HP:0007042 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0007030 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature Orphanet:397933 biolink:Disease Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome HP:0000253 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012171 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0030215 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:324410 biolink:Disease X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome HP:0000396 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0005781 biolink:PhenotypicFeature HP:0006705 biolink:PhenotypicFeature HP:0000053 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0004749 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0010808 biolink:PhenotypicFeature Orphanet:364028 biolink:Disease X-linked intellectual disability due to GRIA3 mutations HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001533 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000188 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000297 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000675 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000742 biolink:PhenotypicFeature HP:0000817 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002816 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006863 biolink:PhenotypicFeature HP:0006951 biolink:PhenotypicFeature HP:0006979 biolink:PhenotypicFeature HP:0007021 biolink:PhenotypicFeature HP:0007655 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0009909 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0030236 biolink:PhenotypicFeature Orphanet:466791 biolink:Disease Macrocephaly-intellectual disability-left ventricular non compaction syndrome HP:0000750 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001533 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0001711 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001667 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0002684 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004684 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0007024 biolink:PhenotypicFeature HP:0007083 biolink:PhenotypicFeature HP:0007099 biolink:PhenotypicFeature HP:0007449 biolink:PhenotypicFeature HP:0008689 biolink:PhenotypicFeature HP:0010316 biolink:PhenotypicFeature HP:0010627 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0030872 biolink:PhenotypicFeature HP:0032009 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0006989 biolink:PhenotypicFeature HP:0009703 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100962 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature Orphanet:480880 biolink:Disease X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability HP:0001263 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002536 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007483 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0100259 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000454 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000692 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001238 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002198 biolink:PhenotypicFeature HP:0002212 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002365 biolink:PhenotypicFeature HP:0002557 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002944 biolink:PhenotypicFeature HP:0004095 biolink:PhenotypicFeature HP:0004298 biolink:PhenotypicFeature HP:0005272 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005722 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0010499 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0012810 biolink:PhenotypicFeature HP:0030925 biolink:PhenotypicFeature HP:0030928 biolink:PhenotypicFeature HP:0031508 biolink:PhenotypicFeature HP:0100890 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0200117 biolink:PhenotypicFeature HP:0410026 biolink:PhenotypicFeature Orphanet:456328 biolink:Disease X-linked myotubular myopathy-abnormal genitalia syndrome HP:0001290 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000807 biolink:PhenotypicFeature HP:0000808 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0003244 biolink:PhenotypicFeature HP:0040314 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000883 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature Orphanet:457240 biolink:Disease X-linked intellectual disability-short stature-overweight syndrome HP:0000218 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0025502 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000742 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002171 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0004437 biolink:PhenotypicFeature HP:0006986 biolink:PhenotypicFeature HP:0007033 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:166035 biolink:Disease Brachydactyly-short stature-retinitis pigmentosa syndrome HP:0000546 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000561 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002223 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0005345 biolink:PhenotypicFeature HP:0005871 biolink:PhenotypicFeature HP:0007099 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010761 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0030455 biolink:PhenotypicFeature Orphanet:168577 biolink:Disease Hereditary cryohydrocytosis with reduced stomatin HP:0000518 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0003575 biolink:PhenotypicFeature HP:0004446 biolink:PhenotypicFeature HP:0005525 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011972 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000475 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001334 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002908 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007229 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0010920 biolink:PhenotypicFeature HP:0012430 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012695 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:480907 biolink:Disease X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000369 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0006863 biolink:PhenotypicFeature HP:0008468 biolink:PhenotypicFeature HP:0008472 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0200136 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001264 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0012032 biolink:PhenotypicFeature Orphanet:485350 biolink:Disease CLCN4-related X-linked intellectual disability syndrome HP:0001263 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0006970 biolink:PhenotypicFeature HP:0007302 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011167 biolink:PhenotypicFeature HP:0011193 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0006986 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:382 biolink:Disease Guanidinoacetate methyltransferase deficiency HP:0001250 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0007153 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002305 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002457 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature Orphanet:137898 biolink:Disease Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome HP:0011397 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002191 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0002497 biolink:PhenotypicFeature HP:0002505 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0006978 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0006858 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0008969 biolink:PhenotypicFeature HP:0010794 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000514 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001271 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0005340 biolink:PhenotypicFeature HP:0007668 biolink:PhenotypicFeature HP:0009055 biolink:PhenotypicFeature Orphanet:171703 biolink:Disease Microcephaly-polymicrogyria-corpus callosum agenesis syndrome HP:0001274 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature Orphanet:98890 biolink:Disease Early-onset X-linked optic atrophy HP:0000529 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000551 biolink:PhenotypicFeature HP:0000603 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0012164 biolink:PhenotypicFeature HP:0012638 biolink:PhenotypicFeature Orphanet:94083 biolink:Disease Partington syndrome HP:0000325 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0000053 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0007380 biolink:PhenotypicFeature Orphanet:85326 biolink:Disease X-linked intellectual disability, Stoll type HP:0000272 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000349 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002003 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005281 biolink:PhenotypicFeature Orphanet:85323 biolink:Disease X-linked intellectual disability, Seemanova type HP:0000028 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0002191 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0009004 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature Orphanet:163979 biolink:Disease X-linked intellectual disability-craniofacioskeletal syndrome HP:0000219 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001863 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009237 biolink:PhenotypicFeature HP:0011833 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001187 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001782 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002682 biolink:PhenotypicFeature HP:0002777 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0005306 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0008386 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0010511 biolink:PhenotypicFeature HP:0011467 biolink:PhenotypicFeature HP:0011611 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature Orphanet:163961 biolink:Disease X-linked cerebral-cerebellar-coloboma syndrome HP:0000238 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0002538 biolink:PhenotypicFeature HP:0002876 biolink:PhenotypicFeature HP:0005949 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002245 biolink:PhenotypicFeature HP:0002335 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005815 biolink:PhenotypicFeature HP:0007738 biolink:PhenotypicFeature HP:0007965 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature Orphanet:163956 biolink:Disease X-linked intellectual disability, Nascimento type HP:0000154 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0009765 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000475 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002230 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003265 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007103 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001718 biolink:PhenotypicFeature HP:0001719 biolink:PhenotypicFeature HP:0001776 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0004969 biolink:PhenotypicFeature HP:0005345 biolink:PhenotypicFeature HP:0007509 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0010721 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0011913 biolink:PhenotypicFeature HP:0012110 biolink:PhenotypicFeature HP:0030311 biolink:PhenotypicFeature HP:0100760 biolink:PhenotypicFeature HP:0100838 biolink:PhenotypicFeature HP:0410018 biolink:PhenotypicFeature Orphanet:163721 biolink:Disease Rolandic epilepsy-speech dyspraxia syndrome HP:0000750 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0007334 biolink:PhenotypicFeature HP:0011196 biolink:PhenotypicFeature HP:0011198 biolink:PhenotypicFeature HP:0031491 biolink:PhenotypicFeature HP:0040168 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002546 biolink:PhenotypicFeature HP:0010300 biolink:PhenotypicFeature HP:0031434 biolink:PhenotypicFeature Orphanet:423479 biolink:Disease X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome HP:0008058 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012736 biolink:PhenotypicFeature HP:0030211 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0010536 biolink:PhenotypicFeature HP:0030921 biolink:PhenotypicFeature HP:0030927 biolink:PhenotypicFeature HP:0011903 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0001116 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001525 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004639 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0007965 biolink:PhenotypicFeature Orphanet:79233 biolink:Disease Hypoxanthine guanine phosphoribosyltransferase partial deficiency HP:0000112 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0012611 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000791 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0001997 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0012587 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature HP:0000742 biolink:PhenotypicFeature Orphanet:166063 biolink:Disease Pontocerebellar hypoplasia type 4 HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002365 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0002871 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0006955 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:168572 biolink:Disease Native American myopathy HP:0001324 biolink:PhenotypicFeature HP:0002058 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002047 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002803 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008458 biolink:PhenotypicFeature HP:0010674 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012084 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0011819 biolink:PhenotypicFeature HP:0100295 biolink:PhenotypicFeature HP:0000329 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature Orphanet:319514 biolink:Disease Combined oxidative phosphorylation defect type 13 HP:0001511 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature HP:0002310 biolink:PhenotypicFeature HP:0003273 biolink:PhenotypicFeature HP:0003548 biolink:PhenotypicFeature HP:0003554 biolink:PhenotypicFeature HP:0003803 biolink:PhenotypicFeature HP:0006466 biolink:PhenotypicFeature HP:0006895 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0040204 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0200125 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0007069 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0010994 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature Orphanet:363686 biolink:Disease Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome HP:0000154 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000273 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000484 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000629 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000742 biolink:PhenotypicFeature HP:0000744 biolink:PhenotypicFeature HP:0000748 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001566 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002546 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008770 biolink:PhenotypicFeature HP:0009836 biolink:PhenotypicFeature HP:0010511 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0045025 biolink:PhenotypicFeature HP:0100033 biolink:PhenotypicFeature Orphanet:352577 biolink:Disease Bainbridge-Ropers syndrome HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003189 biolink:PhenotypicFeature HP:0004673 biolink:PhenotypicFeature HP:0009765 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0100023 biolink:PhenotypicFeature Orphanet:404440 biolink:Disease Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0005105 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000190 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001830 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0009836 biolink:PhenotypicFeature HP:0010663 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012377 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0012718 biolink:PhenotypicFeature HP:0100259 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature Orphanet:356961 biolink:Disease SLC35A2-CDG HP:0000707 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002715 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012345 biolink:PhenotypicFeature HP:0012348 biolink:PhenotypicFeature HP:0012363 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0025053 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0045060 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002686 biolink:PhenotypicFeature HP:0003121 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0007366 biolink:PhenotypicFeature HP:0007704 biolink:PhenotypicFeature HP:0011185 biolink:PhenotypicFeature HP:0011314 biolink:PhenotypicFeature HP:0012762 biolink:PhenotypicFeature HP:0012803 biolink:PhenotypicFeature HP:0200012 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002418 biolink:PhenotypicFeature HP:0002539 biolink:PhenotypicFeature HP:0002925 biolink:PhenotypicFeature HP:0005736 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0008695 biolink:PhenotypicFeature HP:0012210 biolink:PhenotypicFeature HP:0025484 biolink:PhenotypicFeature HP:0025517 biolink:PhenotypicFeature HP:0030043 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature Orphanet:42 biolink:Disease Medium chain acyl-CoA dehydrogenase deficiency HP:0001252 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003215 biolink:PhenotypicFeature HP:0003473 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0003738 biolink:PhenotypicFeature HP:0011936 biolink:PhenotypicFeature HP:0030199 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001946 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0005684 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0040155 biolink:PhenotypicFeature HP:0045040 biolink:PhenotypicFeature Orphanet:268 biolink:Disease Dysferlin-related limb-girdle muscular dystrophy R2 HP:0003236 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001667 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0003115 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0003722 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0011712 biolink:PhenotypicFeature HP:0012664 biolink:PhenotypicFeature HP:0100748 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002996 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0005085 biolink:PhenotypicFeature HP:0008800 biolink:PhenotypicFeature HP:0008959 biolink:PhenotypicFeature HP:0030051 biolink:PhenotypicFeature HP:0045054 biolink:PhenotypicFeature HP:0100515 biolink:PhenotypicFeature Orphanet:26793 biolink:Disease Very long chain acyl-CoA dehydrogenase deficiency HP:0030781 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001985 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002876 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0009045 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0025502 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001545 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0001663 biolink:PhenotypicFeature HP:0001678 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002280 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0003075 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0004756 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature Orphanet:66627 biolink:Disease Tenosynovial giant cell tumor HP:0002829 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0000372 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0001003 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001384 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003028 biolink:PhenotypicFeature HP:0003043 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0009911 biolink:PhenotypicFeature HP:0031520 biolink:PhenotypicFeature HP:0040090 biolink:PhenotypicFeature HP:0000934 biolink:PhenotypicFeature HP:0005186 biolink:PhenotypicFeature HP:0005195 biolink:PhenotypicFeature HP:0040161 biolink:PhenotypicFeature Orphanet:2828 biolink:Disease Young-onset Parkinson disease HP:0002063 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0000551 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002578 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0004409 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0012452 biolink:PhenotypicFeature HP:0025269 biolink:PhenotypicFeature HP:0030014 biolink:PhenotypicFeature HP:0040307 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000727 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature Orphanet:85285 biolink:Disease X-linked intellectual disability, Schimke type HP:0000365 biolink:PhenotypicFeature HP:0000544 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003273 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006466 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature Orphanet:85288 biolink:Disease X-linked intellectual disability, Stocco Dos Santos type HP:0001007 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008780 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0003144 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature Orphanet:85290 biolink:Disease X-linked intellectual disability, Wilson type HP:0000154 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000321 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0010814 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000034 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature Orphanet:496641 biolink:Disease Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome HP:0001257 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002191 biolink:PhenotypicFeature HP:0002445 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0006808 biolink:PhenotypicFeature HP:0007179 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0003084 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0002524 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0007002 biolink:PhenotypicFeature Orphanet:476126 biolink:Disease Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000706 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000742 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001674 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007970 biolink:PhenotypicFeature HP:0009659 biolink:PhenotypicFeature HP:0010035 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0011908 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0200006 biolink:PhenotypicFeature Orphanet:404454 biolink:Disease Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0002059 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0000633 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003563 biolink:PhenotypicFeature HP:0003785 biolink:PhenotypicFeature HP:0012153 biolink:PhenotypicFeature HP:0012447 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0025455 biolink:PhenotypicFeature HP:0025457 biolink:PhenotypicFeature HP:0025458 biolink:PhenotypicFeature HP:0040209 biolink:PhenotypicFeature HP:0000297 biolink:PhenotypicFeature HP:0000559 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001413 biolink:PhenotypicFeature HP:0001414 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001771 biolink:PhenotypicFeature HP:0001929 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002171 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002305 biolink:PhenotypicFeature HP:0002345 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002909 biolink:PhenotypicFeature HP:0003086 biolink:PhenotypicFeature HP:0003121 biolink:PhenotypicFeature HP:0003447 biolink:PhenotypicFeature HP:0003834 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0005543 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0010821 biolink:PhenotypicFeature HP:0011167 biolink:PhenotypicFeature HP:0011900 biolink:PhenotypicFeature HP:0011954 biolink:PhenotypicFeature HP:0012201 biolink:PhenotypicFeature HP:0012340 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0020037 biolink:PhenotypicFeature HP:0025336 biolink:PhenotypicFeature HP:0025401 biolink:PhenotypicFeature HP:0030194 biolink:PhenotypicFeature HP:0030906 biolink:PhenotypicFeature HP:0031008 biolink:PhenotypicFeature HP:0031051 biolink:PhenotypicFeature HP:0031146 biolink:PhenotypicFeature HP:0031162 biolink:PhenotypicFeature HP:0100899 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000548 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0011496 biolink:PhenotypicFeature HP:0030001 biolink:PhenotypicFeature Orphanet:404448 biolink:Disease ADNP syndrome HP:0000020 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0200136 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001780 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0002835 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0006288 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007042 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009890 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0200006 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001118 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008935 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature Orphanet:101016 biolink:Disease Romano-Ward syndrome HP:0005184 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001688 biolink:PhenotypicFeature HP:0005135 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0001664 biolink:PhenotypicFeature HP:0004308 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0500018 biolink:PhenotypicFeature HP:0001197 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature Orphanet:2886 biolink:Disease TARP syndrome HP:0000201 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0005301 biolink:PhenotypicFeature HP:0000162 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000385 biolink:PhenotypicFeature HP:0000395 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001978 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004492 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006434 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0000199 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000879 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002246 biolink:PhenotypicFeature HP:0009085 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature HP:0011445 biolink:PhenotypicFeature HP:0100259 biolink:PhenotypicFeature Orphanet:404443 biolink:Disease Tatton-Brown-Rahman syndrome HP:0000256 biolink:PhenotypicFeature HP:0011407 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001566 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0008094 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0045025 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0002000 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002616 biolink:PhenotypicFeature HP:0003508 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0007302 biolink:PhenotypicFeature HP:0011688 biolink:PhenotypicFeature HP:0012324 biolink:PhenotypicFeature HP:0100634 biolink:PhenotypicFeature Orphanet:289596 biolink:Disease Juvenile nasopharyngeal angiofibroma HP:0030429 biolink:PhenotypicFeature HP:0000282 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001742 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0012198 biolink:PhenotypicFeature Orphanet:420179 biolink:Disease Malan overgrowth syndrome HP:0005616 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000300 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0003100 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002131 biolink:PhenotypicFeature HP:0002365 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0007766 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0030799 biolink:PhenotypicFeature Orphanet:166108 biolink:Disease Intellectual disability, Birk-Barel type HP:0000194 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000289 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000338 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0011081 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0030197 biolink:PhenotypicFeature HP:0030200 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001308 biolink:PhenotypicFeature HP:0005060 biolink:PhenotypicFeature HP:0005879 biolink:PhenotypicFeature HP:0007002 biolink:PhenotypicFeature HP:0007269 biolink:PhenotypicFeature HP:0008366 biolink:PhenotypicFeature Orphanet:284339 biolink:Disease Pontocerebellar hypoplasia type 7 HP:0000028 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000215 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0002060 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002365 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0006955 biolink:PhenotypicFeature HP:0030197 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000133 biolink:PhenotypicFeature HP:0000151 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008665 biolink:PhenotypicFeature HP:0012856 biolink:PhenotypicFeature HP:0030260 biolink:PhenotypicFeature HP:0030261 biolink:PhenotypicFeature Orphanet:209908 biolink:Disease Isolated childhood apraxia of speech HP:0000750 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002474 biolink:PhenotypicFeature HP:0002546 biolink:PhenotypicFeature HP:0006977 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0010863 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0031434 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002339 biolink:PhenotypicFeature HP:0002340 biolink:PhenotypicFeature HP:0007015 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012434 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0011228 biolink:PhenotypicFeature Orphanet:217607 biolink:Disease Familial dilated cardiomyopathy HP:0001712 biolink:PhenotypicFeature HP:0025169 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0005110 biolink:PhenotypicFeature HP:0005133 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012664 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0004308 biolink:PhenotypicFeature HP:0004890 biolink:PhenotypicFeature HP:0011713 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0040081 biolink:PhenotypicFeature HP:0001677 biolink:PhenotypicFeature Orphanet:1934 biolink:Disease Early infantile epileptic encephalopathy HP:0001250 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010851 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002131 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002506 biolink:PhenotypicFeature HP:0007204 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0010850 biolink:PhenotypicFeature HP:0011169 biolink:PhenotypicFeature HP:0011190 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0040168 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000070 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001500 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0009381 biolink:PhenotypicFeature HP:0010174 biolink:PhenotypicFeature HP:0012554 biolink:PhenotypicFeature Orphanet:36387 biolink:Disease Generalized epilepsy with febrile seizures-plus HP:0002197 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002311 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002539 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0007058 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0010850 biolink:PhenotypicFeature HP:0011151 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0003066 biolink:PhenotypicFeature HP:0004684 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0008770 biolink:PhenotypicFeature HP:0100694 biolink:PhenotypicFeature Orphanet:280914 biolink:Disease Idiopathic anterior uveitis HP:0025337 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0040049 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000616 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0007787 biolink:PhenotypicFeature HP:0007906 biolink:PhenotypicFeature HP:0011484 biolink:PhenotypicFeature HP:0100018 biolink:PhenotypicFeature HP:0012796 biolink:PhenotypicFeature Orphanet:261911 biolink:Disease Partial deletion of the short arm of chromosome 7 HP:0000047 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001837 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002474 biolink:PhenotypicFeature HP:0003502 biolink:PhenotypicFeature HP:0003799 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004220 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005793 biolink:PhenotypicFeature HP:0008689 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009101 biolink:PhenotypicFeature HP:0009246 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0030031 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000350 biolink:PhenotypicFeature HP:0000402 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000475 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000599 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002332 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0008394 biolink:PhenotypicFeature HP:0009600 biolink:PhenotypicFeature HP:0010773 biolink:PhenotypicFeature HP:0011648 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0100034 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:279914 biolink:Disease Intermediate uveitis HP:0003765 biolink:PhenotypicFeature HP:0031035 biolink:PhenotypicFeature HP:0200056 biolink:PhenotypicFeature HP:0040049 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000585 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0011484 biolink:PhenotypicFeature HP:0011505 biolink:PhenotypicFeature HP:0012122 biolink:PhenotypicFeature HP:0030652 biolink:PhenotypicFeature HP:0030661 biolink:PhenotypicFeature HP:0100014 biolink:PhenotypicFeature HP:0100653 biolink:PhenotypicFeature HP:0100832 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature Orphanet:247585 biolink:Disease Citrullinemia type II HP:0001397 biolink:PhenotypicFeature HP:0008281 biolink:PhenotypicFeature HP:0011966 biolink:PhenotypicFeature HP:0045082 biolink:PhenotypicFeature HP:0000711 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000746 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003075 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0007159 biolink:PhenotypicFeature HP:0012164 biolink:PhenotypicFeature HP:0030166 biolink:PhenotypicFeature HP:0030765 biolink:PhenotypicFeature HP:0031258 biolink:PhenotypicFeature HP:0100738 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000805 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002181 biolink:PhenotypicFeature HP:0002480 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003233 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature HP:0012569 biolink:PhenotypicFeature HP:0100754 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature Orphanet:309031 biolink:Disease Pancreatic triacylglycerol lipase deficiency HP:0001738 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002570 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0004905 biolink:PhenotypicFeature HP:0011892 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100512 biolink:PhenotypicFeature HP:0100513 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001891 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002748 biolink:PhenotypicFeature HP:0002749 biolink:PhenotypicFeature HP:0012047 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0002583 biolink:PhenotypicFeature Orphanet:320 biolink:Disease Apparent mineralocorticoid excess HP:0000822 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0003351 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0001960 biolink:PhenotypicFeature HP:0004319 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011731 biolink:PhenotypicFeature HP:0012603 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0001095 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0012606 biolink:PhenotypicFeature Orphanet:247525 biolink:Disease Citrullinemia type I HP:0001987 biolink:PhenotypicFeature HP:0011966 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001950 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002480 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0000575 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature Orphanet:464306 biolink:Disease DYRK1A-related intellectual disability syndrome HP:0000252 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0003086 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002365 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature HP:0010627 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011832 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000125 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002247 biolink:PhenotypicFeature HP:0002280 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003187 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0010219 biolink:PhenotypicFeature Orphanet:468678 biolink:Disease White-Sutton syndrome HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006863 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000081 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000297 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002188 biolink:PhenotypicFeature HP:0002280 biolink:PhenotypicFeature HP:0002311 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0002933 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0012110 biolink:PhenotypicFeature HP:0012157 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:500159 biolink:Disease Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000363 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002280 biolink:PhenotypicFeature HP:0002365 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002786 biolink:PhenotypicFeature HP:0003086 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0007033 biolink:PhenotypicFeature HP:0008527 biolink:PhenotypicFeature HP:0009237 biolink:PhenotypicFeature HP:0009765 biolink:PhenotypicFeature HP:0030515 biolink:PhenotypicFeature HP:0200007 biolink:PhenotypicFeature Orphanet:404473 biolink:Disease Severe intellectual disability-progressive spastic diplegia syndrome HP:0000252 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002144 biolink:PhenotypicFeature HP:0002188 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0009765 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature Orphanet:280921 biolink:Disease Idiopathic panuveitis HP:0000504 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0025337 biolink:PhenotypicFeature HP:0030652 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000616 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0011484 biolink:PhenotypicFeature HP:0011505 biolink:PhenotypicFeature HP:0030661 biolink:PhenotypicFeature HP:0030953 biolink:PhenotypicFeature HP:0100832 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0007906 biolink:PhenotypicFeature HP:0011506 biolink:PhenotypicFeature HP:0100014 biolink:PhenotypicFeature Orphanet:457485 biolink:Disease Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome HP:0000256 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001355 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002212 biolink:PhenotypicFeature HP:0040168 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001538 biolink:PhenotypicFeature HP:0001540 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0004789 biolink:PhenotypicFeature HP:0005257 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0025104 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001998 biolink:PhenotypicFeature HP:0002720 biolink:PhenotypicFeature HP:0005266 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0012393 biolink:PhenotypicFeature Orphanet:556030 biolink:Disease Early-onset familial hypoaldosteronism HP:0001508 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0012606 biolink:PhenotypicFeature HP:0000848 biolink:PhenotypicFeature HP:0001278 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0004319 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012112 biolink:PhenotypicFeature HP:0025436 biolink:PhenotypicFeature HP:0000811 biolink:PhenotypicFeature Orphanet:556037 biolink:Disease Late-onset familial hypoaldosteronism HP:0000848 biolink:PhenotypicFeature HP:0001278 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0004319 biolink:PhenotypicFeature HP:0012112 biolink:PhenotypicFeature HP:0012606 biolink:PhenotypicFeature HP:0025436 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0000811 biolink:PhenotypicFeature Orphanet:99125 biolink:Disease Congenital total pulmonary venous return anomaly HP:0002098 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0011539 biolink:PhenotypicFeature HP:0011719 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012763 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001651 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0001719 biolink:PhenotypicFeature HP:0001750 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0004415 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0005253 biolink:PhenotypicFeature HP:0005949 biolink:PhenotypicFeature HP:0009805 biolink:PhenotypicFeature HP:0011720 biolink:PhenotypicFeature HP:0011721 biolink:PhenotypicFeature HP:0011722 biolink:PhenotypicFeature HP:0030853 biolink:PhenotypicFeature HP:0030918 biolink:PhenotypicFeature HP:0030919 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001669 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0011560 biolink:PhenotypicFeature HP:0012304 biolink:PhenotypicFeature Orphanet:93110 biolink:Disease Posterior urethral valve HP:0000010 biolink:PhenotypicFeature HP:0010957 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0008718 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0010677 biolink:PhenotypicFeature HP:0010945 biolink:PhenotypicFeature HP:0012330 biolink:PhenotypicFeature HP:0000016 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0005105 biolink:PhenotypicFeature HP:0008661 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature Orphanet:90038 biolink:Disease Shiga toxin-associated hemolytic uremic syndrome HP:0001873 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0001937 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0005423 biolink:PhenotypicFeature HP:0008282 biolink:PhenotypicFeature HP:0100519 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001923 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0001981 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0003641 biolink:PhenotypicFeature HP:0025085 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0031368 biolink:PhenotypicFeature HP:0100282 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0002035 biolink:PhenotypicFeature HP:0002576 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0012851 biolink:PhenotypicFeature Orphanet:85179 biolink:Disease Infantile osteopetrosis with neuroaxonal dysplasia HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001338 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0004330 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0012447 biolink:PhenotypicFeature HP:0025517 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0025116 biolink:PhenotypicFeature Orphanet:180229 biolink:Disease Polyembryoma HP:0010785 biolink:PhenotypicFeature HP:0030061 biolink:PhenotypicFeature HP:0030338 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002585 biolink:PhenotypicFeature HP:0005107 biolink:PhenotypicFeature HP:0006254 biolink:PhenotypicFeature HP:0012288 biolink:PhenotypicFeature HP:0031500 biolink:PhenotypicFeature HP:0040231 biolink:PhenotypicFeature HP:0045026 biolink:PhenotypicFeature HP:0000053 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0000858 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0003144 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0008236 biolink:PhenotypicFeature HP:0030088 biolink:PhenotypicFeature Orphanet:137686 biolink:Disease Asherman syndrome HP:0000140 biolink:PhenotypicFeature HP:0000868 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0100607 biolink:PhenotypicFeature HP:0100608 biolink:PhenotypicFeature HP:0031035 biolink:PhenotypicFeature HP:0100767 biolink:PhenotypicFeature Orphanet:141291 biolink:Disease Cleft lip and alveolus HP:0100267 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0005105 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0005324 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0410011 biolink:PhenotypicFeature HP:0000419 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature Orphanet:137935 biolink:Disease Laryngotracheal angioma HP:0010307 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0030864 biolink:PhenotypicFeature HP:0000329 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature Orphanet:238624 biolink:Disease Idiopathic intracranial hypertension HP:0002315 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0001085 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0012393 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0010822 biolink:PhenotypicFeature HP:0100851 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0008629 biolink:PhenotypicFeature HP:0011161 biolink:PhenotypicFeature Orphanet:210110 biolink:Disease Intermediate osteopetrosis HP:0004348 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0004618 biolink:PhenotypicFeature HP:0004975 biolink:PhenotypicFeature HP:0005652 biolink:PhenotypicFeature HP:0005746 biolink:PhenotypicFeature HP:0005789 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0001293 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0007958 biolink:PhenotypicFeature HP:0031035 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature Orphanet:199306 biolink:Disease Cleft lip/palate HP:0006292 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000220 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0100334 biolink:PhenotypicFeature HP:0200136 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0004395 biolink:PhenotypicFeature HP:0006342 biolink:PhenotypicFeature HP:0010294 biolink:PhenotypicFeature HP:0011044 biolink:PhenotypicFeature HP:0100337 biolink:PhenotypicFeature HP:0200153 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature Orphanet:209956 biolink:Disease Idiopathic uveal effusion syndrome HP:0000591 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0004328 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0012231 biolink:PhenotypicFeature HP:0025339 biolink:PhenotypicFeature HP:0030823 biolink:PhenotypicFeature HP:0031526 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0008052 biolink:PhenotypicFeature HP:0012508 biolink:PhenotypicFeature HP:0012632 biolink:PhenotypicFeature Orphanet:411709 biolink:Disease Renal agenesis HP:0000104 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0012300 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002009 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0008684 biolink:PhenotypicFeature HP:0010476 biolink:PhenotypicFeature HP:0010958 biolink:PhenotypicFeature HP:0012873 biolink:PhenotypicFeature Orphanet:199302 biolink:Disease Isolated cleft lip HP:0000389 biolink:PhenotypicFeature HP:0100335 biolink:PhenotypicFeature HP:0000220 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001572 biolink:PhenotypicFeature HP:0006332 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0011438 biolink:PhenotypicFeature HP:0031469 biolink:PhenotypicFeature HP:0040115 biolink:PhenotypicFeature HP:0100336 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001696 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature Orphanet:137596 biolink:Disease Neurotrophic keratopathy HP:0010824 biolink:PhenotypicFeature HP:0012155 biolink:PhenotypicFeature HP:0007924 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000495 biolink:PhenotypicFeature HP:0000559 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000632 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0012040 biolink:PhenotypicFeature HP:0012122 biolink:PhenotypicFeature HP:0012804 biolink:PhenotypicFeature HP:0012533 biolink:PhenotypicFeature HP:0100583 biolink:PhenotypicFeature HP:0100963 biolink:PhenotypicFeature Orphanet:99772 biolink:Disease Cleft velum HP:0000185 biolink:PhenotypicFeature HP:0000220 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0010863 biolink:PhenotypicFeature HP:0011469 biolink:PhenotypicFeature HP:0200136 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0011219 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature Orphanet:97336 biolink:Disease Panner disease HP:0009810 biolink:PhenotypicFeature HP:0040188 biolink:PhenotypicFeature HP:0001377 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0002996 biolink:PhenotypicFeature HP:0003063 biolink:PhenotypicFeature HP:0030835 biolink:PhenotypicFeature HP:0001871 biolink:PhenotypicFeature HP:0003945 biolink:PhenotypicFeature HP:0025259 biolink:PhenotypicFeature HP:0030865 biolink:PhenotypicFeature Orphanet:93552 biolink:Disease Pediatric systemic lupus erythematosus HP:0003565 biolink:PhenotypicFeature HP:0005421 biolink:PhenotypicFeature HP:0045042 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000123 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001937 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0003613 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0000155 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0007417 biolink:PhenotypicFeature HP:0025300 biolink:PhenotypicFeature HP:0025343 biolink:PhenotypicFeature HP:0040319 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0003453 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:95427 biolink:Disease Secondary short bowel syndrome HP:0001824 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002244 biolink:PhenotypicFeature HP:0004395 biolink:PhenotypicFeature HP:0100508 biolink:PhenotypicFeature HP:0000832 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001543 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001977 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002570 biolink:PhenotypicFeature HP:0002580 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0002621 biolink:PhenotypicFeature HP:0003111 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0003572 biolink:PhenotypicFeature HP:0004387 biolink:PhenotypicFeature HP:0011473 biolink:PhenotypicFeature HP:0012850 biolink:PhenotypicFeature HP:0030247 biolink:PhenotypicFeature HP:0030248 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0011100 biolink:PhenotypicFeature HP:0011787 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:79492 biolink:Disease Pili gemini HP:0003329 biolink:PhenotypicFeature HP:0003328 biolink:PhenotypicFeature Orphanet:96369 biolink:Disease Early-onset schizophrenia HP:0000709 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000746 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001575 biolink:PhenotypicFeature HP:0002332 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0008763 biolink:PhenotypicFeature HP:0030858 biolink:PhenotypicFeature HP:0031466 biolink:PhenotypicFeature HP:0031469 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000711 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000745 biolink:PhenotypicFeature HP:0000751 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002367 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0010865 biolink:PhenotypicFeature HP:0011999 biolink:PhenotypicFeature HP:0012154 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0031354 biolink:PhenotypicFeature HP:0031588 biolink:PhenotypicFeature HP:0031589 biolink:PhenotypicFeature HP:0100851 biolink:PhenotypicFeature HP:0100962 biolink:PhenotypicFeature HP:0008765 biolink:PhenotypicFeature HP:0030018 biolink:PhenotypicFeature HP:0040306 biolink:PhenotypicFeature HP:0100754 biolink:PhenotypicFeature HP:0100786 biolink:PhenotypicFeature Orphanet:97214 biolink:Disease Eisenmenger syndrome HP:0001627 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0004755 biolink:PhenotypicFeature HP:0005110 biolink:PhenotypicFeature HP:0005115 biolink:PhenotypicFeature HP:0005317 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001217 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0001694 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0001891 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0004756 biolink:PhenotypicFeature HP:0004840 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0006695 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0011604 biolink:PhenotypicFeature HP:0011712 biolink:PhenotypicFeature HP:0012382 biolink:PhenotypicFeature HP:0012398 biolink:PhenotypicFeature HP:0030848 biolink:PhenotypicFeature HP:0030849 biolink:PhenotypicFeature HP:0031138 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0004308 biolink:PhenotypicFeature HP:0005518 biolink:PhenotypicFeature HP:0006689 biolink:PhenotypicFeature HP:0007430 biolink:PhenotypicFeature HP:0030049 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0100724 biolink:PhenotypicFeature Orphanet:97335 biolink:Disease Osgood-Schlatter disease HP:0030839 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003045 biolink:PhenotypicFeature HP:0003066 biolink:PhenotypicFeature HP:0006456 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0002362 biolink:PhenotypicFeature HP:0030866 biolink:PhenotypicFeature Orphanet:97337 biolink:Disease Sinding-Larsen-Johansson disease HP:0030839 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0010501 biolink:PhenotypicFeature HP:0040188 biolink:PhenotypicFeature HP:0002661 biolink:PhenotypicFeature Orphanet:140896 biolink:Disease Severe acute respiratory syndrome HP:0012735 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0006528 biolink:PhenotypicFeature HP:0011949 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0025439 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature Orphanet:141127 biolink:Disease Congenital tracheal stenosis HP:0001612 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002778 biolink:PhenotypicFeature HP:0005607 biolink:PhenotypicFeature HP:0011661 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0030923 biolink:PhenotypicFeature HP:0000069 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000363 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001791 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0002245 biolink:PhenotypicFeature HP:0002247 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0002577 biolink:PhenotypicFeature HP:0004935 biolink:PhenotypicFeature HP:0005151 biolink:PhenotypicFeature HP:0012718 biolink:PhenotypicFeature HP:0012768 biolink:PhenotypicFeature HP:0031935 biolink:PhenotypicFeature HP:0100867 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0002781 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0025426 biolink:PhenotypicFeature Orphanet:139507 biolink:Disease African iron overload HP:0003281 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0002614 biolink:PhenotypicFeature HP:0006562 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012463 biolink:PhenotypicFeature HP:0012465 biolink:PhenotypicFeature HP:0000078 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0001413 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003118 biolink:PhenotypicFeature HP:0011732 biolink:PhenotypicFeature HP:0011772 biolink:PhenotypicFeature HP:0012090 biolink:PhenotypicFeature HP:0012852 biolink:PhenotypicFeature HP:0031035 biolink:PhenotypicFeature HP:0100510 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0011459 biolink:PhenotypicFeature Orphanet:137914 biolink:Disease Choanal atresia HP:0001742 biolink:PhenotypicFeature HP:0011109 biolink:PhenotypicFeature HP:0031416 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001607 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002779 biolink:PhenotypicFeature HP:0002781 biolink:PhenotypicFeature HP:0005321 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0030215 biolink:PhenotypicFeature HP:0030842 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature Orphanet:93323 biolink:Disease Fibular hemimelia HP:0030772 biolink:PhenotypicFeature HP:0031058 biolink:PhenotypicFeature HP:0045086 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000593 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001849 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002990 biolink:PhenotypicFeature HP:0003274 biolink:PhenotypicFeature HP:0040071 biolink:PhenotypicFeature HP:0100257 biolink:PhenotypicFeature HP:0100656 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002982 biolink:PhenotypicFeature HP:0006436 biolink:PhenotypicFeature HP:0006437 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0040066 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001772 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002979 biolink:PhenotypicFeature HP:0003038 biolink:PhenotypicFeature HP:0003097 biolink:PhenotypicFeature HP:0003184 biolink:PhenotypicFeature HP:0003365 biolink:PhenotypicFeature HP:0005085 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006460 biolink:PhenotypicFeature HP:0010219 biolink:PhenotypicFeature HP:0011849 biolink:PhenotypicFeature HP:0012165 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0030043 biolink:PhenotypicFeature Orphanet:1199 biolink:Disease Esophageal atresia HP:0002575 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0003781 biolink:PhenotypicFeature HP:0006510 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010963 biolink:PhenotypicFeature HP:0012387 biolink:PhenotypicFeature HP:0012523 biolink:PhenotypicFeature HP:0100326 biolink:PhenotypicFeature HP:0100633 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001604 biolink:PhenotypicFeature HP:0001607 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002835 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0004885 biolink:PhenotypicFeature HP:0008755 biolink:PhenotypicFeature HP:0012252 biolink:PhenotypicFeature HP:0012718 biolink:PhenotypicFeature HP:0012732 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0040064 biolink:PhenotypicFeature HP:0040290 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000598 biolink:PhenotypicFeature HP:0000811 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002247 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002672 biolink:PhenotypicFeature HP:0008751 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0100580 biolink:PhenotypicFeature HP:0410030 biolink:PhenotypicFeature Orphanet:132 biolink:Disease Butyrylcholinesterase deficiency HP:0012379 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0031035 biolink:PhenotypicFeature Orphanet:2126 biolink:Disease Solitary fibrous tumor/hemangiopericytoma HP:0001824 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0010787 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0031459 biolink:PhenotypicFeature HP:0100527 biolink:PhenotypicFeature HP:0000016 biolink:PhenotypicFeature HP:0000290 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001988 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002585 biolink:PhenotypicFeature HP:0002896 biolink:PhenotypicFeature HP:0003419 biolink:PhenotypicFeature HP:0004375 biolink:PhenotypicFeature HP:0004912 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0008775 biolink:PhenotypicFeature HP:0010784 biolink:PhenotypicFeature HP:0012125 biolink:PhenotypicFeature HP:0030166 biolink:PhenotypicFeature HP:0030795 biolink:PhenotypicFeature HP:0031501 biolink:PhenotypicFeature HP:0040216 biolink:PhenotypicFeature HP:0045026 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature HP:0100650 biolink:PhenotypicFeature Orphanet:85436 biolink:Disease Psoriasis-related juvenile idiopathic arthritis HP:0011118 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001803 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0003765 biolink:PhenotypicFeature HP:0005764 biolink:PhenotypicFeature HP:0031090 biolink:PhenotypicFeature HP:0031091 biolink:PhenotypicFeature HP:0040313 biolink:PhenotypicFeature HP:0100686 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003043 biolink:PhenotypicFeature HP:0005197 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0012122 biolink:PhenotypicFeature HP:0025300 biolink:PhenotypicFeature HP:0025526 biolink:PhenotypicFeature HP:0001094 biolink:PhenotypicFeature HP:0001101 biolink:PhenotypicFeature HP:0001806 biolink:PhenotypicFeature HP:0010754 biolink:PhenotypicFeature HP:0012317 biolink:PhenotypicFeature Orphanet:83468 biolink:Disease Solitary bone cyst HP:0012064 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002756 biolink:PhenotypicFeature HP:0003926 biolink:PhenotypicFeature HP:0006431 biolink:PhenotypicFeature HP:0100253 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0012428 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0002143 biolink:PhenotypicFeature HP:0002696 biolink:PhenotypicFeature HP:0002867 biolink:PhenotypicFeature HP:0003172 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003979 biolink:PhenotypicFeature HP:0100748 biolink:PhenotypicFeature Orphanet:86820 biolink:Disease Familial avascular necrosis of femoral head HP:0003366 biolink:PhenotypicFeature HP:0031520 biolink:PhenotypicFeature HP:0007311 biolink:PhenotypicFeature HP:0008800 biolink:PhenotypicFeature HP:0008812 biolink:PhenotypicFeature HP:0008843 biolink:PhenotypicFeature HP:0030838 biolink:PhenotypicFeature HP:0031058 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature Orphanet:85448 biolink:Disease AGel amyloidosis HP:0000478 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001005 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001149 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000973 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001271 biolink:PhenotypicFeature HP:0002411 biolink:PhenotypicFeature HP:0007067 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0011356 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012185 biolink:PhenotypicFeature HP:0012804 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001006 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0004926 biolink:PhenotypicFeature HP:0007488 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0010749 biolink:PhenotypicFeature HP:0012473 biolink:PhenotypicFeature HP:0025408 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0002483 biolink:PhenotypicFeature HP:0002549 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature Orphanet:141333 biolink:Disease Biemond syndrome type 2 HP:0000044 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005321 biolink:PhenotypicFeature HP:0100258 biolink:PhenotypicFeature Orphanet:75564 biolink:Disease Acquired idiopathic sideroblastic anemia HP:0004828 biolink:PhenotypicFeature HP:0010972 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001895 biolink:PhenotypicFeature HP:0001897 biolink:PhenotypicFeature HP:0012132 biolink:PhenotypicFeature HP:0200143 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001931 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0011447 biolink:PhenotypicFeature HP:0012136 biolink:PhenotypicFeature HP:0012137 biolink:PhenotypicFeature HP:0012143 biolink:PhenotypicFeature HP:0031035 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001894 biolink:PhenotypicFeature HP:0001913 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0004808 biolink:PhenotypicFeature HP:0005513 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature Orphanet:77293 biolink:Disease Chronic visceral acid sphingomyelinase deficiency HP:0000823 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001971 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0003119 biolink:PhenotypicFeature HP:0003141 biolink:PhenotypicFeature HP:0003233 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006520 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0010729 biolink:PhenotypicFeature HP:0012415 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0030353 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001677 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001973 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002186 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0002756 biolink:PhenotypicFeature HP:0002896 biolink:PhenotypicFeature HP:0004836 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007302 biolink:PhenotypicFeature Orphanet:370079 biolink:Disease Proximal 16p11.2 microduplication syndrome HP:0000219 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000653 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0012751 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0045082 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0030800 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0007302 biolink:PhenotypicFeature HP:0009553 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature Orphanet:401973 biolink:Disease MEND syndrome HP:0003462 biolink:PhenotypicFeature HP:0003465 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000422 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000472 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0005590 biolink:PhenotypicFeature HP:0006958 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0009941 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0010557 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature Orphanet:86839 biolink:Disease Refractory anemia with excess blasts HP:0010972 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0001017 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0000573 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0004808 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0005561 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0010876 biolink:PhenotypicFeature HP:0012116 biolink:PhenotypicFeature HP:0012136 biolink:PhenotypicFeature HP:0012148 biolink:PhenotypicFeature HP:0012150 biolink:PhenotypicFeature HP:0025065 biolink:PhenotypicFeature HP:0031035 biolink:PhenotypicFeature Orphanet:86843 biolink:Disease Acute panmyelosis with myelofibrosis HP:0001876 biolink:PhenotypicFeature HP:0011974 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0012129 biolink:PhenotypicFeature HP:0012143 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0031020 biolink:PhenotypicFeature HP:0003419 biolink:PhenotypicFeature HP:0004808 biolink:PhenotypicFeature HP:0004820 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0031385 biolink:PhenotypicFeature HP:0031386 biolink:PhenotypicFeature HP:0100827 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature Orphanet:86841 biolink:Disease Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality HP:0002863 biolink:PhenotypicFeature HP:0001877 biolink:PhenotypicFeature HP:0001894 biolink:PhenotypicFeature HP:0001972 biolink:PhenotypicFeature HP:0012133 biolink:PhenotypicFeature HP:0012143 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0031020 biolink:PhenotypicFeature HP:0031385 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0004808 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0011273 biolink:PhenotypicFeature HP:0011992 biolink:PhenotypicFeature HP:0012129 biolink:PhenotypicFeature HP:0012148 biolink:PhenotypicFeature HP:0031035 biolink:PhenotypicFeature Orphanet:98827 biolink:Disease Unclassified myelodysplastic syndrome HP:0002863 biolink:PhenotypicFeature HP:0001871 biolink:PhenotypicFeature HP:0012148 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0045040 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0030166 biolink:PhenotypicFeature HP:0004808 biolink:PhenotypicFeature Orphanet:98826 biolink:Disease Refractory anemia HP:0002863 biolink:PhenotypicFeature HP:0010972 biolink:PhenotypicFeature HP:0001972 biolink:PhenotypicFeature HP:0012133 biolink:PhenotypicFeature HP:0012150 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0001895 biolink:PhenotypicFeature HP:0001897 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0030872 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature Orphanet:98977 biolink:Disease Juvenile glaucoma HP:0000505 biolink:PhenotypicFeature HP:0000525 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000593 biolink:PhenotypicFeature HP:0001138 biolink:PhenotypicFeature HP:0007854 biolink:PhenotypicFeature HP:0007906 biolink:PhenotypicFeature HP:0007994 biolink:PhenotypicFeature HP:0012108 biolink:PhenotypicFeature HP:0011003 biolink:PhenotypicFeature HP:0012511 biolink:PhenotypicFeature HP:0012796 biolink:PhenotypicFeature HP:0000603 biolink:PhenotypicFeature HP:0012636 biolink:PhenotypicFeature HP:0025326 biolink:PhenotypicFeature Orphanet:98969 biolink:Disease Macular corneal dystrophy HP:0000531 biolink:PhenotypicFeature HP:0004355 biolink:PhenotypicFeature HP:0007759 biolink:PhenotypicFeature HP:0007856 biolink:PhenotypicFeature HP:0000495 biolink:PhenotypicFeature HP:0001141 biolink:PhenotypicFeature HP:0100689 biolink:PhenotypicFeature HP:0000484 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0012155 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature Orphanet:93321 biolink:Disease Radial hemimelia HP:0006501 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0004243 biolink:PhenotypicFeature HP:0004252 biolink:PhenotypicFeature HP:0009484 biolink:PhenotypicFeature HP:0010035 biolink:PhenotypicFeature Orphanet:99926 biolink:Disease Gestational choriocarcinoma HP:0100768 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0011433 biolink:PhenotypicFeature HP:0031502 biolink:PhenotypicFeature HP:0100608 biolink:PhenotypicFeature Orphanet:83463 biolink:Disease Microtia HP:0008551 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000413 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0008589 biolink:PhenotypicFeature HP:0009892 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature Orphanet:2177 biolink:Disease Hydranencephaly HP:0000618 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0008610 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0010994 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001264 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0002179 biolink:PhenotypicFeature HP:0006698 biolink:PhenotypicFeature HP:0007023 biolink:PhenotypicFeature HP:0009145 biolink:PhenotypicFeature HP:0010652 biolink:PhenotypicFeature HP:0011328 biolink:PhenotypicFeature HP:0025040 biolink:PhenotypicFeature HP:0025099 biolink:PhenotypicFeature HP:0025258 biolink:PhenotypicFeature HP:0025517 biolink:PhenotypicFeature HP:0410279 biolink:PhenotypicFeature HP:3000062 biolink:PhenotypicFeature HP:0000533 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0010653 biolink:PhenotypicFeature Orphanet:75377 biolink:Disease Central areolar choroidal dystrophy HP:0030631 biolink:PhenotypicFeature HP:0031152 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0007401 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007894 biolink:PhenotypicFeature HP:0007924 biolink:PhenotypicFeature HP:0030615 biolink:PhenotypicFeature HP:0000533 biolink:PhenotypicFeature HP:0007814 biolink:PhenotypicFeature HP:0007980 biolink:PhenotypicFeature HP:0011510 biolink:PhenotypicFeature HP:0030491 biolink:PhenotypicFeature HP:0030629 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0007641 biolink:PhenotypicFeature Orphanet:71213 biolink:Disease Retinal capillary malformation HP:0007663 biolink:PhenotypicFeature HP:0009711 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0001147 biolink:PhenotypicFeature HP:0007902 biolink:PhenotypicFeature HP:0008014 biolink:PhenotypicFeature HP:0011532 biolink:PhenotypicFeature HP:0011886 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0012803 biolink:PhenotypicFeature HP:0030528 biolink:PhenotypicFeature HP:0030786 biolink:PhenotypicFeature HP:0100014 biolink:PhenotypicFeature HP:0100832 biolink:PhenotypicFeature Orphanet:70591 biolink:Disease Chronic thromboembolic pulmonary hypertension HP:0001635 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0005317 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002625 biolink:PhenotypicFeature HP:0002792 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030877 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001693 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0001871 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003613 biolink:PhenotypicFeature HP:0004831 biolink:PhenotypicFeature HP:0005133 biolink:PhenotypicFeature HP:0005135 biolink:PhenotypicFeature HP:0005162 biolink:PhenotypicFeature HP:0010536 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0011712 biolink:PhenotypicFeature HP:0011901 biolink:PhenotypicFeature HP:0012146 biolink:PhenotypicFeature HP:0012184 biolink:PhenotypicFeature HP:0012417 biolink:PhenotypicFeature HP:0025343 biolink:PhenotypicFeature HP:0030718 biolink:PhenotypicFeature HP:0030977 biolink:PhenotypicFeature HP:0002037 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0005547 biolink:PhenotypicFeature Orphanet:70578 biolink:Disease Adult acute respiratory distress syndrome HP:0002094 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0012415 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0030782 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0011118 biolink:PhenotypicFeature HP:0030783 biolink:PhenotypicFeature HP:0031273 biolink:PhenotypicFeature HP:0100598 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001953 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature Orphanet:64280 biolink:Disease Childhood absence epilepsy HP:0010848 biolink:PhenotypicFeature HP:0011147 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0002883 biolink:PhenotypicFeature HP:0007738 biolink:PhenotypicFeature HP:0010522 biolink:PhenotypicFeature HP:0010794 biolink:PhenotypicFeature HP:0011150 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0030218 biolink:PhenotypicFeature HP:0031469 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0006961 biolink:PhenotypicFeature HP:0045084 biolink:PhenotypicFeature Orphanet:230 biolink:Disease Dopamine beta-hydroxylase deficiency HP:0001278 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0011979 biolink:PhenotypicFeature HP:0012384 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0003138 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0009020 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012877 biolink:PhenotypicFeature HP:0000017 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0003115 biolink:PhenotypicFeature HP:0012670 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature Orphanet:563 biolink:Disease Peripartum cardiomyopathy HP:0000822 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0005135 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0011703 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012664 biolink:PhenotypicFeature HP:0012764 biolink:PhenotypicFeature HP:0025169 biolink:PhenotypicFeature HP:0030848 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0004756 biolink:PhenotypicFeature HP:0005120 biolink:PhenotypicFeature HP:0005133 biolink:PhenotypicFeature HP:0006705 biolink:PhenotypicFeature HP:0012398 biolink:PhenotypicFeature HP:0012763 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0030356 biolink:PhenotypicFeature HP:0030830 biolink:PhenotypicFeature HP:0031295 biolink:PhenotypicFeature HP:0100602 biolink:PhenotypicFeature HP:0100603 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002401 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0002926 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0011713 biolink:PhenotypicFeature HP:0030149 biolink:PhenotypicFeature Orphanet:521258 biolink:Disease Xq25 microduplication syndrome HP:0000272 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000297 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0008050 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:353298 biolink:Disease Roifman syndrome HP:0000044 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001795 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002655 biolink:PhenotypicFeature HP:0002656 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0003273 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004625 biolink:PhenotypicFeature HP:0005041 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008804 biolink:PhenotypicFeature HP:0008828 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011231 biolink:PhenotypicFeature HP:0410170 biolink:PhenotypicFeature HP:0012817 biolink:PhenotypicFeature HP:0005419 biolink:PhenotypicFeature Orphanet:157954 biolink:Disease ANE syndrome HP:0000044 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002333 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006480 biolink:PhenotypicFeature HP:0007373 biolink:PhenotypicFeature HP:0007481 biolink:PhenotypicFeature HP:0009487 biolink:PhenotypicFeature HP:0010627 biolink:PhenotypicFeature HP:0011735 biolink:PhenotypicFeature HP:0030353 biolink:PhenotypicFeature HP:0031074 biolink:PhenotypicFeature HP:0040171 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0003700 biolink:PhenotypicFeature HP:0008202 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature Orphanet:51636 biolink:Disease WHIM syndrome HP:0001875 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0011992 biolink:PhenotypicFeature HP:0031020 biolink:PhenotypicFeature HP:0031160 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0012740 biolink:PhenotypicFeature HP:0200043 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002244 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0025439 biolink:PhenotypicFeature HP:0030079 biolink:PhenotypicFeature HP:0000166 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0002840 biolink:PhenotypicFeature HP:0011850 biolink:PhenotypicFeature HP:0012056 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:52427 biolink:Disease Retinitis punctata albescens HP:0000529 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0008323 biolink:PhenotypicFeature HP:0030506 biolink:PhenotypicFeature HP:0030825 biolink:PhenotypicFeature HP:0000603 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0007675 biolink:PhenotypicFeature HP:0007814 biolink:PhenotypicFeature HP:0007843 biolink:PhenotypicFeature HP:0007987 biolink:PhenotypicFeature HP:0007994 biolink:PhenotypicFeature HP:0001105 biolink:PhenotypicFeature HP:0001142 biolink:PhenotypicFeature HP:0007401 biolink:PhenotypicFeature HP:0008527 biolink:PhenotypicFeature HP:0011505 biolink:PhenotypicFeature HP:0031605 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature Orphanet:37042 biolink:Disease Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome HP:0002960 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0000976 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001891 biolink:PhenotypicFeature HP:0002242 biolink:PhenotypicFeature HP:0003111 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature HP:0005208 biolink:PhenotypicFeature HP:0007473 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0012393 biolink:PhenotypicFeature HP:0025379 biolink:PhenotypicFeature HP:0031401 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001890 biolink:PhenotypicFeature HP:0001904 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0001973 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0002917 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003765 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0006515 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012578 biolink:PhenotypicFeature HP:0030909 biolink:PhenotypicFeature HP:0031085 biolink:PhenotypicFeature HP:0031104 biolink:PhenotypicFeature HP:0031123 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000836 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002583 biolink:PhenotypicFeature HP:0002595 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0005263 biolink:PhenotypicFeature HP:0025156 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:49041 biolink:Disease IgG4-related retroperitoneal fibrosis HP:0012531 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001897 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0003138 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0003419 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0005310 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012583 biolink:PhenotypicFeature HP:0025379 biolink:PhenotypicFeature HP:0030157 biolink:PhenotypicFeature HP:0031191 biolink:PhenotypicFeature HP:0000074 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0001370 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0002923 biolink:PhenotypicFeature HP:0003262 biolink:PhenotypicFeature HP:0003453 biolink:PhenotypicFeature HP:0003765 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0012578 biolink:PhenotypicFeature HP:0000034 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0002639 biolink:PhenotypicFeature HP:0008682 biolink:PhenotypicFeature HP:0012871 biolink:PhenotypicFeature HP:0012877 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature HP:0100817 biolink:PhenotypicFeature Orphanet:60033 biolink:Disease Idiopathic bronchiectasis HP:0002110 biolink:PhenotypicFeature HP:0005952 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0031245 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002783 biolink:PhenotypicFeature HP:0005376 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0030830 biolink:PhenotypicFeature HP:0030877 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0011949 biolink:PhenotypicFeature HP:0100812 biolink:PhenotypicFeature HP:0001217 biolink:PhenotypicFeature Orphanet:60032 biolink:Disease Recurrent respiratory papillomatosis HP:0001609 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002778 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002781 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0010307 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0031246 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0002779 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0030842 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature Orphanet:54370 biolink:Disease Primary membranoproliferative glomerulonephritis HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0002907 biolink:PhenotypicFeature HP:0004746 biolink:PhenotypicFeature HP:0005421 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0030888 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001977 biolink:PhenotypicFeature HP:0011510 biolink:PhenotypicFeature Orphanet:57196 biolink:Disease Medial condensing osteitis of the clavicle HP:0000889 biolink:PhenotypicFeature HP:0010657 biolink:PhenotypicFeature HP:0030834 biolink:PhenotypicFeature HP:0006467 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature Orphanet:39812 biolink:Disease Graft versus host disease HP:0011123 biolink:PhenotypicFeature HP:0000155 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0010280 biolink:PhenotypicFeature HP:0040186 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0200123 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0002996 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004386 biolink:PhenotypicFeature HP:0006467 biolink:PhenotypicFeature HP:0012156 biolink:PhenotypicFeature HP:0031123 biolink:PhenotypicFeature HP:0031359 biolink:PhenotypicFeature HP:0031452 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0100533 biolink:PhenotypicFeature HP:0100537 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0200119 biolink:PhenotypicFeature HP:0000211 biolink:PhenotypicFeature HP:0000633 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0005198 biolink:PhenotypicFeature HP:0005679 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature Orphanet:49566 biolink:Disease Acquired purpura fulminans HP:0000988 biolink:PhenotypicFeature HP:0001063 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001977 biolink:PhenotypicFeature HP:0002958 biolink:PhenotypicFeature HP:0003645 biolink:PhenotypicFeature HP:0004855 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature HP:0005543 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0011900 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0025022 biolink:PhenotypicFeature HP:0025475 biolink:PhenotypicFeature HP:0031273 biolink:PhenotypicFeature HP:0031365 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0011029 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0025452 biolink:PhenotypicFeature Orphanet:35078 biolink:Disease T-B+ severe combined immunodeficiency due to JAK3 deficiency HP:0003347 biolink:PhenotypicFeature HP:0005354 biolink:PhenotypicFeature HP:0005403 biolink:PhenotypicFeature HP:0031381 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0005390 biolink:PhenotypicFeature HP:0009098 biolink:PhenotypicFeature HP:0040219 biolink:PhenotypicFeature HP:0000371 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0002850 biolink:PhenotypicFeature HP:0004315 biolink:PhenotypicFeature HP:0004798 biolink:PhenotypicFeature HP:0005364 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0010976 biolink:PhenotypicFeature HP:0011837 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature HP:0000143 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature Orphanet:1330 biolink:Disease Partial atrioventricular septal defect HP:0011577 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0009020 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0001692 biolink:PhenotypicFeature HP:0001702 biolink:PhenotypicFeature HP:0001719 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0004749 biolink:PhenotypicFeature HP:0006689 biolink:PhenotypicFeature HP:0010772 biolink:PhenotypicFeature HP:0011565 biolink:PhenotypicFeature HP:0030853 biolink:PhenotypicFeature HP:0031298 biolink:PhenotypicFeature Orphanet:100973 biolink:Disease FRAXE intellectual disability HP:0000713 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009904 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0100023 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0012172 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature Orphanet:35878 biolink:Disease Hyperinsulinism-hyperammonemia syndrome HP:0008162 biolink:PhenotypicFeature HP:0012051 biolink:PhenotypicFeature HP:0000825 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008283 biolink:PhenotypicFeature HP:0011198 biolink:PhenotypicFeature HP:0012402 biolink:PhenotypicFeature Orphanet:251383 biolink:Disease CK syndrome HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001533 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002538 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0007874 biolink:PhenotypicFeature HP:0010511 biolink:PhenotypicFeature HP:0025406 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0003107 biolink:PhenotypicFeature Orphanet:514 biolink:Disease Acute monoblastic/monocytic leukemia HP:0004845 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0031020 biolink:PhenotypicFeature HP:0100827 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001730 biolink:PhenotypicFeature HP:0001785 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001931 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0011787 biolink:PhenotypicFeature HP:0012145 biolink:PhenotypicFeature HP:0025289 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0100520 biolink:PhenotypicFeature HP:0100539 biolink:PhenotypicFeature Orphanet:328 biolink:Disease Congenital factor X deficiency HP:0008151 biolink:PhenotypicFeature HP:0008321 biolink:PhenotypicFeature HP:0004846 biolink:PhenotypicFeature HP:0006298 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000132 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0005261 biolink:PhenotypicFeature HP:0007420 biolink:PhenotypicFeature HP:0011884 biolink:PhenotypicFeature HP:0011891 biolink:PhenotypicFeature HP:0012233 biolink:PhenotypicFeature HP:0025328 biolink:PhenotypicFeature HP:0030140 biolink:PhenotypicFeature HP:0002138 biolink:PhenotypicFeature HP:0011854 biolink:PhenotypicFeature Orphanet:2086 biolink:Disease Optic pathway glioma HP:0000572 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001067 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0001085 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0003473 biolink:PhenotypicFeature Orphanet:2688 biolink:Disease Adult idiopathic neutropenia HP:0001875 biolink:PhenotypicFeature HP:0005202 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0005561 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0003496 biolink:PhenotypicFeature HP:0011107 biolink:PhenotypicFeature HP:0012139 biolink:PhenotypicFeature HP:0012312 biolink:PhenotypicFeature HP:0031020 biolink:PhenotypicFeature HP:0002841 biolink:PhenotypicFeature HP:0012311 biolink:PhenotypicFeature HP:0003453 biolink:PhenotypicFeature HP:0011991 biolink:PhenotypicFeature Orphanet:288 biolink:Disease Hereditary elliptocytosis HP:0001877 biolink:PhenotypicFeature HP:0004445 biolink:PhenotypicFeature HP:0005502 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0001923 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0003265 biolink:PhenotypicFeature HP:0004446 biolink:PhenotypicFeature HP:0004447 biolink:PhenotypicFeature HP:0004804 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature Orphanet:88 biolink:Disease Idiopathic aplastic anemia HP:0001903 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001896 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000573 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0031364 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature Orphanet:853 biolink:Disease Fetal and neonatal alloimmune thrombocytopenia HP:0004809 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0007420 biolink:PhenotypicFeature HP:0012541 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002249 biolink:PhenotypicFeature HP:0031364 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002138 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature Orphanet:185 biolink:Disease Scimitar syndrome HP:0001627 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001651 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0004971 biolink:PhenotypicFeature HP:0005345 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001719 biolink:PhenotypicFeature HP:0001750 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0010772 biolink:PhenotypicFeature HP:0010773 biolink:PhenotypicFeature HP:0011560 biolink:PhenotypicFeature HP:0012382 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025495 biolink:PhenotypicFeature HP:0040044 biolink:PhenotypicFeature HP:0040045 biolink:PhenotypicFeature HP:0100632 biolink:PhenotypicFeature HP:0100730 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0001660 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature HP:0011638 biolink:PhenotypicFeature HP:0011662 biolink:PhenotypicFeature HP:0011670 biolink:PhenotypicFeature HP:0011671 biolink:PhenotypicFeature HP:0012722 biolink:PhenotypicFeature Orphanet:470 biolink:Disease Lysinuric protein intolerance HP:0001508 biolink:PhenotypicFeature HP:0000091 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000099 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002154 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002570 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003141 biolink:PhenotypicFeature HP:0003217 biolink:PhenotypicFeature HP:0003233 biolink:PhenotypicFeature HP:0003268 biolink:PhenotypicFeature HP:0003297 biolink:PhenotypicFeature HP:0003348 biolink:PhenotypicFeature HP:0006517 biolink:PhenotypicFeature HP:0008358 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011966 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012156 biolink:PhenotypicFeature HP:0012213 biolink:PhenotypicFeature HP:0012278 biolink:PhenotypicFeature HP:0012523 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0031020 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001917 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0003218 biolink:PhenotypicFeature HP:0003281 biolink:PhenotypicFeature HP:0003532 biolink:PhenotypicFeature HP:0005368 biolink:PhenotypicFeature HP:0011424 biolink:PhenotypicFeature HP:0011900 biolink:PhenotypicFeature HP:0012280 biolink:PhenotypicFeature HP:0012578 biolink:PhenotypicFeature HP:0030760 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0002756 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004431 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature Orphanet:822 biolink:Disease Hereditary spherocytosis HP:0005502 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001923 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0004444 biolink:PhenotypicFeature HP:0005525 biolink:PhenotypicFeature HP:0011900 biolink:PhenotypicFeature HP:0025548 biolink:PhenotypicFeature HP:0100724 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001978 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0005130 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0040186 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001997 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:3129 biolink:Disease Sarcosinemia HP:0010896 biolink:PhenotypicFeature HP:0010897 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002371 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0007875 biolink:PhenotypicFeature HP:0008610 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010522 biolink:PhenotypicFeature HP:0011727 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:212 biolink:Disease Cystathioninuria HP:0003153 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0003286 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature Orphanet:325 biolink:Disease Congenital factor II deficiency HP:0006298 biolink:PhenotypicFeature HP:0011884 biolink:PhenotypicFeature HP:0011890 biolink:PhenotypicFeature HP:0011891 biolink:PhenotypicFeature HP:0012233 biolink:PhenotypicFeature HP:0012541 biolink:PhenotypicFeature HP:0030137 biolink:PhenotypicFeature HP:0030138 biolink:PhenotypicFeature HP:0030140 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0003645 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0012201 biolink:PhenotypicFeature HP:0040250 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0005261 biolink:PhenotypicFeature HP:0000132 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002907 biolink:PhenotypicFeature Orphanet:141179 biolink:Disease Non-involuting congenital hemangioma HP:0001028 biolink:PhenotypicFeature HP:0007466 biolink:PhenotypicFeature HP:0007618 biolink:PhenotypicFeature HP:0031449 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0001015 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0031207 biolink:PhenotypicFeature HP:0100784 biolink:PhenotypicFeature HP:0410266 biolink:PhenotypicFeature HP:0012329 biolink:PhenotypicFeature Orphanet:2330 biolink:Disease Kasabach-Merritt syndrome HP:0001028 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0011900 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0005306 biolink:PhenotypicFeature HP:0012329 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001937 biolink:PhenotypicFeature HP:0005520 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0031207 biolink:PhenotypicFeature HP:0100766 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001923 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0040213 biolink:PhenotypicFeature Orphanet:767 biolink:Disease Polyarteritis nodosa HP:0011121 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0031003 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0003390 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0002102 biolink:PhenotypicFeature Orphanet:141184 biolink:Disease Rapidly involuting congenital hemangioma HP:0001028 biolink:PhenotypicFeature HP:0007466 biolink:PhenotypicFeature HP:0007618 biolink:PhenotypicFeature HP:0031449 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0001015 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0100784 biolink:PhenotypicFeature HP:0410266 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0031207 biolink:PhenotypicFeature HP:0100578 biolink:PhenotypicFeature HP:0012329 biolink:PhenotypicFeature Orphanet:517 biolink:Disease Acute myelomonocytic leukemia HP:0001873 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0000168 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature Orphanet:318 biolink:Disease Acute erythroid leukemia HP:0001876 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0004828 biolink:PhenotypicFeature HP:0012133 biolink:PhenotypicFeature HP:0025035 biolink:PhenotypicFeature HP:0031020 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature Orphanet:130 biolink:Disease Brugada syndrome HP:0011712 biolink:PhenotypicFeature HP:0012251 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001663 biolink:PhenotypicFeature HP:0004751 biolink:PhenotypicFeature HP:0004755 biolink:PhenotypicFeature HP:0011704 biolink:PhenotypicFeature HP:0011705 biolink:PhenotypicFeature HP:0004308 biolink:PhenotypicFeature HP:0011715 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001695 biolink:PhenotypicFeature Orphanet:93430 biolink:Disease Multiple metaphyseal dysplasia HP:0000256 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0009601 biolink:PhenotypicFeature HP:0009836 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature Orphanet:289157 biolink:Disease Hypocalcemic vitamin D-dependent rickets HP:0002748 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0012052 biolink:PhenotypicFeature HP:0000867 biolink:PhenotypicFeature HP:0000886 biolink:PhenotypicFeature HP:0000897 biolink:PhenotypicFeature HP:0000920 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001281 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002148 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0002663 biolink:PhenotypicFeature HP:0002749 biolink:PhenotypicFeature HP:0002752 biolink:PhenotypicFeature HP:0002753 biolink:PhenotypicFeature HP:0002909 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0002980 biolink:PhenotypicFeature HP:0002982 biolink:PhenotypicFeature HP:0003020 biolink:PhenotypicFeature HP:0003029 biolink:PhenotypicFeature HP:0003106 biolink:PhenotypicFeature HP:0003165 biolink:PhenotypicFeature HP:0005042 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0010537 biolink:PhenotypicFeature HP:0010639 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001538 biolink:PhenotypicFeature HP:0002199 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature Orphanet:464453 biolink:Disease Acquired methemoglobinemia HP:0012119 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001941 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature Orphanet:361 biolink:Disease Familial glucocorticoid deficiency HP:0000826 biolink:PhenotypicFeature HP:0004319 biolink:PhenotypicFeature HP:0025451 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000027 biolink:PhenotypicFeature HP:0000851 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001325 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0002445 biolink:PhenotypicFeature HP:0100618 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0000846 biolink:PhenotypicFeature HP:0008163 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0007440 biolink:PhenotypicFeature HP:0011043 biolink:PhenotypicFeature HP:0012734 biolink:PhenotypicFeature HP:0031076 biolink:PhenotypicFeature HP:0031214 biolink:PhenotypicFeature HP:0000127 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002173 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0012432 biolink:PhenotypicFeature HP:0012605 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature Orphanet:134 biolink:Disease Beta-ketothiolase deficiency HP:0001941 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0002919 biolink:PhenotypicFeature HP:0011446 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001894 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0001993 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0003074 biolink:PhenotypicFeature HP:0007308 biolink:PhenotypicFeature HP:0012523 biolink:PhenotypicFeature HP:0012705 biolink:PhenotypicFeature HP:0500001 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:3261 biolink:Disease Autoimmune lymphoproliferative syndrome HP:0001744 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002730 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001890 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001904 biolink:PhenotypicFeature HP:0001971 biolink:PhenotypicFeature HP:0001973 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002851 biolink:PhenotypicFeature HP:0003237 biolink:PhenotypicFeature HP:0005404 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0030782 biolink:PhenotypicFeature HP:0000099 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001923 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002848 biolink:PhenotypicFeature HP:0002850 biolink:PhenotypicFeature HP:0002923 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature HP:0003261 biolink:PhenotypicFeature HP:0003453 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0003613 biolink:PhenotypicFeature HP:0004315 biolink:PhenotypicFeature HP:0004844 biolink:PhenotypicFeature HP:0005407 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012189 biolink:PhenotypicFeature HP:0012190 biolink:PhenotypicFeature HP:0012191 biolink:PhenotypicFeature HP:0012539 biolink:PhenotypicFeature HP:0030080 biolink:PhenotypicFeature HP:0031392 biolink:PhenotypicFeature HP:0031393 biolink:PhenotypicFeature HP:0040126 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature HP:0100827 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000854 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002583 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0002890 biolink:PhenotypicFeature HP:0005263 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0010619 biolink:PhenotypicFeature HP:0011107 biolink:PhenotypicFeature HP:0012490 biolink:PhenotypicFeature HP:0031020 biolink:PhenotypicFeature HP:0100648 biolink:PhenotypicFeature Orphanet:140286 biolink:Disease Secondary hypoparathyroidism due to impaired parathormon secretion HP:0000828 biolink:PhenotypicFeature HP:0000867 biolink:PhenotypicFeature HP:0040077 biolink:PhenotypicFeature Orphanet:1063 biolink:Disease Tufted angioma HP:0000975 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0011355 biolink:PhenotypicFeature HP:0000329 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0005548 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0010990 biolink:PhenotypicFeature HP:0011900 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0031490 biolink:PhenotypicFeature Orphanet:82 biolink:Disease Hereditary thrombophilia due to congenital antithrombin deficiency HP:0001976 biolink:PhenotypicFeature HP:0040246 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002625 biolink:PhenotypicFeature HP:0002638 biolink:PhenotypicFeature HP:0004831 biolink:PhenotypicFeature HP:0031437 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0012636 biolink:PhenotypicFeature HP:0030242 biolink:PhenotypicFeature HP:0030243 biolink:PhenotypicFeature HP:0030248 biolink:PhenotypicFeature HP:0200067 biolink:PhenotypicFeature HP:0005305 biolink:PhenotypicFeature Orphanet:160 biolink:Disease Castleman disease HP:0002716 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002729 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0025142 biolink:PhenotypicFeature HP:0030783 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0008940 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025066 biolink:PhenotypicFeature HP:0030157 biolink:PhenotypicFeature HP:0031500 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001723 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0006000 biolink:PhenotypicFeature HP:0011974 biolink:PhenotypicFeature HP:0012050 biolink:PhenotypicFeature Orphanet:552 biolink:Disease MODY HP:0000833 biolink:PhenotypicFeature HP:0003074 biolink:PhenotypicFeature HP:0003076 biolink:PhenotypicFeature HP:0004924 biolink:PhenotypicFeature HP:0030794 biolink:PhenotypicFeature HP:0040214 biolink:PhenotypicFeature HP:0040216 biolink:PhenotypicFeature HP:0040217 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000825 biolink:PhenotypicFeature HP:0000831 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0001998 biolink:PhenotypicFeature HP:0008255 biolink:PhenotypicFeature HP:0025502 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001738 biolink:PhenotypicFeature HP:0002594 biolink:PhenotypicFeature HP:0012028 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001953 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature Orphanet:824 biolink:Disease Primary myelofibrosis HP:0005561 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001871 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0012143 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0025142 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001894 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0001977 biolink:PhenotypicFeature HP:0001978 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0004447 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0011134 biolink:PhenotypicFeature HP:0030157 biolink:PhenotypicFeature HP:0031020 biolink:PhenotypicFeature HP:0031364 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0004377 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature Orphanet:520 biolink:Disease Acute promyelocytic leukemia HP:0000225 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0031020 biolink:PhenotypicFeature HP:0031035 biolink:PhenotypicFeature HP:0031364 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0010280 biolink:PhenotypicFeature HP:0011900 biolink:PhenotypicFeature HP:0025420 biolink:PhenotypicFeature HP:0030140 biolink:PhenotypicFeature HP:0030955 biolink:PhenotypicFeature HP:0031245 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0100608 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature Orphanet:521406 biolink:Disease Dystonia-parkinsonism-hypermanganesemia syndrome HP:0000253 biolink:PhenotypicFeature HP:0000338 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002483 biolink:PhenotypicFeature HP:0002505 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0012048 biolink:PhenotypicFeature HP:0012407 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0032097 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature Orphanet:300751 biolink:Disease Familial dilated cardiomyopathy with conduction defect due to LMNA mutation HP:0001644 biolink:PhenotypicFeature HP:0031546 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001637 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0005110 biolink:PhenotypicFeature HP:0005162 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0003560 biolink:PhenotypicFeature HP:0004308 biolink:PhenotypicFeature HP:0004749 biolink:PhenotypicFeature HP:0004755 biolink:PhenotypicFeature HP:0012722 biolink:PhenotypicFeature HP:0012723 biolink:PhenotypicFeature HP:0031409 biolink:PhenotypicFeature Orphanet:464318 biolink:Disease Verrucous hemangioma HP:0001028 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0011356 biolink:PhenotypicFeature HP:0012740 biolink:PhenotypicFeature HP:0025092 biolink:PhenotypicFeature HP:0045059 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature Orphanet:3426 biolink:Disease Double outlet right ventricle HP:0001719 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0045025 biolink:PhenotypicFeature HP:3000022 biolink:PhenotypicFeature HP:0000829 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001660 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0004935 biolink:PhenotypicFeature HP:0010515 biolink:PhenotypicFeature HP:0030853 biolink:PhenotypicFeature Orphanet:1209 biolink:Disease Tricuspid atresia HP:0011662 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001669 biolink:PhenotypicFeature HP:0004762 biolink:PhenotypicFeature HP:0005301 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0004935 biolink:PhenotypicFeature Orphanet:416 biolink:Disease Primary hyperoxaluria HP:0003159 biolink:PhenotypicFeature HP:0008672 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0004417 biolink:PhenotypicFeature HP:0005789 biolink:PhenotypicFeature HP:0006479 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011072 biolink:PhenotypicFeature HP:0011506 biolink:PhenotypicFeature HP:0012072 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0012722 biolink:PhenotypicFeature HP:0025324 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0031981 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature HP:0001063 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0025520 biolink:PhenotypicFeature Orphanet:3011 biolink:Disease Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome HP:0000510 biolink:PhenotypicFeature HP:0001141 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0008610 biolink:PhenotypicFeature Orphanet:370968 biolink:Disease Congenital muscular dystrophy with intellectual disability HP:0001249 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0030046 biolink:PhenotypicFeature HP:0030099 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0003325 biolink:PhenotypicFeature HP:0007015 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0030197 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003327 biolink:PhenotypicFeature HP:0003549 biolink:PhenotypicFeature HP:0003712 biolink:PhenotypicFeature HP:0004637 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature HP:0007361 biolink:PhenotypicFeature HP:0008443 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0040173 biolink:PhenotypicFeature Orphanet:3260 biolink:Disease Idiopathic hypereosinophilic syndrome HP:0001880 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0031323 biolink:PhenotypicFeature HP:0100724 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001019 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001217 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001727 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001785 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001894 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002583 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0005115 biolink:PhenotypicFeature HP:0005547 biolink:PhenotypicFeature HP:0006253 biolink:PhenotypicFeature HP:0006580 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008940 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0011897 biolink:PhenotypicFeature HP:0011974 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025289 biolink:PhenotypicFeature HP:0030151 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0100665 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0200029 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature HP:0200123 biolink:PhenotypicFeature Orphanet:927 biolink:Disease Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0001987 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001575 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0003217 biolink:PhenotypicFeature HP:0003348 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0008281 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000725 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001271 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0006582 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature HP:0010550 biolink:PhenotypicFeature HP:0031258 biolink:PhenotypicFeature Orphanet:324313 biolink:Disease 9p13 microdeletion syndrome HP:0000308 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0003763 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:3000022 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001795 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0010489 biolink:PhenotypicFeature HP:0011330 biolink:PhenotypicFeature Orphanet:397695 biolink:Disease 3q27.3 microdeletion syndrome HP:0000160 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000385 biolink:PhenotypicFeature HP:0000417 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0001575 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000746 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0007074 biolink:PhenotypicFeature Orphanet:331 biolink:Disease Congenital factor XIII deficiency HP:0008357 biolink:PhenotypicFeature HP:0011884 biolink:PhenotypicFeature HP:0030657 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0001933 biolink:PhenotypicFeature HP:0005261 biolink:PhenotypicFeature HP:0007420 biolink:PhenotypicFeature HP:0012233 biolink:PhenotypicFeature HP:0030140 biolink:PhenotypicFeature HP:0000132 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0001058 biolink:PhenotypicFeature HP:0001934 biolink:PhenotypicFeature HP:0004846 biolink:PhenotypicFeature HP:0006298 biolink:PhenotypicFeature HP:0011889 biolink:PhenotypicFeature HP:0011891 biolink:PhenotypicFeature HP:0030137 biolink:PhenotypicFeature HP:0031364 biolink:PhenotypicFeature HP:0040232 biolink:PhenotypicFeature HP:0200067 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0002037 biolink:PhenotypicFeature HP:0012324 biolink:PhenotypicFeature Orphanet:505216 biolink:Disease 3-methylglutaconic aciduria type 9 HP:0000718 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001533 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0003535 biolink:PhenotypicFeature HP:0007204 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011925 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature Orphanet:445038 biolink:Disease 3-methylglutaconic aciduria type 7 HP:0000107 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0003535 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002179 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0007153 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0410256 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001998 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature Orphanet:86884 biolink:Disease Subcutaneous panniculitis-like T-cell lymphoma HP:0012490 biolink:PhenotypicFeature HP:0030350 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0003256 biolink:PhenotypicFeature HP:0012156 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:20 biolink:Disease 3-hydroxy-3-methylglutaric aciduria HP:0001942 biolink:PhenotypicFeature HP:0001958 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0003344 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001988 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002572 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0006561 biolink:PhenotypicFeature HP:0006582 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001894 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002919 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001325 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001695 biolink:PhenotypicFeature HP:0001735 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002352 biolink:PhenotypicFeature HP:0011099 biolink:PhenotypicFeature Orphanet:45453 biolink:Disease Incessant infant ventricular tachycardia HP:0004756 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001695 biolink:PhenotypicFeature HP:0006677 biolink:PhenotypicFeature HP:0011710 biolink:PhenotypicFeature HP:0031595 biolink:PhenotypicFeature HP:0001557 biolink:PhenotypicFeature HP:0004755 biolink:PhenotypicFeature HP:0005152 biolink:PhenotypicFeature HP:0009729 biolink:PhenotypicFeature HP:0001716 biolink:PhenotypicFeature HP:0025169 biolink:PhenotypicFeature Orphanet:911 biolink:Disease Combined immunodeficiency due to ZAP70 deficiency HP:0002718 biolink:PhenotypicFeature HP:0004429 biolink:PhenotypicFeature HP:0005390 biolink:PhenotypicFeature HP:0031381 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0004798 biolink:PhenotypicFeature HP:0005415 biolink:PhenotypicFeature HP:0005422 biolink:PhenotypicFeature HP:0009098 biolink:PhenotypicFeature HP:0200117 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0002583 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002728 biolink:PhenotypicFeature HP:0002733 biolink:PhenotypicFeature HP:0002840 biolink:PhenotypicFeature HP:0005406 biolink:PhenotypicFeature HP:0010280 biolink:PhenotypicFeature HP:0011274 biolink:PhenotypicFeature HP:0100827 biolink:PhenotypicFeature HP:0001890 biolink:PhenotypicFeature HP:0001973 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0005523 biolink:PhenotypicFeature Orphanet:3325 biolink:Disease Heparin-induced thrombocytopenia HP:0001907 biolink:PhenotypicFeature HP:0001973 biolink:PhenotypicFeature HP:0100724 biolink:PhenotypicFeature HP:0002625 biolink:PhenotypicFeature HP:0003144 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature HP:0012649 biolink:PhenotypicFeature HP:0030248 biolink:PhenotypicFeature HP:0040231 biolink:PhenotypicFeature Orphanet:469 biolink:Disease Hereditary fructose intolerance HP:0002027 biolink:PhenotypicFeature HP:0012545 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001069 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002148 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002918 biolink:PhenotypicFeature HP:0003256 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0012051 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0100626 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature Orphanet:348 biolink:Disease Fructose-1,6-bisphosphatase deficiency HP:0001942 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0003162 biolink:PhenotypicFeature HP:0004913 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001946 biolink:PhenotypicFeature HP:0001998 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0002876 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003265 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0004879 biolink:PhenotypicFeature HP:0005949 biolink:PhenotypicFeature HP:0006582 biolink:PhenotypicFeature HP:0040301 biolink:PhenotypicFeature HP:0003348 biolink:PhenotypicFeature Orphanet:572 biolink:Disease Immunodeficiency by defective expression of MHC class II HP:0031390 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0004798 biolink:PhenotypicFeature HP:0005354 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0002726 biolink:PhenotypicFeature HP:0002728 biolink:PhenotypicFeature HP:0002841 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004385 biolink:PhenotypicFeature HP:0004429 biolink:PhenotypicFeature HP:0005353 biolink:PhenotypicFeature HP:0005368 biolink:PhenotypicFeature HP:0005386 biolink:PhenotypicFeature HP:0005401 biolink:PhenotypicFeature HP:0005407 biolink:PhenotypicFeature HP:0012384 biolink:PhenotypicFeature HP:0025347 biolink:PhenotypicFeature HP:0030991 biolink:PhenotypicFeature HP:0200124 biolink:PhenotypicFeature HP:0000371 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001890 biolink:PhenotypicFeature HP:0001904 biolink:PhenotypicFeature HP:0001973 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003139 biolink:PhenotypicFeature HP:0005403 biolink:PhenotypicFeature HP:0031381 biolink:PhenotypicFeature HP:0031394 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature Orphanet:276 biolink:Disease T-B+ severe combined immunodeficiency due to gamma chain deficiency HP:0001888 biolink:PhenotypicFeature HP:0001954 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0005407 biolink:PhenotypicFeature HP:0010701 biolink:PhenotypicFeature HP:0031381 biolink:PhenotypicFeature HP:0031397 biolink:PhenotypicFeature HP:0040218 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0002720 biolink:PhenotypicFeature HP:0004315 biolink:PhenotypicFeature HP:0005390 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0031545 biolink:PhenotypicFeature HP:0045080 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002728 biolink:PhenotypicFeature HP:0002732 biolink:PhenotypicFeature HP:0005353 biolink:PhenotypicFeature HP:0005376 biolink:PhenotypicFeature HP:0005406 biolink:PhenotypicFeature HP:0005428 biolink:PhenotypicFeature HP:0009098 biolink:PhenotypicFeature HP:0011370 biolink:PhenotypicFeature HP:0030813 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0003237 biolink:PhenotypicFeature HP:0005523 biolink:PhenotypicFeature Orphanet:358 biolink:Disease Gitelman syndrome HP:0002900 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002632 biolink:PhenotypicFeature HP:0002917 biolink:PhenotypicFeature HP:0000017 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000128 biolink:PhenotypicFeature HP:0000805 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000833 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002918 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0030083 biolink:PhenotypicFeature HP:0200114 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000097 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0000934 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001663 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001891 biolink:PhenotypicFeature HP:0001947 biolink:PhenotypicFeature HP:0001953 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0001994 biolink:PhenotypicFeature HP:0001997 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002189 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002619 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002894 biolink:PhenotypicFeature HP:0002897 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0005135 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0006789 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0011736 biolink:PhenotypicFeature HP:0012248 biolink:PhenotypicFeature HP:0012250 biolink:PhenotypicFeature HP:0012364 biolink:PhenotypicFeature HP:0025072 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0040168 biolink:PhenotypicFeature HP:0100324 biolink:PhenotypicFeature HP:0100647 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature Orphanet:529665 biolink:Disease Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome HP:0001250 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003698 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature Orphanet:486 biolink:Disease Autosomal dominant severe congenital neutropenia HP:0001875 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0004429 biolink:PhenotypicFeature HP:0000155 biolink:PhenotypicFeature HP:0000230 biolink:PhenotypicFeature HP:0000704 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0004798 biolink:PhenotypicFeature HP:0005425 biolink:PhenotypicFeature HP:0011107 biolink:PhenotypicFeature HP:0012311 biolink:PhenotypicFeature HP:0012384 biolink:PhenotypicFeature HP:0025439 biolink:PhenotypicFeature HP:0410018 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0001909 biolink:PhenotypicFeature HP:0001915 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0003453 biolink:PhenotypicFeature HP:0004808 biolink:PhenotypicFeature HP:0006480 biolink:PhenotypicFeature HP:0006721 biolink:PhenotypicFeature HP:0025452 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature Orphanet:275 biolink:Disease Severe combined immunodeficiency due to DCLRE1C deficiency HP:0002718 biolink:PhenotypicFeature HP:0002720 biolink:PhenotypicFeature HP:0004315 biolink:PhenotypicFeature HP:0005390 biolink:PhenotypicFeature HP:0200043 biolink:PhenotypicFeature HP:0200117 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0005364 biolink:PhenotypicFeature HP:0005681 biolink:PhenotypicFeature HP:0009098 biolink:PhenotypicFeature HP:0011107 biolink:PhenotypicFeature HP:0011274 biolink:PhenotypicFeature HP:0031123 biolink:PhenotypicFeature HP:0045080 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature Orphanet:52368 biolink:Disease Mohr-Tranebjaerg syndrome HP:0000375 biolink:PhenotypicFeature HP:0000399 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001751 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0004463 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007325 biolink:PhenotypicFeature HP:0007377 biolink:PhenotypicFeature HP:0008596 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0012048 biolink:PhenotypicFeature HP:0000551 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000603 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000751 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002186 biolink:PhenotypicFeature HP:0002340 biolink:PhenotypicFeature HP:0002362 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0004373 biolink:PhenotypicFeature HP:0004432 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0011999 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature Orphanet:370959 biolink:Disease Congenital muscular dystrophy with cerebellar involvement HP:0003712 biolink:PhenotypicFeature HP:0007204 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007260 biolink:PhenotypicFeature HP:0007314 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0000485 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000525 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002085 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002350 biolink:PhenotypicFeature HP:0006899 biolink:PhenotypicFeature HP:0006955 biolink:PhenotypicFeature HP:0012110 biolink:PhenotypicFeature HP:0012695 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003741 biolink:PhenotypicFeature HP:0030046 biolink:PhenotypicFeature HP:0030099 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0002198 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0002365 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0003707 biolink:PhenotypicFeature Orphanet:101039 biolink:Disease Female restricted epilepsy with intellectual disability HP:0002373 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0011169 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0007270 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011172 biolink:PhenotypicFeature HP:0040168 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0100738 biolink:PhenotypicFeature Orphanet:163985 biolink:Disease Hyperekplexia-epilepsy syndrome HP:0001276 biolink:PhenotypicFeature HP:0002267 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0007333 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0012018 biolink:PhenotypicFeature HP:0200134 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature Orphanet:1692 biolink:Disease Mosaic trisomy 1 HP:0010880 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0001233 biolink:PhenotypicFeature HP:0012553 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0007759 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000803 biolink:PhenotypicFeature HP:0007291 biolink:PhenotypicFeature HP:0002280 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0001188 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0009943 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0100040 biolink:PhenotypicFeature HP:0010344 biolink:PhenotypicFeature HP:0001837 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003244 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0010511 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0007911 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000188 biolink:PhenotypicFeature HP:0001032 biolink:PhenotypicFeature HP:0002943 biolink:PhenotypicFeature HP:0045086 biolink:PhenotypicFeature HP:0004935 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0001195 biolink:PhenotypicFeature HP:0000237 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0040019 biolink:PhenotypicFeature HP:0100839 biolink:PhenotypicFeature Orphanet:33364 biolink:Disease Trichothiodystrophy HP:0000028 biolink:PhenotypicFeature HP:0000133 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000320 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000546 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000608 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001197 biolink:PhenotypicFeature HP:0001217 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001338 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001598 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001807 biolink:PhenotypicFeature HP:0001808 biolink:PhenotypicFeature HP:0001809 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002293 biolink:PhenotypicFeature HP:0002299 biolink:PhenotypicFeature HP:0002562 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0002942 biolink:PhenotypicFeature HP:0003079 biolink:PhenotypicFeature HP:0003139 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0006538 biolink:PhenotypicFeature HP:0006970 biolink:PhenotypicFeature HP:0007034 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007266 biolink:PhenotypicFeature HP:0007381 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0007519 biolink:PhenotypicFeature HP:0007587 biolink:PhenotypicFeature HP:0007633 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008386 biolink:PhenotypicFeature HP:0008391 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010551 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0012760 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature HP:0025428 biolink:PhenotypicFeature HP:0025548 biolink:PhenotypicFeature HP:0045055 biolink:PhenotypicFeature HP:0100275 biolink:PhenotypicFeature HP:0410219 biolink:PhenotypicFeature Orphanet:79318 biolink:Disease PMM2-CDG HP:0000218 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0007552 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000091 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001929 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001976 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002280 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0002925 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010463 biolink:PhenotypicFeature HP:0011443 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature HP:0011858 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0012509 biolink:PhenotypicFeature HP:0012882 biolink:PhenotypicFeature HP:0030146 biolink:PhenotypicFeature HP:0030609 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002625 biolink:PhenotypicFeature HP:0012050 biolink:PhenotypicFeature HP:0031404 biolink:PhenotypicFeature HP:0040238 biolink:PhenotypicFeature Orphanet:482601 biolink:Disease Adenylosuccinate synthetase-like 1-related distal myopathy HP:0002317 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0031108 biolink:PhenotypicFeature HP:0008959 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0030051 biolink:PhenotypicFeature HP:0007210 biolink:PhenotypicFeature HP:0009129 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0009050 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0009072 biolink:PhenotypicFeature HP:0002200 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0003731 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature Orphanet:482606 biolink:Disease X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome Orphanet:45448 biolink:Disease Miyoshi myopathy HP:0007126 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0011399 biolink:PhenotypicFeature HP:0200101 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0003738 biolink:PhenotypicFeature HP:0008963 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0031108 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature HP:0003731 biolink:PhenotypicFeature HP:0003749 biolink:PhenotypicFeature HP:0003698 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0007149 biolink:PhenotypicFeature HP:0008954 biolink:PhenotypicFeature HP:0003547 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature Orphanet:96149 biolink:Disease Distal monosomy 12q HP:0002194 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0009437 biolink:PhenotypicFeature HP:0012741 biolink:PhenotypicFeature HP:0004904 biolink:PhenotypicFeature HP:0000113 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0009904 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000171 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001833 biolink:PhenotypicFeature HP:0011407 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0008770 biolink:PhenotypicFeature HP:0000742 biolink:PhenotypicFeature HP:0000086 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0005129 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature HP:0007573 biolink:PhenotypicFeature HP:0008513 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000161 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature HP:0002032 biolink:PhenotypicFeature HP:0002247 biolink:PhenotypicFeature HP:0001734 biolink:PhenotypicFeature HP:0005912 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0005819 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0006533 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002003 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature Orphanet:63273 biolink:Disease Distal myopathy with posterior leg and anterior hand involvement HP:0031177 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0008954 biolink:PhenotypicFeature HP:0008959 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0006389 biolink:PhenotypicFeature HP:0012515 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0003738 biolink:PhenotypicFeature HP:0002600 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0030200 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0006135 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature Orphanet:98897 biolink:Disease Oculopharyngodistal myopathy HP:0000590 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0007838 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0000301 biolink:PhenotypicFeature HP:0008376 biolink:PhenotypicFeature HP:0200136 biolink:PhenotypicFeature HP:0009063 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0007149 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0000408 biolink:PhenotypicFeature HP:0009073 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002058 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0000183 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002100 biolink:PhenotypicFeature HP:0430015 biolink:PhenotypicFeature HP:0001604 biolink:PhenotypicFeature HP:0008756 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:3000005 biolink:PhenotypicFeature HP:0030192 biolink:PhenotypicFeature HP:0008963 biolink:PhenotypicFeature HP:0008959 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature HP:0010550 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:3000010 biolink:PhenotypicFeature HP:0031162 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature Orphanet:98912 biolink:Disease Late-onset distal myopathy, Markesbery-Griggs type HP:0030198 biolink:PhenotypicFeature HP:0031374 biolink:PhenotypicFeature HP:0031189 biolink:PhenotypicFeature HP:0009073 biolink:PhenotypicFeature HP:0002505 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0008969 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0011808 biolink:PhenotypicFeature HP:0009072 biolink:PhenotypicFeature HP:0009005 biolink:PhenotypicFeature HP:0009077 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature HP:0008954 biolink:PhenotypicFeature HP:0003325 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0005162 biolink:PhenotypicFeature HP:0012722 biolink:PhenotypicFeature Orphanet:98909 biolink:Disease Desminopathy HP:0009053 biolink:PhenotypicFeature HP:0003722 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0005157 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001678 biolink:PhenotypicFeature HP:0005115 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0003323 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0030192 biolink:PhenotypicFeature HP:0030196 biolink:PhenotypicFeature HP:0001645 biolink:PhenotypicFeature HP:0002522 biolink:PhenotypicFeature HP:0003327 biolink:PhenotypicFeature HP:0005659 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature Orphanet:2929 biolink:Disease Juvenile polyposis syndrome HP:0005266 biolink:PhenotypicFeature HP:0012198 biolink:PhenotypicFeature HP:0100896 biolink:PhenotypicFeature HP:0004784 biolink:PhenotypicFeature HP:0004795 biolink:PhenotypicFeature HP:0002573 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002576 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0100822 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0012432 biolink:PhenotypicFeature HP:0002243 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0001012 biolink:PhenotypicFeature HP:0010797 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002003 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0004406 biolink:PhenotypicFeature HP:0100579 biolink:PhenotypicFeature HP:0100761 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0030049 biolink:PhenotypicFeature HP:0004941 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0003003 biolink:PhenotypicFeature HP:0012126 biolink:PhenotypicFeature HP:0002894 biolink:PhenotypicFeature HP:0100833 biolink:PhenotypicFeature HP:0004390 biolink:PhenotypicFeature HP:0030256 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0012050 biolink:PhenotypicFeature HP:0003075 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature HP:0100759 biolink:PhenotypicFeature HP:0006548 biolink:PhenotypicFeature HP:0006574 biolink:PhenotypicFeature HP:0002408 biolink:PhenotypicFeature HP:0040231 biolink:PhenotypicFeature HP:0007378 biolink:PhenotypicFeature Orphanet:99818 biolink:Disease Turcot syndrome with polyposis HP:0003003 biolink:PhenotypicFeature HP:0030692 biolink:PhenotypicFeature HP:0005227 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0002176 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0012174 biolink:PhenotypicFeature HP:0200040 biolink:PhenotypicFeature HP:0002885 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature HP:0002888 biolink:PhenotypicFeature HP:0009592 biolink:PhenotypicFeature HP:0009733 biolink:PhenotypicFeature HP:0007129 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002890 biolink:PhenotypicFeature HP:0031459 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002573 biolink:PhenotypicFeature HP:0002249 biolink:PhenotypicFeature HP:0011512 biolink:PhenotypicFeature HP:0002884 biolink:PhenotypicFeature HP:0100245 biolink:PhenotypicFeature HP:0200008 biolink:PhenotypicFeature HP:0001137 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0030553 biolink:PhenotypicFeature HP:0001085 biolink:PhenotypicFeature HP:0100006 biolink:PhenotypicFeature HP:0002895 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0030434 biolink:PhenotypicFeature HP:0001909 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0001103 biolink:PhenotypicFeature HP:0100014 biolink:PhenotypicFeature Orphanet:329971 biolink:Disease Generalized juvenile polyposis/juvenile polyposis coli HP:0001892 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002573 biolink:PhenotypicFeature HP:0001017 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0005227 biolink:PhenotypicFeature HP:0004394 biolink:PhenotypicFeature HP:0030256 biolink:PhenotypicFeature HP:0100896 biolink:PhenotypicFeature HP:0004783 biolink:PhenotypicFeature Orphanet:79076 biolink:Disease Juvenile polyposis of infancy HP:0002239 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0002243 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0001031 biolink:PhenotypicFeature HP:0010797 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002003 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0004390 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002573 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002249 biolink:PhenotypicFeature HP:0005505 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0002584 biolink:PhenotypicFeature HP:0002576 biolink:PhenotypicFeature HP:0002035 biolink:PhenotypicFeature HP:0100759 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006608 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0005227 biolink:PhenotypicFeature HP:0030257 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0010174 biolink:PhenotypicFeature Orphanet:454887 biolink:Disease Corticobasal syndrome HP:0007158 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0000743 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0030217 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0002304 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0045084 biolink:PhenotypicFeature HP:0007301 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature Orphanet:240094 biolink:Disease Progressive supranuclear palsy-pure akinesia with gait freezing syndrome HP:0031825 biolink:PhenotypicFeature HP:0031434 biolink:PhenotypicFeature HP:0031908 biolink:PhenotypicFeature HP:0005329 biolink:PhenotypicFeature HP:0001621 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature HP:0031814 biolink:PhenotypicFeature HP:0031937 biolink:PhenotypicFeature HP:0002304 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000570 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0007311 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature HP:0002464 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0000571 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0000643 biolink:PhenotypicFeature HP:0000511 biolink:PhenotypicFeature HP:0002068 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature Orphanet:240103 biolink:Disease Progressive supranuclear palsy-corticobasal syndrome HP:0002186 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0007158 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0000514 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002374 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0000511 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0004373 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0000743 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0030217 biolink:PhenotypicFeature HP:0045084 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0007885 biolink:PhenotypicFeature HP:0006961 biolink:PhenotypicFeature HP:0001188 biolink:PhenotypicFeature HP:0000570 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0000751 biolink:PhenotypicFeature HP:0002548 biolink:PhenotypicFeature Orphanet:240112 biolink:Disease Progressive supranuclear palsy-progressive non-fluent aphasia syndrome HP:0011098 biolink:PhenotypicFeature HP:0006977 biolink:PhenotypicFeature HP:0030391 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002549 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0031434 biolink:PhenotypicFeature HP:0007158 biolink:PhenotypicFeature HP:0000511 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0030784 biolink:PhenotypicFeature HP:0025268 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0030217 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature Orphanet:329308 biolink:Disease Fatty acid hydroxylase-associated neurodegeneration HP:0007020 biolink:PhenotypicFeature HP:0002478 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0007153 biolink:PhenotypicFeature HP:0007325 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0007924 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0030584 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0000605 biolink:PhenotypicFeature HP:0040168 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature HP:0006827 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0002505 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature HP:0007199 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature HP:0002425 biolink:PhenotypicFeature HP:0002427 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0007302 biolink:PhenotypicFeature Orphanet:99750 biolink:Disease Atypical progressive supranuclear palsy syndrome HP:0000597 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0030188 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0000719 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0004373 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0007076 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0031825 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0010526 biolink:PhenotypicFeature HP:0005329 biolink:PhenotypicFeature HP:0000643 biolink:PhenotypicFeature HP:0025330 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0006977 biolink:PhenotypicFeature HP:0010522 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature Orphanet:240085 biolink:Disease Progressive supranuclear palsy-parkinsonism syndrome HP:0002067 biolink:PhenotypicFeature HP:0006921 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002068 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002548 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0010794 biolink:PhenotypicFeature HP:0000511 biolink:PhenotypicFeature HP:0000570 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature Orphanet:240071 biolink:Disease Classic progressive supranuclear palsy syndrome HP:0002172 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature HP:0000514 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0030953 biolink:PhenotypicFeature HP:0000633 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000643 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0007086 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0007164 biolink:PhenotypicFeature HP:0000605 biolink:PhenotypicFeature HP:0002068 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0006921 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0000511 biolink:PhenotypicFeature HP:0002530 biolink:PhenotypicFeature HP:0002304 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0007158 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0000570 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0002548 biolink:PhenotypicFeature Orphanet:440437 biolink:Disease Familial colorectal cancer Type X HP:0002027 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0100843 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0100743 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0012113 biolink:PhenotypicFeature HP:0010524 biolink:PhenotypicFeature HP:0100576 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0100835 biolink:PhenotypicFeature HP:0100571 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0010526 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002894 biolink:PhenotypicFeature HP:0010622 biolink:PhenotypicFeature HP:0100031 biolink:PhenotypicFeature HP:0003006 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0100615 biolink:PhenotypicFeature HP:0006725 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature HP:0010786 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0010784 biolink:PhenotypicFeature HP:0012126 biolink:PhenotypicFeature HP:0100013 biolink:PhenotypicFeature HP:0100273 biolink:PhenotypicFeature HP:0009726 biolink:PhenotypicFeature Orphanet:506353 biolink:Disease Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0007020 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0008848 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0008376 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002191 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0030625 biolink:PhenotypicFeature HP:0007814 biolink:PhenotypicFeature HP:0007199 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0030182 biolink:PhenotypicFeature HP:0007220 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0007768 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature Orphanet:100991 biolink:Disease Autosomal dominant spastic paraplegia type 10 HP:0002061 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0009129 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0031958 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0008075 biolink:PhenotypicFeature HP:0006986 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0006886 biolink:PhenotypicFeature HP:0007350 biolink:PhenotypicFeature HP:0000012 biolink:PhenotypicFeature HP:0002619 biolink:PhenotypicFeature HP:0005679 biolink:PhenotypicFeature HP:0008969 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0005340 biolink:PhenotypicFeature Orphanet:466722 biolink:Disease Autosomal recessive spastic paraplegia type 77 HP:0007020 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0010549 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0012407 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007210 biolink:PhenotypicFeature HP:0002505 biolink:PhenotypicFeature HP:0003800 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000675 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0002068 biolink:PhenotypicFeature HP:0002882 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0008110 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0008689 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0025488 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0002268 biolink:PhenotypicFeature Orphanet:93952 biolink:Disease X-linked intellectual disability, Hedera type HP:0001249 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002600 biolink:PhenotypicFeature HP:0007076 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0012391 biolink:PhenotypicFeature HP:0000338 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001621 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001848 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002186 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002345 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003438 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0010527 biolink:PhenotypicFeature HP:0010529 biolink:PhenotypicFeature HP:0011812 biolink:PhenotypicFeature Orphanet:459033 biolink:Disease Ataxia-oculomotor apraxia type 4 HP:0003474 biolink:PhenotypicFeature HP:0003560 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0002442 biolink:PhenotypicFeature HP:0010522 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001009 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0000570 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0001780 biolink:PhenotypicFeature HP:0008955 biolink:PhenotypicFeature Orphanet:79135 biolink:Disease Episodic ataxia type 3 HP:0002131 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0002411 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature Orphanet:171622 biolink:Disease Autosomal recessive spastic paraplegia type 32 HP:0008278 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0007361 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0007133 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002191 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature Orphanet:730 biolink:Disease Autosomal dominant polycystic kidney disease HP:0000083 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0001407 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0012213 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0012591 biolink:PhenotypicFeature HP:0012592 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000105 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001737 biolink:PhenotypicFeature HP:0002616 biolink:PhenotypicFeature HP:0004944 biolink:PhenotypicFeature HP:0006557 biolink:PhenotypicFeature HP:0011004 biolink:PhenotypicFeature HP:0012207 biolink:PhenotypicFeature HP:0012330 biolink:PhenotypicFeature HP:0100702 biolink:PhenotypicFeature HP:0011760 biolink:PhenotypicFeature Orphanet:930 biolink:Disease Idiopathic achalasia HP:0002015 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0012387 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0002100 biolink:PhenotypicFeature HP:0004395 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0031085 biolink:PhenotypicFeature Orphanet:42062 biolink:Disease Iminoglycinuria HP:0003080 biolink:PhenotypicFeature HP:0003108 biolink:PhenotypicFeature HP:0003137 biolink:PhenotypicFeature HP:0002154 biolink:PhenotypicFeature HP:0003260 biolink:PhenotypicFeature HP:0008358 biolink:PhenotypicFeature Orphanet:33475 biolink:Disease Meningococcal meningitis HP:0001945 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0011972 biolink:PhenotypicFeature HP:0012229 biolink:PhenotypicFeature HP:0025258 biolink:PhenotypicFeature HP:0031179 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002587 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000236 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001085 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0011880 biolink:PhenotypicFeature HP:0031273 biolink:PhenotypicFeature Orphanet:576 biolink:Disease Mucolipidosis type II HP:0000212 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001538 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0002474 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006596 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0031650 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0002111 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0010444 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0045027 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000586 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001540 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001646 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0003273 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0006203 biolink:PhenotypicFeature HP:0006248 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006467 biolink:PhenotypicFeature HP:0007421 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0010307 biolink:PhenotypicFeature HP:0011314 biolink:PhenotypicFeature HP:0011359 biolink:PhenotypicFeature HP:0011364 biolink:PhenotypicFeature HP:0012389 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature Orphanet:976 biolink:Disease Adenine phosphoribosyltransferase deficiency HP:0012379 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000016 biolink:PhenotypicFeature HP:0000019 biolink:PhenotypicFeature HP:0000791 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0005110 biolink:PhenotypicFeature HP:0011848 biolink:PhenotypicFeature HP:0012587 biolink:PhenotypicFeature HP:0030157 biolink:PhenotypicFeature HP:0100520 biolink:PhenotypicFeature Orphanet:57145 biolink:Disease SUNCT syndrome HP:0009926 biolink:PhenotypicFeature HP:0030953 biolink:PhenotypicFeature HP:0032148 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000711 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001069 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0031284 biolink:PhenotypicFeature HP:0031417 biolink:PhenotypicFeature HP:0031731 biolink:PhenotypicFeature HP:0100661 biolink:PhenotypicFeature HP:0000282 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000616 biolink:PhenotypicFeature HP:0001041 biolink:PhenotypicFeature HP:0001742 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0030766 biolink:PhenotypicFeature HP:0040264 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature Orphanet:49042 biolink:Disease Dentinogenesis imperfecta HP:0006350 biolink:PhenotypicFeature HP:0006486 biolink:PhenotypicFeature HP:0000683 biolink:PhenotypicFeature HP:0000694 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0006282 biolink:PhenotypicFeature HP:0006286 biolink:PhenotypicFeature HP:0006479 biolink:PhenotypicFeature HP:0010299 biolink:PhenotypicFeature HP:0011084 biolink:PhenotypicFeature HP:0025124 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001592 biolink:PhenotypicFeature HP:0006094 biolink:PhenotypicFeature HP:0006335 biolink:PhenotypicFeature HP:0006336 biolink:PhenotypicFeature HP:0010485 biolink:PhenotypicFeature HP:0045086 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0003010 biolink:PhenotypicFeature Orphanet:70588 biolink:Disease Meconium aspiration syndrome HP:0002098 biolink:PhenotypicFeature HP:0005828 biolink:PhenotypicFeature HP:0011410 biolink:PhenotypicFeature HP:0025116 biolink:PhenotypicFeature HP:0031169 biolink:PhenotypicFeature HP:0031860 biolink:PhenotypicFeature HP:0031983 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001788 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature HP:0008071 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0012420 biolink:PhenotypicFeature HP:0012768 biolink:PhenotypicFeature HP:0025421 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0010444 biolink:PhenotypicFeature Orphanet:60015 biolink:Disease Enlarged parietal foramina HP:0002695 biolink:PhenotypicFeature HP:0000932 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0012721 biolink:PhenotypicFeature HP:0100809 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000894 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0002085 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0002762 biolink:PhenotypicFeature HP:0007385 biolink:PhenotypicFeature HP:0008497 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0012480 biolink:PhenotypicFeature HP:0040197 biolink:PhenotypicFeature HP:0410030 biolink:PhenotypicFeature Orphanet:79126 biolink:Disease Acute interstitial pneumonia HP:0002094 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0025177 biolink:PhenotypicFeature HP:0025179 biolink:PhenotypicFeature HP:0025392 biolink:PhenotypicFeature HP:0025393 biolink:PhenotypicFeature HP:0030879 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030830 biolink:PhenotypicFeature HP:0031246 biolink:PhenotypicFeature HP:0045051 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0012398 biolink:PhenotypicFeature HP:0031631 biolink:PhenotypicFeature HP:0031851 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature Orphanet:75249 biolink:Disease Familial isolated restrictive cardiomyopathy HP:0005162 biolink:PhenotypicFeature HP:0030718 biolink:PhenotypicFeature HP:0030950 biolink:PhenotypicFeature HP:0031295 biolink:PhenotypicFeature HP:0031329 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0005110 biolink:PhenotypicFeature HP:0005115 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0012398 biolink:PhenotypicFeature HP:0012764 biolink:PhenotypicFeature HP:0100598 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature Orphanet:508 biolink:Disease Leprechaunism HP:0000855 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0003162 biolink:PhenotypicFeature HP:0003758 biolink:PhenotypicFeature HP:0008846 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011998 biolink:PhenotypicFeature HP:0000040 biolink:PhenotypicFeature HP:0000065 biolink:PhenotypicFeature HP:0000105 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0002219 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003247 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0004405 biolink:PhenotypicFeature HP:0004914 biolink:PhenotypicFeature HP:0008665 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000848 biolink:PhenotypicFeature HP:0000859 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001833 biolink:PhenotypicFeature HP:0002035 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0011787 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0025024 biolink:PhenotypicFeature HP:0100879 biolink:PhenotypicFeature Orphanet:15 biolink:Disease Achondroplasia HP:0045087 biolink:PhenotypicFeature HP:0430026 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0003180 biolink:PhenotypicFeature HP:0003375 biolink:PhenotypicFeature HP:0005257 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0011867 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002979 biolink:PhenotypicFeature HP:0003498 biolink:PhenotypicFeature HP:0005619 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0000242 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001377 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003194 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0004060 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005819 biolink:PhenotypicFeature HP:0008445 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010241 biolink:PhenotypicFeature HP:0010536 biolink:PhenotypicFeature HP:0011452 biolink:PhenotypicFeature HP:0045086 biolink:PhenotypicFeature Orphanet:88661 biolink:Disease Amelogenesis imperfecta HP:0006286 biolink:PhenotypicFeature HP:0011073 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0006285 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0011084 biolink:PhenotypicFeature HP:0011085 biolink:PhenotypicFeature HP:0025124 biolink:PhenotypicFeature HP:0200095 biolink:PhenotypicFeature HP:0000679 biolink:PhenotypicFeature HP:0000685 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0006283 biolink:PhenotypicFeature HP:0010299 biolink:PhenotypicFeature HP:0011071 biolink:PhenotypicFeature HP:0030791 biolink:PhenotypicFeature Orphanet:88629 biolink:Disease Tritanopia HP:0000479 biolink:PhenotypicFeature HP:0000552 biolink:PhenotypicFeature HP:0030584 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0012043 biolink:PhenotypicFeature Orphanet:90051 biolink:Disease Sepsis in premature infants HP:0001518 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0040187 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0011410 biolink:PhenotypicFeature HP:0012719 biolink:PhenotypicFeature HP:0030783 biolink:PhenotypicFeature HP:0031602 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0000236 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002686 biolink:PhenotypicFeature HP:0004387 biolink:PhenotypicFeature HP:0004713 biolink:PhenotypicFeature HP:0005952 biolink:PhenotypicFeature HP:0005968 biolink:PhenotypicFeature HP:0030863 biolink:PhenotypicFeature HP:0100520 biolink:PhenotypicFeature HP:0011880 biolink:PhenotypicFeature HP:0031696 biolink:PhenotypicFeature Orphanet:98973 biolink:Disease Posterior polymorphous corneal dystrophy HP:0011490 biolink:PhenotypicFeature HP:0011491 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0011483 biolink:PhenotypicFeature HP:0012040 biolink:PhenotypicFeature HP:0025358 biolink:PhenotypicFeature HP:0032122 biolink:PhenotypicFeature HP:0100692 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000632 biolink:PhenotypicFeature HP:0007906 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0009918 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature HP:0200065 biolink:PhenotypicFeature Orphanet:206436 biolink:Disease Infantile Krabbe disease HP:0000649 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001955 biolink:PhenotypicFeature HP:0002344 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0030215 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002361 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0004466 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012706 biolink:PhenotypicFeature HP:0012708 biolink:PhenotypicFeature HP:0031161 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002179 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002506 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003547 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0005968 biolink:PhenotypicFeature HP:0007103 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0025013 biolink:PhenotypicFeature HP:0030211 biolink:PhenotypicFeature HP:0031860 biolink:PhenotypicFeature HP:0040194 biolink:PhenotypicFeature HP:0040195 biolink:PhenotypicFeature HP:0100963 biolink:PhenotypicFeature HP:0000467 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001264 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0010729 biolink:PhenotypicFeature Orphanet:206443 biolink:Disease Late-infantile/juvenile Krabbe disease HP:0002922 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0001264 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002371 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0002505 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0004466 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010846 biolink:PhenotypicFeature HP:0011400 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0001575 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002068 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0002445 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0010830 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0031006 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature Orphanet:206448 biolink:Disease Adult Krabbe disease HP:0002493 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0002418 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0007199 biolink:PhenotypicFeature HP:0007305 biolink:PhenotypicFeature HP:0007361 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0031993 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002062 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002344 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0004466 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010830 biolink:PhenotypicFeature HP:0011096 biolink:PhenotypicFeature HP:0011441 biolink:PhenotypicFeature HP:0031006 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0002371 biolink:PhenotypicFeature HP:0002492 biolink:PhenotypicFeature HP:0100639 biolink:PhenotypicFeature Orphanet:171673 biolink:Disease Limbal stem cell deficiency HP:0000613 biolink:PhenotypicFeature HP:0000632 biolink:PhenotypicFeature HP:0000643 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0008000 biolink:PhenotypicFeature HP:0009926 biolink:PhenotypicFeature HP:0030953 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000559 biolink:PhenotypicFeature HP:0007727 biolink:PhenotypicFeature HP:0011494 biolink:PhenotypicFeature HP:0011496 biolink:PhenotypicFeature HP:0100583 biolink:PhenotypicFeature HP:0500008 biolink:PhenotypicFeature Orphanet:289390 biolink:Disease Primary Sjögren syndrome HP:0000217 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0004431 biolink:PhenotypicFeature HP:0005195 biolink:PhenotypicFeature HP:0011850 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012532 biolink:PhenotypicFeature HP:0031950 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000099 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001871 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001895 biolink:PhenotypicFeature HP:0001897 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0002613 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0005407 biolink:PhenotypicFeature HP:0005421 biolink:PhenotypicFeature HP:0005523 biolink:PhenotypicFeature HP:0006527 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0006536 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0012089 biolink:PhenotypicFeature HP:0012219 biolink:PhenotypicFeature HP:0012387 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0031088 biolink:PhenotypicFeature HP:0031246 biolink:PhenotypicFeature HP:0031452 biolink:PhenotypicFeature HP:0031983 biolink:PhenotypicFeature HP:0045042 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature HP:0100653 biolink:PhenotypicFeature HP:0100778 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0200123 biolink:PhenotypicFeature HP:0410008 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002143 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0032018 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100583 biolink:PhenotypicFeature HP:0200120 biolink:PhenotypicFeature Orphanet:352731 biolink:Disease Oculocutaneous albinism type 1 HP:0000613 biolink:PhenotypicFeature HP:0000635 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0007513 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007680 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0007750 biolink:PhenotypicFeature HP:0011358 biolink:PhenotypicFeature HP:0012805 biolink:PhenotypicFeature HP:0025551 biolink:PhenotypicFeature HP:0025568 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0002226 biolink:PhenotypicFeature HP:0002227 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0025127 biolink:PhenotypicFeature Orphanet:169805 biolink:Disease Moderate hemophilia A HP:0030746 biolink:PhenotypicFeature HP:0100310 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0003125 biolink:PhenotypicFeature HP:0003645 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0001933 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0005261 biolink:PhenotypicFeature HP:0011889 biolink:PhenotypicFeature HP:0012233 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0003040 biolink:PhenotypicFeature HP:0004846 biolink:PhenotypicFeature HP:0006298 biolink:PhenotypicFeature HP:0100309 biolink:PhenotypicFeature HP:0100769 biolink:PhenotypicFeature HP:0100773 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0003273 biolink:PhenotypicFeature HP:0007420 biolink:PhenotypicFeature Orphanet:177926 biolink:Disease Bleeding disorder in hemophilia A carriers HP:0000978 biolink:PhenotypicFeature HP:0003125 biolink:PhenotypicFeature HP:0000132 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0004846 biolink:PhenotypicFeature HP:0006298 biolink:PhenotypicFeature HP:0011890 biolink:PhenotypicFeature HP:0011891 biolink:PhenotypicFeature HP:0003645 biolink:PhenotypicFeature HP:0005261 biolink:PhenotypicFeature HP:0007420 biolink:PhenotypicFeature Orphanet:251393 biolink:Disease Localized junctional epidermolysis bullosa HP:0001030 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0002215 biolink:PhenotypicFeature HP:0002225 biolink:PhenotypicFeature HP:0004529 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0009722 biolink:PhenotypicFeature HP:0011073 biolink:PhenotypicFeature HP:0031045 biolink:PhenotypicFeature HP:0032156 biolink:PhenotypicFeature HP:0001057 biolink:PhenotypicFeature HP:0001810 biolink:PhenotypicFeature HP:0004552 biolink:PhenotypicFeature HP:0008391 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0003121 biolink:PhenotypicFeature HP:0004057 biolink:PhenotypicFeature Orphanet:217260 biolink:Disease Progressive multifocal leukoencephalopathy HP:0000707 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002921 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0007305 biolink:PhenotypicFeature HP:0031392 biolink:PhenotypicFeature HP:0100706 biolink:PhenotypicFeature HP:0100707 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0003690 biolink:PhenotypicFeature HP:0004374 biolink:PhenotypicFeature HP:0005415 biolink:PhenotypicFeature HP:0010549 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000751 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0004377 biolink:PhenotypicFeature HP:0012246 biolink:PhenotypicFeature HP:0025479 biolink:PhenotypicFeature HP:0030516 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature Orphanet:171876 biolink:Disease Generalized pseudohypoaldosteronism type 1 HP:0000848 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0011740 biolink:PhenotypicFeature HP:0040085 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0031274 biolink:PhenotypicFeature HP:0200117 biolink:PhenotypicFeature HP:0001047 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0003508 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0011110 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature Orphanet:329918 biolink:Disease C3 glomerulopathy HP:0000790 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000793 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0005421 biolink:PhenotypicFeature HP:0012574 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0025364 biolink:PhenotypicFeature HP:0030888 biolink:PhenotypicFeature HP:0031047 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0011510 biolink:PhenotypicFeature HP:0025567 biolink:PhenotypicFeature HP:0030469 biolink:PhenotypicFeature HP:0030506 biolink:PhenotypicFeature HP:0045042 biolink:PhenotypicFeature Orphanet:99953 biolink:Disease Charcot-Marie-Tooth disease type 4G HP:0001284 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003431 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0006984 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0007230 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0011096 biolink:PhenotypicFeature HP:0012078 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0007210 biolink:PhenotypicFeature HP:0008959 biolink:PhenotypicFeature HP:0009129 biolink:PhenotypicFeature HP:0010830 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002505 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature Orphanet:449285 biolink:Disease Snakebite envenomation HP:0000969 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011355 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0031364 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0003713 biolink:PhenotypicFeature HP:0007024 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0011900 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002068 biolink:PhenotypicFeature HP:0002203 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature HP:0030149 biolink:PhenotypicFeature HP:0040075 biolink:PhenotypicFeature HP:0100665 biolink:PhenotypicFeature Orphanet:500095 biolink:Disease Tall stature-intellectual disability-renal anomalies syndrome HP:0000256 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000480 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0004712 biolink:PhenotypicFeature HP:0011407 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0030037 biolink:PhenotypicFeature HP:0410252 biolink:PhenotypicFeature HP:0410255 biolink:PhenotypicFeature HP:0000003 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000105 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001707 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001833 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0001847 biolink:PhenotypicFeature HP:0002619 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature HP:0002982 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0031069 biolink:PhenotypicFeature HP:0100694 biolink:PhenotypicFeature Orphanet:500055 biolink:Disease 16p13.2 microdeletion syndrome HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007082 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0012762 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0006970 biolink:PhenotypicFeature HP:0008770 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0012166 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0025502 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:254930 biolink:Disease Combined oxidative phosphorylation defect type 7 HP:0000505 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0031629 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001283 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001349 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002590 biolink:PhenotypicFeature HP:0002943 biolink:PhenotypicFeature HP:0003380 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0007641 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0012696 biolink:PhenotypicFeature HP:0012707 biolink:PhenotypicFeature HP:0012747 biolink:PhenotypicFeature HP:0020049 biolink:PhenotypicFeature HP:0200136 biolink:PhenotypicFeature Orphanet:495875 biolink:Disease Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000028 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000350 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0001131 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008707 biolink:PhenotypicFeature HP:0008729 biolink:PhenotypicFeature HP:0011229 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000557 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011825 biolink:PhenotypicFeature HP:0012110 biolink:PhenotypicFeature HP:0000064 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0001545 biolink:PhenotypicFeature HP:0002000 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0025405 biolink:PhenotypicFeature HP:0040171 biolink:PhenotypicFeature Orphanet:500545 biolink:Disease Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0000737 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0012171 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0001118 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0005949 biolink:PhenotypicFeature HP:0012430 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature Orphanet:500533 biolink:Disease Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome HP:0000256 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001355 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0012430 biolink:PhenotypicFeature HP:0030891 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000297 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0006829 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0011182 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature Orphanet:500180 biolink:Disease Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0000708 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature Orphanet:500144 biolink:Disease Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001338 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0007096 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0012110 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001605 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0011097 biolink:PhenotypicFeature HP:0012796 biolink:PhenotypicFeature HP:0030043 biolink:PhenotypicFeature Orphanet:506358 biolink:Disease Gabriele-de Vries syndrome HP:0000179 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000629 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0011339 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0200136 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000074 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000297 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002032 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002171 biolink:PhenotypicFeature HP:0002236 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0003006 biolink:PhenotypicFeature HP:0003187 biolink:PhenotypicFeature HP:0005684 biolink:PhenotypicFeature HP:0006094 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007678 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0010316 biolink:PhenotypicFeature HP:0010499 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011311 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature Orphanet:505652 biolink:Disease CDKL5-deficiency disorder HP:0010818 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000748 biolink:PhenotypicFeature HP:0000817 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0003763 biolink:PhenotypicFeature HP:0003808 biolink:PhenotypicFeature HP:0006979 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0009852 biolink:PhenotypicFeature HP:0010841 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012171 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002795 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature Orphanet:505248 biolink:Disease Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders HP:0000093 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000943 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002159 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003541 biolink:PhenotypicFeature HP:0006536 biolink:PhenotypicFeature HP:0031123 biolink:PhenotypicFeature HP:0000105 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000629 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001552 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0002942 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003496 biolink:PhenotypicFeature HP:0004315 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0006191 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008454 biolink:PhenotypicFeature HP:0010307 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0012597 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0100874 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature Orphanet:502434 biolink:Disease STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000490 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0045074 biolink:PhenotypicFeature HP:0000050 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001377 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001566 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0200134 biolink:PhenotypicFeature Orphanet:513456 biolink:Disease Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000293 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0010803 biolink:PhenotypicFeature HP:0430028 biolink:PhenotypicFeature HP:0000168 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0005274 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005338 biolink:PhenotypicFeature HP:0007800 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010800 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0025336 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0002779 biolink:PhenotypicFeature HP:0005750 biolink:PhenotypicFeature HP:0006808 biolink:PhenotypicFeature HP:0006897 biolink:PhenotypicFeature HP:0008762 biolink:PhenotypicFeature HP:0010740 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature HP:0012020 biolink:PhenotypicFeature HP:0012172 biolink:PhenotypicFeature HP:0012683 biolink:PhenotypicFeature HP:0025186 biolink:PhenotypicFeature HP:0040115 biolink:PhenotypicFeature Orphanet:508542 biolink:Disease Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome HP:0001903 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001896 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006872 biolink:PhenotypicFeature HP:0010976 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0031688 biolink:PhenotypicFeature HP:0031689 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0000916 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0002783 biolink:PhenotypicFeature HP:0004991 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0005792 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012490 biolink:PhenotypicFeature HP:0012817 biolink:PhenotypicFeature Orphanet:508533 biolink:Disease Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000924 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0004565 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001230 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002813 biolink:PhenotypicFeature HP:0002867 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003311 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0003375 biolink:PhenotypicFeature HP:0003498 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0005403 biolink:PhenotypicFeature HP:0008807 biolink:PhenotypicFeature HP:0009768 biolink:PhenotypicFeature HP:0009803 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0025336 biolink:PhenotypicFeature HP:0031381 biolink:PhenotypicFeature HP:0032061 biolink:PhenotypicFeature HP:0045060 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001830 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002179 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002341 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002676 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002850 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0002996 biolink:PhenotypicFeature HP:0003051 biolink:PhenotypicFeature HP:0003189 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature HP:0004315 biolink:PhenotypicFeature HP:0004430 biolink:PhenotypicFeature HP:0004894 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005306 biolink:PhenotypicFeature HP:0005407 biolink:PhenotypicFeature HP:0005415 biolink:PhenotypicFeature HP:0005619 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0008445 biolink:PhenotypicFeature HP:0008462 biolink:PhenotypicFeature HP:0008763 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0011166 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0030320 biolink:PhenotypicFeature HP:0100865 biolink:PhenotypicFeature Orphanet:508498 biolink:Disease Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0001249 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0002761 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000125 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000480 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001052 biolink:PhenotypicFeature HP:0001177 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001660 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001738 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002942 biolink:PhenotypicFeature HP:0002943 biolink:PhenotypicFeature HP:0002949 biolink:PhenotypicFeature HP:0003835 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0005620 biolink:PhenotypicFeature HP:0006009 biolink:PhenotypicFeature HP:0006695 biolink:PhenotypicFeature HP:0006712 biolink:PhenotypicFeature HP:0006970 biolink:PhenotypicFeature HP:0007687 biolink:PhenotypicFeature HP:0007874 biolink:PhenotypicFeature HP:0008467 biolink:PhenotypicFeature HP:0009237 biolink:PhenotypicFeature HP:0009997 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0011682 biolink:PhenotypicFeature HP:0012487 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0012795 biolink:PhenotypicFeature HP:0025481 biolink:PhenotypicFeature Orphanet:739 biolink:Disease Prader-Willi syndrome HP:0000028 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011398 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000059 biolink:PhenotypicFeature HP:0000060 biolink:PhenotypicFeature HP:0000064 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000704 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001055 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001612 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002494 biolink:PhenotypicFeature HP:0002578 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0010536 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature HP:0011734 biolink:PhenotypicFeature HP:0012506 biolink:PhenotypicFeature HP:0012650 biolink:PhenotypicFeature HP:0012743 biolink:PhenotypicFeature HP:0030339 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002189 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0007874 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0011787 biolink:PhenotypicFeature HP:0012411 biolink:PhenotypicFeature HP:0012412 biolink:PhenotypicFeature HP:0031100 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature Orphanet:805 biolink:Disease Tuberous sclerosis complex HP:0000077 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002539 biolink:PhenotypicFeature HP:0009716 biolink:PhenotypicFeature HP:0009717 biolink:PhenotypicFeature HP:0009719 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0007449 biolink:PhenotypicFeature HP:0008762 biolink:PhenotypicFeature HP:0009594 biolink:PhenotypicFeature HP:0009721 biolink:PhenotypicFeature HP:0009729 biolink:PhenotypicFeature HP:0010615 biolink:PhenotypicFeature HP:0011097 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0012798 biolink:PhenotypicFeature HP:0040030 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001407 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0006772 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0009718 biolink:PhenotypicFeature HP:0010953 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0100804 biolink:PhenotypicFeature HP:0200040 biolink:PhenotypicFeature HP:0000113 biolink:PhenotypicFeature HP:0002666 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature HP:0002897 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0004942 biolink:PhenotypicFeature HP:0005584 biolink:PhenotypicFeature HP:0008208 biolink:PhenotypicFeature HP:0011029 biolink:PhenotypicFeature HP:0012778 biolink:PhenotypicFeature HP:0030405 biolink:PhenotypicFeature HP:0100570 biolink:PhenotypicFeature Orphanet:522077 biolink:Disease Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome HP:0000729 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000817 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0008762 biolink:PhenotypicFeature HP:0025152 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000244 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000349 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000742 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001776 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002871 biolink:PhenotypicFeature HP:0002883 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0005274 biolink:PhenotypicFeature HP:0005876 biolink:PhenotypicFeature HP:0007874 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature HP:0008138 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0010850 biolink:PhenotypicFeature HP:0011194 biolink:PhenotypicFeature HP:0011196 biolink:PhenotypicFeature HP:0011228 biolink:PhenotypicFeature HP:0011445 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012169 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0025247 biolink:PhenotypicFeature HP:0040296 biolink:PhenotypicFeature HP:0100248 biolink:PhenotypicFeature Orphanet:580 biolink:Disease Mucopolysaccharidosis type 2 HP:0000256 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000546 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0000943 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002344 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0004582 biolink:PhenotypicFeature HP:0005781 biolink:PhenotypicFeature HP:0006979 biolink:PhenotypicFeature HP:0007994 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0030044 biolink:PhenotypicFeature HP:0030812 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0410018 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000362 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000493 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001085 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001334 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001641 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0001702 biolink:PhenotypicFeature HP:0002176 biolink:PhenotypicFeature HP:0002781 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008843 biolink:PhenotypicFeature HP:0010656 biolink:PhenotypicFeature HP:0012185 biolink:PhenotypicFeature HP:0012478 biolink:PhenotypicFeature HP:0030466 biolink:PhenotypicFeature HP:0031416 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001129 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0004950 biolink:PhenotypicFeature HP:0010865 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature Orphanet:33069 biolink:Disease Dravet syndrome HP:0002376 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0000466 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001327 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002349 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002396 biolink:PhenotypicFeature HP:0006813 biolink:PhenotypicFeature HP:0007207 biolink:PhenotypicFeature HP:0007270 biolink:PhenotypicFeature HP:0008770 biolink:PhenotypicFeature HP:0010841 biolink:PhenotypicFeature HP:0011169 biolink:PhenotypicFeature HP:0011172 biolink:PhenotypicFeature HP:0011182 biolink:PhenotypicFeature HP:0011468 biolink:PhenotypicFeature HP:0012847 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002311 biolink:PhenotypicFeature HP:0002345 biolink:PhenotypicFeature HP:0003066 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011185 biolink:PhenotypicFeature HP:0011198 biolink:PhenotypicFeature HP:0025101 biolink:PhenotypicFeature HP:0031475 biolink:PhenotypicFeature HP:0100694 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0200048 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature Orphanet:231222 biolink:Disease Beta-thalassemia intermedia HP:0000939 biolink:PhenotypicFeature HP:0010972 biolink:PhenotypicFeature HP:0011904 biolink:PhenotypicFeature HP:0025066 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001978 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0011031 biolink:PhenotypicFeature HP:0012132 biolink:PhenotypicFeature HP:0045048 biolink:PhenotypicFeature HP:0100724 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0000114 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001722 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0012465 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000829 biolink:PhenotypicFeature HP:0000846 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0002176 biolink:PhenotypicFeature Orphanet:2169 biolink:Disease Methylcobalamin deficiency type cblE HP:0009830 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012704 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001980 biolink:PhenotypicFeature HP:0002160 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001972 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0003658 biolink:PhenotypicFeature HP:0005518 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002189 biolink:PhenotypicFeature HP:0002365 biolink:PhenotypicFeature HP:0002625 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0005575 biolink:PhenotypicFeature HP:0006895 biolink:PhenotypicFeature Orphanet:769 biolink:Disease Rabson-Mendenhall syndrome HP:0003758 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008283 biolink:PhenotypicFeature HP:0008665 biolink:PhenotypicFeature HP:0008850 biolink:PhenotypicFeature HP:0011998 biolink:PhenotypicFeature HP:0012542 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0003162 biolink:PhenotypicFeature HP:0000040 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000831 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0030088 biolink:PhenotypicFeature HP:0030348 biolink:PhenotypicFeature HP:0030796 biolink:PhenotypicFeature HP:0031452 biolink:PhenotypicFeature HP:0100874 biolink:PhenotypicFeature HP:0100879 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000221 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001953 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0006288 biolink:PhenotypicFeature HP:0007305 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature HP:0012686 biolink:PhenotypicFeature HP:0040270 biolink:PhenotypicFeature Orphanet:314918 biolink:Disease Mild Canavan disease HP:0001270 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0012751 biolink:PhenotypicFeature HP:0040196 biolink:PhenotypicFeature Orphanet:309282 biolink:Disease Alpha-mannosidosis, infantile form HP:0000388 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000943 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0010471 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000410 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0011334 biolink:PhenotypicFeature HP:0025406 biolink:PhenotypicFeature HP:0031123 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000297 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000746 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000900 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000977 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001776 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002679 biolink:PhenotypicFeature HP:0002684 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0004437 biolink:PhenotypicFeature HP:0004684 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005791 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008821 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0010665 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0012157 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0430022 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0001334 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0002371 biolink:PhenotypicFeature Orphanet:333 biolink:Disease Farber disease HP:0001369 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0007470 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001615 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003444 biolink:PhenotypicFeature HP:0003640 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010729 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature HP:0000502 biolink:PhenotypicFeature HP:0000608 biolink:PhenotypicFeature HP:0000766 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001612 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001954 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002207 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005483 biolink:PhenotypicFeature HP:0006511 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0025392 biolink:PhenotypicFeature HP:0025405 biolink:PhenotypicFeature HP:0025423 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001686 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002385 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0006575 biolink:PhenotypicFeature HP:0007759 biolink:PhenotypicFeature HP:0009381 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature Orphanet:314911 biolink:Disease Severe Canavan disease HP:0000256 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0025053 biolink:PhenotypicFeature HP:0025405 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001612 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012762 biolink:PhenotypicFeature HP:0200136 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001355 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0002200 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0025013 biolink:PhenotypicFeature Orphanet:368 biolink:Disease Glycogen storage disease due to muscle glycogen phosphorylase deficiency HP:0003236 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0009051 biolink:PhenotypicFeature HP:0030231 biolink:PhenotypicFeature HP:0030234 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0003652 biolink:PhenotypicFeature HP:0003710 biolink:PhenotypicFeature HP:0008305 biolink:PhenotypicFeature HP:0040319 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003738 biolink:PhenotypicFeature HP:0008967 biolink:PhenotypicFeature HP:0009073 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030973 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature Orphanet:369 biolink:Disease Glycogen storage disease due to liver glycogen phosphorylase deficiency HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0006568 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001946 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0003710 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004913 biolink:PhenotypicFeature HP:0006580 biolink:PhenotypicFeature HP:0030973 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0011997 biolink:PhenotypicFeature Orphanet:309288 biolink:Disease Alpha-mannosidosis, adult form HP:0001256 biolink:PhenotypicFeature HP:0010471 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0025406 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000410 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000746 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0012157 biolink:PhenotypicFeature HP:0031123 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature Orphanet:367 biolink:Disease Glycogen storage disease due to glycogen branching enzyme deficiency HP:0001410 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature HP:0012269 biolink:PhenotypicFeature HP:0031331 biolink:PhenotypicFeature HP:0500032 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001790 biolink:PhenotypicFeature HP:0001989 biolink:PhenotypicFeature HP:0002040 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003645 biolink:PhenotypicFeature HP:0006829 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature Orphanet:457359 biolink:Disease Megalencephaly-severe kyphoscoliosis-overgrowth syndrome HP:0000276 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001548 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011229 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001355 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0001533 biolink:PhenotypicFeature HP:0001833 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000297 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000472 biolink:PhenotypicFeature HP:0000586 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001334 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001555 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001998 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0006863 biolink:PhenotypicFeature HP:0007074 biolink:PhenotypicFeature HP:0007204 biolink:PhenotypicFeature HP:0011003 biolink:PhenotypicFeature HP:0011330 biolink:PhenotypicFeature Orphanet:457351 biolink:Disease Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0000252 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000817 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0006808 biolink:PhenotypicFeature HP:0006863 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011352 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0003189 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0010838 biolink:PhenotypicFeature HP:0011229 biolink:PhenotypicFeature HP:0011290 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004532 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0020049 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:457395 biolink:Disease Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000272 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000598 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001498 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002651 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004689 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0100864 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000766 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002944 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003100 biolink:PhenotypicFeature HP:0003275 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003521 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004568 biolink:PhenotypicFeature HP:0005096 biolink:PhenotypicFeature HP:0005639 biolink:PhenotypicFeature HP:0006461 biolink:PhenotypicFeature HP:0006863 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010585 biolink:PhenotypicFeature HP:0012428 biolink:PhenotypicFeature HP:0030292 biolink:PhenotypicFeature HP:0030293 biolink:PhenotypicFeature HP:0040261 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001377 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001863 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002677 biolink:PhenotypicFeature HP:0004592 biolink:PhenotypicFeature HP:0008812 biolink:PhenotypicFeature HP:0030427 biolink:PhenotypicFeature Orphanet:457365 biolink:Disease Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome HP:0000160 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0002352 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0010761 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature Orphanet:457212 biolink:Disease Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome HP:0000303 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000742 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001575 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0045025 biolink:PhenotypicFeature HP:0000073 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000748 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0005580 biolink:PhenotypicFeature HP:0012114 biolink:PhenotypicFeature Orphanet:926 biolink:Disease Acatalasemia HP:0012517 biolink:PhenotypicFeature HP:0000155 biolink:PhenotypicFeature HP:0000166 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0000230 biolink:PhenotypicFeature HP:0001935 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0040113 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0002634 biolink:PhenotypicFeature HP:0006357 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0100605 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature Orphanet:457284 biolink:Disease Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000297 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000151 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0003250 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0006955 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0010721 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0012304 biolink:PhenotypicFeature HP:0025607 biolink:PhenotypicFeature HP:0100259 biolink:PhenotypicFeature Orphanet:457279 biolink:Disease Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome HP:0000256 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000744 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002389 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0100702 biolink:PhenotypicFeature HP:0000176 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0001137 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001583 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0005988 biolink:PhenotypicFeature HP:0011937 biolink:PhenotypicFeature HP:0100350 biolink:PhenotypicFeature Orphanet:466926 biolink:Disease Seizures-scoliosis-macrocephaly syndrome HP:0000750 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0004425 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0100777 biolink:PhenotypicFeature Orphanet:464738 biolink:Disease Basel-Vanagaite-Smirin-Yosef syndrome HP:0000175 biolink:PhenotypicFeature HP:0000221 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002389 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0007082 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature HP:0009468 biolink:PhenotypicFeature HP:0009471 biolink:PhenotypicFeature HP:0010186 biolink:PhenotypicFeature HP:0010557 biolink:PhenotypicFeature HP:0011670 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0032077 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0007413 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002263 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0005274 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature Orphanet:468620 biolink:Disease Intellectual disability-epilepsy-extrapyramidal syndrome HP:0000817 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000720 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010832 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0030051 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature Orphanet:466943 biolink:Disease WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome HP:0000708 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0000321 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0010862 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0030190 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000395 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002370 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011822 biolink:PhenotypicFeature HP:0012704 biolink:PhenotypicFeature HP:0030863 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0000125 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature HP:0100581 biolink:PhenotypicFeature HP:0100702 biolink:PhenotypicFeature Orphanet:459070 biolink:Disease X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0001250 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002655 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0040080 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004415 biolink:PhenotypicFeature HP:0005750 biolink:PhenotypicFeature HP:0006698 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0009381 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0012032 biolink:PhenotypicFeature HP:0012811 biolink:PhenotypicFeature HP:0031535 biolink:PhenotypicFeature HP:0040168 biolink:PhenotypicFeature HP:0045025 biolink:PhenotypicFeature Orphanet:459061 biolink:Disease Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007291 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000805 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0004442 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0012712 biolink:PhenotypicFeature HP:0030799 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:464288 biolink:Disease Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000233 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0004689 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000620 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0000852 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0003065 biolink:PhenotypicFeature HP:0007074 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0031938 biolink:PhenotypicFeature Orphanet:459074 biolink:Disease Corpus callosum agenesis-macrocephaly-hypertelorism syndrome HP:0000256 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0007099 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature Orphanet:481152 biolink:Disease PYCR2-related microcephaly-progressive leukoencephalopathy HP:0000253 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003429 biolink:PhenotypicFeature HP:0007258 biolink:PhenotypicFeature HP:0011398 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000396 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002365 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0005072 biolink:PhenotypicFeature HP:0005659 biolink:PhenotypicFeature HP:0006460 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0011166 biolink:PhenotypicFeature HP:0011229 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature Orphanet:485405 biolink:Disease 16p12.1p12.3 triplication syndrome HP:0000233 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0007687 biolink:PhenotypicFeature HP:0009748 biolink:PhenotypicFeature HP:0010862 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001212 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001702 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008689 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0009237 biolink:PhenotypicFeature HP:0011040 biolink:PhenotypicFeature HP:0012166 biolink:PhenotypicFeature HP:0012170 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0040025 biolink:PhenotypicFeature Orphanet:487796 biolink:Disease Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0001999 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000766 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011877 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000454 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0003764 biolink:PhenotypicFeature HP:0005160 biolink:PhenotypicFeature HP:0007033 biolink:PhenotypicFeature HP:0007655 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0100763 biolink:PhenotypicFeature Orphanet:487825 biolink:Disease Pierpont syndrome HP:0000232 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0006191 biolink:PhenotypicFeature HP:0007552 biolink:PhenotypicFeature HP:0012811 biolink:PhenotypicFeature HP:0045025 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000289 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0001212 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007367 biolink:PhenotypicFeature HP:0007605 biolink:PhenotypicFeature HP:0009381 biolink:PhenotypicFeature HP:0009909 biolink:PhenotypicFeature HP:0011341 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0100872 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002536 biolink:PhenotypicFeature HP:0009890 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012043 biolink:PhenotypicFeature Orphanet:477817 biolink:Disease PMP22-RAI1 contiguous gene duplication syndrome HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0012210 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0200101 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001719 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002623 biolink:PhenotypicFeature HP:0003380 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0004942 biolink:PhenotypicFeature HP:0005301 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature Orphanet:477993 biolink:Disease Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome HP:0000174 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0011078 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000041 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0006895 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0009890 biolink:PhenotypicFeature HP:0011832 biolink:PhenotypicFeature HP:0012081 biolink:PhenotypicFeature HP:0012430 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0030048 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature Orphanet:480864 biolink:Disease Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002919 biolink:PhenotypicFeature HP:0003115 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature HP:0002311 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0008223 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008942 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0000605 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002173 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0031165 biolink:PhenotypicFeature HP:0045045 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature Orphanet:480898 biolink:Disease Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome HP:0000278 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0007371 biolink:PhenotypicFeature HP:0100275 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000253 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0001212 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0031954 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0008755 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature Orphanet:488635 biolink:Disease Early-onset epilepsy-intellectual disability-brain anomalies syndrome HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0030047 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001187 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007258 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature HP:0010510 biolink:PhenotypicFeature HP:0011193 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature Orphanet:488642 biolink:Disease TELO2-related intellectual disability-neurodevelopmental disorder HP:0001999 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004692 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0030962 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0000081 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001583 biolink:PhenotypicFeature HP:0001734 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0003273 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006979 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0008513 biolink:PhenotypicFeature HP:0008780 biolink:PhenotypicFeature HP:0010296 biolink:PhenotypicFeature HP:0020045 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:494344 biolink:Disease RERE-related neurodevelopmental syndrome HP:0001250 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007305 biolink:PhenotypicFeature HP:0011229 biolink:PhenotypicFeature HP:0012803 biolink:PhenotypicFeature HP:0031910 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000659 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature Orphanet:495818 biolink:Disease 9q33.3q34.11 microdeletion syndrome HP:0000233 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002003 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011822 biolink:PhenotypicFeature HP:0200005 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0003065 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0006471 biolink:PhenotypicFeature HP:0010665 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001009 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002188 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0006443 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature HP:0011825 biolink:PhenotypicFeature HP:0100633 biolink:PhenotypicFeature Orphanet:488434 biolink:Disease Camptodactyly syndrome, Guadalajara type 3 HP:0000278 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000437 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0000935 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001054 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0006402 biolink:PhenotypicFeature HP:0006429 biolink:PhenotypicFeature HP:0010761 biolink:PhenotypicFeature HP:0012036 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0012810 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0430007 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature Orphanet:488618 biolink:Disease Transketolase deficiency HP:0001263 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0003508 biolink:PhenotypicFeature HP:0025550 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0410072 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0001051 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0011686 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:488627 biolink:Disease Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome HP:0001531 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000253 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0007052 biolink:PhenotypicFeature HP:0007334 biolink:PhenotypicFeature HP:0012213 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002193 biolink:PhenotypicFeature HP:0002367 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0006989 biolink:PhenotypicFeature HP:0040329 biolink:PhenotypicFeature HP:0100702 biolink:PhenotypicFeature HP:0100814 biolink:PhenotypicFeature Orphanet:488632 biolink:Disease TBCK-related intellectual disability syndrome HP:0001319 biolink:PhenotypicFeature HP:0003323 biolink:PhenotypicFeature HP:0003444 biolink:PhenotypicFeature HP:0006829 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003119 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0031165 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0011198 biolink:PhenotypicFeature HP:0100288 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000836 biolink:PhenotypicFeature HP:0000878 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001500 biolink:PhenotypicFeature HP:0001540 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001837 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0007302 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0011734 biolink:PhenotypicFeature HP:0012547 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature Orphanet:412035 biolink:Disease 13q12.3 microdeletion syndrome HP:0010763 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0012724 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0012393 biolink:PhenotypicFeature HP:0200053 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0000742 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001047 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature Orphanet:397709 biolink:Disease Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome HP:0000280 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0010862 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000289 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000350 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002186 biolink:PhenotypicFeature HP:0002219 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002684 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006951 biolink:PhenotypicFeature HP:0008443 biolink:PhenotypicFeature HP:0010471 biolink:PhenotypicFeature HP:0012110 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0012810 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature Orphanet:169802 biolink:Disease Severe hemophilia A HP:0003125 biolink:PhenotypicFeature HP:0003645 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001058 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001934 biolink:PhenotypicFeature HP:0004846 biolink:PhenotypicFeature HP:0005261 biolink:PhenotypicFeature HP:0030140 biolink:PhenotypicFeature HP:0000132 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003121 biolink:PhenotypicFeature HP:0005187 biolink:PhenotypicFeature HP:0008330 biolink:PhenotypicFeature HP:0012233 biolink:PhenotypicFeature HP:0012541 biolink:PhenotypicFeature HP:0012587 biolink:PhenotypicFeature HP:0030137 biolink:PhenotypicFeature HP:0100309 biolink:PhenotypicFeature HP:0100310 biolink:PhenotypicFeature HP:0100769 biolink:PhenotypicFeature Orphanet:397612 biolink:Disease Macrocephaly-developmental delay syndrome HP:0000256 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001963 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0010845 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0030799 biolink:PhenotypicFeature HP:0045025 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:391408 biolink:Disease Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000252 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0003508 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000274 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0000685 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001238 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0001946 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002365 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0007258 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature HP:0008850 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0010344 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011308 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0025383 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0200021 biolink:PhenotypicFeature Orphanet:391372 biolink:Disease Intellectual disability-severe speech delay-mild dysmorphism syndrome HP:0000750 biolink:PhenotypicFeature HP:0002474 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000539 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002236 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005272 biolink:PhenotypicFeature HP:0007301 biolink:PhenotypicFeature HP:0008762 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011823 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000598 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001212 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008589 biolink:PhenotypicFeature HP:0012393 biolink:PhenotypicFeature HP:0025502 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0040303 biolink:PhenotypicFeature Orphanet:391307 biolink:Disease Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002486 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature Orphanet:371364 biolink:Disease Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000486 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0009884 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001525 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0009931 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0011398 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0100963 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003273 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0100024 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:401935 biolink:Disease 14q24.1q24.3 microdeletion syndrome HP:0000219 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000086 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001660 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0003083 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004935 biolink:PhenotypicFeature HP:0005852 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:401923 biolink:Disease 9q31.1q31.3 microdeletion syndrome HP:0000303 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000894 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002947 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0011822 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0025502 biolink:PhenotypicFeature HP:0100817 biolink:PhenotypicFeature HP:0100874 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:401777 biolink:Disease Optic atrophy-intellectual disability syndrome HP:0000648 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0003194 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007766 biolink:PhenotypicFeature HP:0008762 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000563 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0025100 biolink:PhenotypicFeature Orphanet:397973 biolink:Disease Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome HP:0000303 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000484 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0001047 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0006333 biolink:PhenotypicFeature HP:0010164 biolink:PhenotypicFeature HP:0011349 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002690 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0100046 biolink:PhenotypicFeature HP:0100057 biolink:PhenotypicFeature HP:0100068 biolink:PhenotypicFeature HP:0100271 biolink:PhenotypicFeature Orphanet:397951 biolink:Disease Microcephaly-thin corpus callosum-intellectual disability syndrome HP:0001249 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature Orphanet:434179 biolink:Disease Orofaciodigital syndrome type 14 HP:0000039 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000180 biolink:PhenotypicFeature HP:0000191 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000480 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001162 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001338 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001830 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002198 biolink:PhenotypicFeature HP:0002419 biolink:PhenotypicFeature HP:0007082 biolink:PhenotypicFeature HP:0007165 biolink:PhenotypicFeature HP:0008689 biolink:PhenotypicFeature HP:0008753 biolink:PhenotypicFeature HP:0010051 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0010066 biolink:PhenotypicFeature HP:0010297 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0011802 biolink:PhenotypicFeature HP:0012447 biolink:PhenotypicFeature HP:0100954 biolink:PhenotypicFeature Orphanet:420561 biolink:Disease Temple-Baraitser syndrome HP:0010803 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0012553 biolink:PhenotypicFeature HP:0012555 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0001847 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002058 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0010624 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0001802 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0006016 biolink:PhenotypicFeature HP:0009648 biolink:PhenotypicFeature HP:0009660 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0009890 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature Orphanet:412069 biolink:Disease AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002474 biolink:PhenotypicFeature HP:0002781 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0011477 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000385 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002779 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006951 biolink:PhenotypicFeature HP:0009909 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0025267 biolink:PhenotypicFeature HP:0025573 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature Orphanet:439822 biolink:Disease PDE4D haploinsufficiency syndrome HP:0000272 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001230 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001769 biolink:PhenotypicFeature HP:0001783 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006009 biolink:PhenotypicFeature HP:0009803 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0010743 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000283 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002003 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002684 biolink:PhenotypicFeature HP:0003165 biolink:PhenotypicFeature HP:0003301 biolink:PhenotypicFeature HP:0005274 biolink:PhenotypicFeature HP:0005819 biolink:PhenotypicFeature HP:0008457 biolink:PhenotypicFeature HP:0009824 biolink:PhenotypicFeature HP:0010665 biolink:PhenotypicFeature HP:0045025 biolink:PhenotypicFeature Orphanet:444013 biolink:Disease Combined oxidative phosphorylation defect type 23 HP:0001639 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001667 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0001716 biolink:PhenotypicFeature HP:0002415 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0008347 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010307 biolink:PhenotypicFeature HP:0011923 biolink:PhenotypicFeature HP:0012666 biolink:PhenotypicFeature HP:0012696 biolink:PhenotypicFeature HP:0012747 biolink:PhenotypicFeature HP:0012751 biolink:PhenotypicFeature HP:0012763 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:438134 biolink:Disease PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0000365 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002180 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007763 biolink:PhenotypicFeature HP:0031087 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:438178 biolink:Disease Fatty acyl-CoA reductase 1 deficiency HP:0000253 biolink:PhenotypicFeature HP:0001118 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003698 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature Orphanet:436151 biolink:Disease Intellectual disability-expressive aphasia-facial dysmorphism syndrome HP:0000750 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002546 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:436245 biolink:Disease Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome HP:0000430 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0001118 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007675 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000699 biolink:PhenotypicFeature HP:0001133 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002311 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0007791 biolink:PhenotypicFeature HP:0007965 biolink:PhenotypicFeature HP:0009907 biolink:PhenotypicFeature HP:0010761 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature Orphanet:404451 biolink:Disease FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome HP:0000028 biolink:PhenotypicFeature HP:0000608 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002200 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0007030 biolink:PhenotypicFeature HP:0008780 biolink:PhenotypicFeature HP:0011506 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature Orphanet:411986 biolink:Disease Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome HP:0000294 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000629 biolink:PhenotypicFeature HP:0000817 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0010841 biolink:PhenotypicFeature HP:0012105 biolink:PhenotypicFeature HP:0012110 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0009748 biolink:PhenotypicFeature HP:0009904 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0040159 biolink:PhenotypicFeature Orphanet:453533 biolink:Disease Polyendocrine-polyneuropathy syndrome HP:0000044 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001730 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0030341 biolink:PhenotypicFeature HP:0030344 biolink:PhenotypicFeature HP:0040171 biolink:PhenotypicFeature HP:0100287 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0010627 biolink:PhenotypicFeature HP:0011787 biolink:PhenotypicFeature HP:0040216 biolink:PhenotypicFeature Orphanet:457205 biolink:Disease Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome HP:0000028 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003390 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0007002 biolink:PhenotypicFeature HP:0007817 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0030179 biolink:PhenotypicFeature HP:0100492 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0012411 biolink:PhenotypicFeature Orphanet:453499 biolink:Disease Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000119 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000221 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000586 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0010880 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000476 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001954 biolink:PhenotypicFeature HP:0002046 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002282 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0003763 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0004970 biolink:PhenotypicFeature HP:0006695 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0007550 biolink:PhenotypicFeature HP:0009794 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0025487 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature Orphanet:453510 biolink:Disease Congenital insensitivity to pain with severe intellectual disability HP:0000486 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000742 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002188 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0007021 biolink:PhenotypicFeature HP:0008000 biolink:PhenotypicFeature HP:0010830 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001772 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002982 biolink:PhenotypicFeature HP:0008780 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0010841 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0012044 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0200020 biolink:PhenotypicFeature Orphanet:447980 biolink:Disease 19p13.3 microduplication syndrome HP:0000252 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0002572 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012741 biolink:PhenotypicFeature HP:0030043 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:447997 biolink:Disease Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0003739 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006808 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0012167 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature Orphanet:444072 biolink:Disease Cerebellar-facial-dental syndrome HP:0000252 biolink:PhenotypicFeature HP:0000675 biolink:PhenotypicFeature HP:0000679 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002280 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0006511 biolink:PhenotypicFeature HP:0009085 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000074 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0002365 biolink:PhenotypicFeature HP:0002418 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0003100 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004970 biolink:PhenotypicFeature HP:0005135 biolink:PhenotypicFeature HP:0006970 biolink:PhenotypicFeature HP:0007068 biolink:PhenotypicFeature HP:0007835 biolink:PhenotypicFeature HP:0008366 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011406 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012110 biolink:PhenotypicFeature Orphanet:444077 biolink:Disease Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000085 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000162 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000378 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0006528 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0100874 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000410 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001607 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002212 biolink:PhenotypicFeature HP:0002616 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002779 biolink:PhenotypicFeature HP:0003038 biolink:PhenotypicFeature HP:0003074 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004602 biolink:PhenotypicFeature HP:0006434 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0009894 biolink:PhenotypicFeature HP:0009937 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0011221 biolink:PhenotypicFeature HP:0025313 biolink:PhenotypicFeature HP:0030043 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:363523 biolink:Disease Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome HP:0000455 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0000972 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001954 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0005338 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0012434 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0040196 biolink:PhenotypicFeature HP:0003160 biolink:PhenotypicFeature Orphanet:363528 biolink:Disease Intellectual disability-strabismus syndrome HP:0000486 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000418 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001771 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0007162 biolink:PhenotypicFeature HP:0012408 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0030353 biolink:PhenotypicFeature HP:0031123 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0005879 biolink:PhenotypicFeature HP:0009473 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0100702 biolink:PhenotypicFeature Orphanet:363611 biolink:Disease CTCF-related neurodevelopmental disorder HP:0000028 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000675 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0010059 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000059 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000378 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001212 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001741 biolink:PhenotypicFeature HP:0002000 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002783 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0006528 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0009183 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0025116 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0040223 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:363659 biolink:Disease 20q11.2 microduplication syndrome HP:0000028 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0011003 biolink:PhenotypicFeature HP:0011825 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100539 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000190 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000422 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001377 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0006191 biolink:PhenotypicFeature HP:0008846 biolink:PhenotypicFeature HP:0009894 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0031008 biolink:PhenotypicFeature HP:0200005 biolink:PhenotypicFeature Orphanet:536532 biolink:Disease Classical-like Ehlers-Danlos syndrome type 2 HP:0000938 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001765 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0031158 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002933 biolink:PhenotypicFeature HP:0004976 biolink:PhenotypicFeature HP:0007457 biolink:PhenotypicFeature HP:0025509 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000692 biolink:PhenotypicFeature HP:0000704 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001780 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002616 biolink:PhenotypicFeature HP:0002619 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002943 biolink:PhenotypicFeature HP:0003042 biolink:PhenotypicFeature HP:0003834 biolink:PhenotypicFeature HP:0003994 biolink:PhenotypicFeature HP:0006243 biolink:PhenotypicFeature HP:0006439 biolink:PhenotypicFeature HP:0006480 biolink:PhenotypicFeature HP:0008138 biolink:PhenotypicFeature HP:0009938 biolink:PhenotypicFeature HP:0010810 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature HP:0025232 biolink:PhenotypicFeature HP:0100546 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature Orphanet:536545 biolink:Disease Kyphoscoliotic Ehlers-Danlos syndrome HP:0001252 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0001027 biolink:PhenotypicFeature HP:0001030 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0008453 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0001058 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003834 biolink:PhenotypicFeature HP:0007023 biolink:PhenotypicFeature HP:0007502 biolink:PhenotypicFeature HP:0010727 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0025019 biolink:PhenotypicFeature HP:0000015 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000422 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001651 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003467 biolink:PhenotypicFeature HP:0003994 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004942 biolink:PhenotypicFeature HP:0004976 biolink:PhenotypicFeature HP:0100309 biolink:PhenotypicFeature Orphanet:536471 biolink:Disease Spondylodysplastic Ehlers-Danlos syndrome HP:0002751 biolink:PhenotypicFeature HP:0002761 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000946 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0000977 biolink:PhenotypicFeature HP:0001027 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004993 biolink:PhenotypicFeature HP:0008453 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000894 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0000973 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001772 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003015 biolink:PhenotypicFeature HP:0003016 biolink:PhenotypicFeature HP:0003048 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003368 biolink:PhenotypicFeature HP:0003370 biolink:PhenotypicFeature HP:0004568 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0008499 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0010575 biolink:PhenotypicFeature HP:0011332 biolink:PhenotypicFeature HP:0011341 biolink:PhenotypicFeature HP:0040160 biolink:PhenotypicFeature HP:0100255 biolink:PhenotypicFeature HP:0100864 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000485 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000588 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001043 biolink:PhenotypicFeature HP:0001054 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0003417 biolink:PhenotypicFeature HP:0004269 biolink:PhenotypicFeature HP:0004442 biolink:PhenotypicFeature HP:0004970 biolink:PhenotypicFeature HP:0007787 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008807 biolink:PhenotypicFeature HP:0009944 biolink:PhenotypicFeature HP:0010754 biolink:PhenotypicFeature HP:0012687 biolink:PhenotypicFeature HP:0040047 biolink:PhenotypicFeature HP:0100777 biolink:PhenotypicFeature Orphanet:536516 biolink:Disease Myopathic Ehlers-Danlos syndrome HP:0001371 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0025335 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0000977 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001058 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002803 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003044 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0005879 biolink:PhenotypicFeature HP:0005988 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006466 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0008366 biolink:PhenotypicFeature HP:0008780 biolink:PhenotypicFeature HP:0009473 biolink:PhenotypicFeature HP:0010499 biolink:PhenotypicFeature HP:0010862 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0040180 biolink:PhenotypicFeature Orphanet:326 biolink:Disease Congenital factor V deficiency HP:0000421 biolink:PhenotypicFeature HP:0005261 biolink:PhenotypicFeature HP:0000132 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001934 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0004846 biolink:PhenotypicFeature HP:0006298 biolink:PhenotypicFeature HP:0007420 biolink:PhenotypicFeature HP:0011890 biolink:PhenotypicFeature HP:0011891 biolink:PhenotypicFeature HP:0030137 biolink:PhenotypicFeature HP:0030140 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002573 biolink:PhenotypicFeature HP:0100608 biolink:PhenotypicFeature Orphanet:760 biolink:Disease Purine nucleoside phosphorylase deficiency HP:0002843 biolink:PhenotypicFeature HP:0011935 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001890 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003537 biolink:PhenotypicFeature HP:0004430 biolink:PhenotypicFeature HP:0005363 biolink:PhenotypicFeature HP:0032166 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0011442 biolink:PhenotypicFeature HP:0045080 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001973 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature Orphanet:2968 biolink:Disease Leukocyte adhesion deficiency HP:0002718 biolink:PhenotypicFeature HP:0011990 biolink:PhenotypicFeature HP:0040238 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000230 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0002841 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0006527 biolink:PhenotypicFeature HP:0007499 biolink:PhenotypicFeature HP:0009098 biolink:PhenotypicFeature HP:0011107 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0000099 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000166 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000825 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001894 biolink:PhenotypicFeature HP:0001901 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0003540 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005575 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0009789 biolink:PhenotypicFeature HP:0011110 biolink:PhenotypicFeature HP:0025452 biolink:PhenotypicFeature HP:0030683 biolink:PhenotypicFeature HP:0031698 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0500035 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0004440 biolink:PhenotypicFeature HP:0004808 biolink:PhenotypicFeature Orphanet:51890 biolink:Disease Anterior cutaneous nerve entrapment syndrome HP:0002027 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0010830 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0012533 biolink:PhenotypicFeature HP:0100963 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0004798 biolink:PhenotypicFeature Orphanet:1302 biolink:Disease Cryptogenic organizing pneumonia HP:0012735 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0011897 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0025179 biolink:PhenotypicFeature HP:0030830 biolink:PhenotypicFeature HP:0031246 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0031994 biolink:PhenotypicFeature HP:0032016 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0025421 biolink:PhenotypicFeature HP:0030166 biolink:PhenotypicFeature Orphanet:3202 biolink:Disease Dehydrated hereditary stomatocytosis HP:0001878 biolink:PhenotypicFeature HP:0001930 biolink:PhenotypicFeature HP:0005502 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001923 biolink:PhenotypicFeature HP:0001972 biolink:PhenotypicFeature HP:0001981 biolink:PhenotypicFeature HP:0003281 biolink:PhenotypicFeature HP:0003573 biolink:PhenotypicFeature HP:0011042 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001046 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0003265 biolink:PhenotypicFeature HP:0004804 biolink:PhenotypicFeature HP:0005518 biolink:PhenotypicFeature HP:0010972 biolink:PhenotypicFeature HP:0012431 biolink:PhenotypicFeature HP:0020063 biolink:PhenotypicFeature HP:0025548 biolink:PhenotypicFeature HP:0001901 biolink:PhenotypicFeature HP:0030242 biolink:PhenotypicFeature HP:0030950 biolink:PhenotypicFeature Orphanet:357225 biolink:Disease Primary non-essential cutis verticis gyrata HP:0010541 biolink:PhenotypicFeature HP:0000290 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002171 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature HP:0006970 biolink:PhenotypicFeature HP:0030455 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0010562 biolink:PhenotypicFeature Orphanet:363444 biolink:Disease THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome HP:0000164 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0003189 biolink:PhenotypicFeature HP:0009765 biolink:PhenotypicFeature HP:0040196 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0006989 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000215 biolink:PhenotypicFeature HP:0000220 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0009890 biolink:PhenotypicFeature HP:0010282 biolink:PhenotypicFeature HP:0011623 biolink:PhenotypicFeature HP:0011682 biolink:PhenotypicFeature HP:0012382 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0030127 biolink:PhenotypicFeature Orphanet:370010 biolink:Disease Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0000219 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0011822 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000273 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0001965 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004602 biolink:PhenotypicFeature HP:0005848 biolink:PhenotypicFeature HP:0009644 biolink:PhenotypicFeature HP:0009648 biolink:PhenotypicFeature HP:0009650 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010041 biolink:PhenotypicFeature HP:0010047 biolink:PhenotypicFeature HP:0010492 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0011939 biolink:PhenotypicFeature HP:0012553 biolink:PhenotypicFeature HP:0012713 biolink:PhenotypicFeature HP:0025502 biolink:PhenotypicFeature Orphanet:369837 biolink:Disease Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome HP:0000248 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0003100 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0003282 biolink:PhenotypicFeature HP:0008676 biolink:PhenotypicFeature HP:0009824 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0012373 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000829 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001723 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002263 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature HP:0002720 biolink:PhenotypicFeature HP:0002850 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0006480 biolink:PhenotypicFeature HP:0006961 biolink:PhenotypicFeature HP:0010536 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0010841 biolink:PhenotypicFeature HP:0010850 biolink:PhenotypicFeature HP:0011199 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0012718 biolink:PhenotypicFeature HP:0025330 biolink:PhenotypicFeature HP:0030856 biolink:PhenotypicFeature Orphanet:2953 biolink:Disease Musculocontractural Ehlers-Danlos syndrome HP:0000028 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000766 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0001238 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001933 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002761 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0005272 biolink:PhenotypicFeature HP:0006184 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0031005 biolink:PhenotypicFeature HP:0031869 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002947 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0007906 biolink:PhenotypicFeature HP:0000009 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0003414 biolink:PhenotypicFeature HP:0100016 biolink:PhenotypicFeature HP:0410030 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0004794 biolink:PhenotypicFeature Orphanet:370022 biolink:Disease Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome HP:0001251 biolink:PhenotypicFeature HP:0002198 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002350 biolink:PhenotypicFeature HP:0007033 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0001105 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0007068 biolink:PhenotypicFeature HP:0011933 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0002599 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature Orphanet:137675 biolink:Disease Histiocytoid cardiomyopathy HP:0001649 biolink:PhenotypicFeature HP:0004755 biolink:PhenotypicFeature HP:0004756 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001678 biolink:PhenotypicFeature HP:0001716 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0002401 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0011712 biolink:PhenotypicFeature HP:0011716 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000485 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0002438 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0004749 biolink:PhenotypicFeature HP:0005110 biolink:PhenotypicFeature HP:0005165 biolink:PhenotypicFeature HP:0005950 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0007707 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0100598 biolink:PhenotypicFeature Orphanet:230851 biolink:Disease Cardiac-valvular Ehlers-Danlos syndrome HP:0000974 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001027 biolink:PhenotypicFeature HP:0001058 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0002616 biolink:PhenotypicFeature HP:0002816 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0006109 biolink:PhenotypicFeature HP:0006201 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0001848 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002944 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0010444 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012717 biolink:PhenotypicFeature HP:0031610 biolink:PhenotypicFeature HP:0100550 biolink:PhenotypicFeature HP:0500041 biolink:PhenotypicFeature Orphanet:369891 biolink:Disease Developmental delay-facial dysmorphism syndrome due to MED13L deficiency HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000711 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0002236 biolink:PhenotypicFeature HP:0002311 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005612 biolink:PhenotypicFeature HP:0007633 biolink:PhenotypicFeature HP:0007700 biolink:PhenotypicFeature HP:0010841 biolink:PhenotypicFeature HP:0011228 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0100025 biolink:PhenotypicFeature Orphanet:466768 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0001315 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0003390 biolink:PhenotypicFeature HP:0007210 biolink:PhenotypicFeature HP:0007327 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0100290 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0003130 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0007002 biolink:PhenotypicFeature HP:0007230 biolink:PhenotypicFeature HP:0008948 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0009129 biolink:PhenotypicFeature HP:0009473 biolink:PhenotypicFeature HP:0010830 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012785 biolink:PhenotypicFeature HP:0040131 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000467 biolink:PhenotypicFeature HP:0001047 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0002411 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003325 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0003797 biolink:PhenotypicFeature HP:0005879 biolink:PhenotypicFeature HP:0006827 biolink:PhenotypicFeature HP:0006970 biolink:PhenotypicFeature HP:0007269 biolink:PhenotypicFeature HP:0007641 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008959 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0012447 biolink:PhenotypicFeature HP:0012473 biolink:PhenotypicFeature HP:0030237 biolink:PhenotypicFeature HP:0031947 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0006597 biolink:PhenotypicFeature Orphanet:35909 biolink:Disease Combined deficiency of factor V and factor VIII HP:0003125 biolink:PhenotypicFeature HP:0003225 biolink:PhenotypicFeature HP:0003645 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0006298 biolink:PhenotypicFeature HP:0011889 biolink:PhenotypicFeature HP:0030137 biolink:PhenotypicFeature HP:0000132 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0004846 biolink:PhenotypicFeature HP:0005261 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature Orphanet:3299 biolink:Disease Tetanus HP:0000211 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002179 biolink:PhenotypicFeature HP:0003552 biolink:PhenotypicFeature HP:0040212 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0005363 biolink:PhenotypicFeature HP:0011355 biolink:PhenotypicFeature HP:0011964 biolink:PhenotypicFeature HP:0025258 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002501 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003345 biolink:PhenotypicFeature HP:0003639 biolink:PhenotypicFeature HP:0005341 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0025145 biolink:PhenotypicFeature HP:0025425 biolink:PhenotypicFeature Orphanet:31202 biolink:Disease Melioidosis HP:0001945 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0011949 biolink:PhenotypicFeature HP:0025044 biolink:PhenotypicFeature HP:0031273 biolink:PhenotypicFeature HP:0031864 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0001743 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0003095 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0025059 biolink:PhenotypicFeature HP:0030049 biolink:PhenotypicFeature HP:0031292 biolink:PhenotypicFeature HP:0032162 biolink:PhenotypicFeature HP:0100523 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0000024 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000197 biolink:PhenotypicFeature HP:0001886 biolink:PhenotypicFeature HP:0011850 biolink:PhenotypicFeature Orphanet:707 biolink:Disease Plague HP:0001945 biolink:PhenotypicFeature HP:0002840 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0011355 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0030953 biolink:PhenotypicFeature HP:0031258 biolink:PhenotypicFeature HP:0031864 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0000206 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002037 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002248 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0004387 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0011499 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011949 biolink:PhenotypicFeature HP:0012219 biolink:PhenotypicFeature HP:0025043 biolink:PhenotypicFeature HP:0025085 biolink:PhenotypicFeature HP:0040181 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0025439 biolink:PhenotypicFeature HP:0100533 biolink:PhenotypicFeature HP:0100584 biolink:PhenotypicFeature Orphanet:31205 biolink:Disease Rat-bite fever HP:0001945 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0012282 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002374 biolink:PhenotypicFeature HP:0002840 biolink:PhenotypicFeature HP:0003095 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0012219 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0025145 biolink:PhenotypicFeature HP:0025439 biolink:PhenotypicFeature HP:0040186 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0040313 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0011850 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0025181 biolink:PhenotypicFeature HP:0025230 biolink:PhenotypicFeature HP:0100584 biolink:PhenotypicFeature Orphanet:31204 biolink:Disease Nocardiosis HP:0001945 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0031245 biolink:PhenotypicFeature HP:0031864 biolink:PhenotypicFeature HP:0032016 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000620 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002102 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0002840 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0011450 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0030049 biolink:PhenotypicFeature HP:0030166 biolink:PhenotypicFeature HP:0031246 biolink:PhenotypicFeature HP:0031292 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0100523 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000575 biolink:PhenotypicFeature HP:0000834 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0012424 biolink:PhenotypicFeature HP:0045026 biolink:PhenotypicFeature HP:0100532 biolink:PhenotypicFeature HP:0100584 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature Orphanet:364577 biolink:Disease Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000175 biolink:PhenotypicFeature HP:0000201 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002263 biolink:PhenotypicFeature HP:0011341 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0000171 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000385 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0000996 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0002000 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0006289 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0009246 biolink:PhenotypicFeature HP:0010752 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0011078 biolink:PhenotypicFeature HP:0011401 biolink:PhenotypicFeature HP:0012370 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0045074 biolink:PhenotypicFeature HP:0100380 biolink:PhenotypicFeature Orphanet:79493 biolink:Disease Brooke-Spiegler syndrome HP:0031024 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000464 biolink:PhenotypicFeature HP:0001965 biolink:PhenotypicFeature HP:0012842 biolink:PhenotypicFeature HP:0025367 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0007606 biolink:PhenotypicFeature HP:0010732 biolink:PhenotypicFeature HP:0025512 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000372 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0010287 biolink:PhenotypicFeature HP:0010288 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0100684 biolink:PhenotypicFeature Orphanet:330064 biolink:Disease Chronic actinic dermatitis HP:0000964 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0025092 biolink:PhenotypicFeature HP:0030350 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0007505 biolink:PhenotypicFeature HP:0007573 biolink:PhenotypicFeature HP:0025127 biolink:PhenotypicFeature HP:0100725 biolink:PhenotypicFeature HP:0001019 biolink:PhenotypicFeature HP:0003193 biolink:PhenotypicFeature Orphanet:331206 biolink:Disease Severe combined immunodeficiency due to complete RAG1/2 deficiency HP:0002720 biolink:PhenotypicFeature HP:0002850 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004315 biolink:PhenotypicFeature HP:0004429 biolink:PhenotypicFeature HP:0010975 biolink:PhenotypicFeature HP:0011839 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0002743 biolink:PhenotypicFeature HP:0002841 biolink:PhenotypicFeature HP:0004385 biolink:PhenotypicFeature HP:0005364 biolink:PhenotypicFeature HP:0031381 biolink:PhenotypicFeature HP:0031402 biolink:PhenotypicFeature HP:0045080 biolink:PhenotypicFeature HP:0200117 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0001890 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002840 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0040089 biolink:PhenotypicFeature Orphanet:275555 biolink:Disease Preeclampsia HP:0000093 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0004421 biolink:PhenotypicFeature HP:0005117 biolink:PhenotypicFeature HP:0100767 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0006707 biolink:PhenotypicFeature HP:0031418 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0005202 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature Orphanet:289504 biolink:Disease Combined malonic and methylmalonic acidemia HP:0002912 biolink:PhenotypicFeature HP:0003215 biolink:PhenotypicFeature HP:0012120 biolink:PhenotypicFeature HP:0040145 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001941 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001993 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002254 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0011169 biolink:PhenotypicFeature HP:0031064 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature Orphanet:464329 biolink:Disease Kaposiform lymphangiomatosis HP:0002086 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature HP:0011900 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025408 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000464 biolink:PhenotypicFeature HP:0000782 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001737 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0003084 biolink:PhenotypicFeature HP:0003174 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0005107 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0011896 biolink:PhenotypicFeature HP:0031095 biolink:PhenotypicFeature HP:0031364 biolink:PhenotypicFeature HP:0040163 biolink:PhenotypicFeature HP:0100310 biolink:PhenotypicFeature HP:0100608 biolink:PhenotypicFeature HP:0100711 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100764 biolink:PhenotypicFeature HP:0000105 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002693 biolink:PhenotypicFeature HP:0012740 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0045026 biolink:PhenotypicFeature HP:0100763 biolink:PhenotypicFeature HP:0100766 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature Orphanet:1190 biolink:Disease Atelosteogenesis type I HP:0000774 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature HP:0003097 biolink:PhenotypicFeature HP:0003417 biolink:PhenotypicFeature HP:0004599 biolink:PhenotypicFeature HP:0005257 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0009107 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001602 biolink:PhenotypicFeature HP:0002280 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0004785 biolink:PhenotypicFeature HP:0004894 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0007973 biolink:PhenotypicFeature HP:0008857 biolink:PhenotypicFeature HP:0030992 biolink:PhenotypicFeature Orphanet:398124 biolink:Disease Neonatal lupus erythematosus HP:0030057 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001871 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001036 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001678 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012722 biolink:PhenotypicFeature HP:0025300 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0040186 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001915 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002135 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0011702 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature Orphanet:399180 biolink:Disease Secondary non-traumatic avascular necrosis HP:0010885 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0030955 biolink:PhenotypicFeature HP:0001370 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0003549 biolink:PhenotypicFeature HP:0004377 biolink:PhenotypicFeature HP:0031520 biolink:PhenotypicFeature HP:0100724 biolink:PhenotypicFeature Orphanet:468631 biolink:Disease Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000252 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001525 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000125 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000315 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002247 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0002539 biolink:PhenotypicFeature HP:0004742 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006466 biolink:PhenotypicFeature HP:0006870 biolink:PhenotypicFeature HP:0006872 biolink:PhenotypicFeature HP:0006955 biolink:PhenotypicFeature HP:0007165 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007333 biolink:PhenotypicFeature HP:0007633 biolink:PhenotypicFeature HP:0007843 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0009879 biolink:PhenotypicFeature HP:0009905 biolink:PhenotypicFeature HP:0010692 biolink:PhenotypicFeature HP:0010705 biolink:PhenotypicFeature HP:0010767 biolink:PhenotypicFeature HP:0012110 biolink:PhenotypicFeature HP:0012294 biolink:PhenotypicFeature HP:0030260 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100702 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:329224 biolink:Disease Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0012523 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000699 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001195 biolink:PhenotypicFeature HP:0001238 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002389 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002951 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005421 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0010821 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0012210 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature Orphanet:324540 biolink:Disease Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome HP:0000059 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001602 biolink:PhenotypicFeature HP:0001686 biolink:PhenotypicFeature HP:0001799 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0008757 biolink:PhenotypicFeature HP:0009183 biolink:PhenotypicFeature HP:0009537 biolink:PhenotypicFeature HP:0009600 biolink:PhenotypicFeature HP:0010066 biolink:PhenotypicFeature HP:0010193 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000064 biolink:PhenotypicFeature HP:0030276 biolink:PhenotypicFeature Orphanet:319675 biolink:Disease Microcephalic primordial dwarfism, Dauber type HP:0000252 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0001191 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001607 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003067 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004220 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004626 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008846 biolink:PhenotypicFeature HP:0008850 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012814 biolink:PhenotypicFeature Orphanet:264580 biolink:Disease Glycogen storage disease due to liver phosphorylase kinase deficiency HP:0002240 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0030272 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001946 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003162 biolink:PhenotypicFeature HP:0410175 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000858 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002913 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003323 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030232 biolink:PhenotypicFeature HP:0100607 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001947 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002040 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0004324 biolink:PhenotypicFeature HP:0006580 biolink:PhenotypicFeature HP:0012028 biolink:PhenotypicFeature Orphanet:268810 biolink:Disease Posterior meningocele HP:0002435 biolink:PhenotypicFeature HP:0045005 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000805 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0002144 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002375 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0002436 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0003438 biolink:PhenotypicFeature HP:0005986 biolink:PhenotypicFeature HP:0006986 biolink:PhenotypicFeature HP:0008467 biolink:PhenotypicFeature HP:0010550 biolink:PhenotypicFeature HP:0025480 biolink:PhenotypicFeature HP:0040194 biolink:PhenotypicFeature HP:0100565 biolink:PhenotypicFeature Orphanet:352490 biolink:Disease Autism spectrum disorder due to AUTS2 deficiency HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008762 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0025112 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002803 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0004283 biolink:PhenotypicFeature HP:0005274 biolink:PhenotypicFeature HP:0006184 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0009183 biolink:PhenotypicFeature HP:0009473 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0100277 biolink:PhenotypicFeature Orphanet:2038 biolink:Disease Pulmonary arteriovenous malformation HP:0001009 biolink:PhenotypicFeature HP:0004952 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002140 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0012151 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001217 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001891 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0001977 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0006689 biolink:PhenotypicFeature HP:0011919 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0030049 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0040223 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002722 biolink:PhenotypicFeature HP:0005244 biolink:PhenotypicFeature HP:0100523 biolink:PhenotypicFeature Orphanet:83454 biolink:Disease Glomuvenous malformation HP:0012721 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature HP:0011297 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature HP:0011355 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature HP:0002629 biolink:PhenotypicFeature HP:0002778 biolink:PhenotypicFeature HP:0010640 biolink:PhenotypicFeature HP:0012210 biolink:PhenotypicFeature HP:0031445 biolink:PhenotypicFeature HP:0045026 biolink:PhenotypicFeature Orphanet:90647 biolink:Disease Jervell and Lange-Nielsen syndrome HP:0005184 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0011476 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001664 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0030973 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001663 biolink:PhenotypicFeature HP:0001891 biolink:PhenotypicFeature Orphanet:414 biolink:Disease Gyrate atrophy of choroid and retina HP:0000529 biolink:PhenotypicFeature HP:0000533 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0012026 biolink:PhenotypicFeature HP:0200065 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000523 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0001103 biolink:PhenotypicFeature HP:0001133 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0007675 biolink:PhenotypicFeature HP:0040031 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature Orphanet:1930 biolink:Disease Herpes simplex virus encephalitis HP:0002353 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0200149 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0011897 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0031179 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002181 biolink:PhenotypicFeature HP:0002349 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0011972 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0030955 biolink:PhenotypicFeature Orphanet:1945 biolink:Disease Rolandic epilepsy HP:0012557 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0007332 biolink:PhenotypicFeature HP:0007334 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0025425 biolink:PhenotypicFeature HP:0040168 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001575 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0012534 biolink:PhenotypicFeature HP:0001326 biolink:PhenotypicFeature HP:0007270 biolink:PhenotypicFeature Orphanet:292 biolink:Disease Congenital enterovirus infection HP:0000988 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0025031 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001791 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature HP:0011121 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0025116 biolink:PhenotypicFeature HP:0200149 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0004311 biolink:PhenotypicFeature Orphanet:371428 biolink:Disease Multicentric osteolysis-nodulosis-arthropathy spectrum HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001495 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0003040 biolink:PhenotypicFeature HP:0005922 biolink:PhenotypicFeature HP:0006234 biolink:PhenotypicFeature HP:0009139 biolink:PhenotypicFeature HP:0045039 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000916 biolink:PhenotypicFeature HP:0001230 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0005441 biolink:PhenotypicFeature HP:0011355 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000315 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001059 biolink:PhenotypicFeature HP:0001085 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001678 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001719 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0005994 biolink:PhenotypicFeature HP:0010314 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature Orphanet:1546 biolink:Disease Cryptococcosis HP:0001945 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025392 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003690 biolink:PhenotypicFeature HP:0031179 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0000024 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000479 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001291 biolink:PhenotypicFeature HP:0002181 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0005526 biolink:PhenotypicFeature HP:0011531 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:2552 biolink:Disease Microsporidiosis HP:0001824 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002254 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0005407 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0011277 biolink:PhenotypicFeature HP:0012384 biolink:PhenotypicFeature HP:0012387 biolink:PhenotypicFeature HP:0000024 biolink:PhenotypicFeature HP:0000123 biolink:PhenotypicFeature HP:0000206 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000828 biolink:PhenotypicFeature HP:0000849 biolink:PhenotypicFeature HP:0001080 biolink:PhenotypicFeature HP:0001096 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001743 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0002778 biolink:PhenotypicFeature HP:0002840 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0005561 biolink:PhenotypicFeature HP:0008777 biolink:PhenotypicFeature HP:0011027 biolink:PhenotypicFeature HP:0011950 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012804 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0025439 biolink:PhenotypicFeature HP:0030049 biolink:PhenotypicFeature HP:0030126 biolink:PhenotypicFeature HP:0030151 biolink:PhenotypicFeature HP:0100584 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature HP:0500006 biolink:PhenotypicFeature Orphanet:91547 biolink:Disease Relapsing fever HP:0001873 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0003573 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0031179 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0011897 biolink:PhenotypicFeature HP:0011899 biolink:PhenotypicFeature Orphanet:357175 biolink:Disease Short ulna-dysmorphism-hypotonia-intellectual disability syndrome HP:0000219 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:357001 biolink:Disease 19p13.13 microdeletion syndrome HP:0000256 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0012719 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0001869 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007099 biolink:PhenotypicFeature HP:0007333 biolink:PhenotypicFeature HP:0007371 biolink:PhenotypicFeature HP:0010880 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature Orphanet:356996 biolink:Disease ANK3-related intellectual disability-sleep disturbance syndrome HP:0000718 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0003763 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature Orphanet:84064 biolink:Disease Syndromic diarrhea HP:0001999 biolink:PhenotypicFeature HP:0002041 biolink:PhenotypicFeature HP:0002224 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002299 biolink:PhenotypicFeature HP:0003139 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0009886 biolink:PhenotypicFeature HP:0011121 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011473 biolink:PhenotypicFeature HP:0025156 biolink:PhenotypicFeature HP:0030056 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001894 biolink:PhenotypicFeature HP:0002583 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0005263 biolink:PhenotypicFeature HP:0011031 biolink:PhenotypicFeature HP:0011877 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000113 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000778 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002884 biolink:PhenotypicFeature HP:0004969 biolink:PhenotypicFeature HP:0007513 biolink:PhenotypicFeature HP:0025085 biolink:PhenotypicFeature Orphanet:86816 biolink:Disease Congenital analbuminemia HP:0000969 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0003075 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0005413 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000282 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0002783 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0030851 biolink:PhenotypicFeature Orphanet:99147 biolink:Disease Acquired von Willebrand syndrome HP:0003125 biolink:PhenotypicFeature HP:0004377 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0008330 biolink:PhenotypicFeature HP:0030129 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0000132 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000471 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001897 biolink:PhenotypicFeature HP:0001931 biolink:PhenotypicFeature HP:0001933 biolink:PhenotypicFeature HP:0001934 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002249 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0005261 biolink:PhenotypicFeature HP:0005505 biolink:PhenotypicFeature HP:0025406 biolink:PhenotypicFeature HP:0100608 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature Orphanet:621 biolink:Disease Hereditary methemoglobinemia HP:0000961 biolink:PhenotypicFeature HP:0012119 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0025118 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature HP:0002305 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0006808 biolink:PhenotypicFeature HP:0006913 biolink:PhenotypicFeature HP:0007112 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012697 biolink:PhenotypicFeature Orphanet:3203 biolink:Disease Overhydrated hereditary stomatocytosis HP:0001878 biolink:PhenotypicFeature HP:0001923 biolink:PhenotypicFeature HP:0004446 biolink:PhenotypicFeature HP:0005502 biolink:PhenotypicFeature HP:0025065 biolink:PhenotypicFeature HP:0025547 biolink:PhenotypicFeature HP:0001046 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001977 biolink:PhenotypicFeature HP:0011273 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature Orphanet:293725 biolink:Disease Blepharophimosis-intellectual disability syndrome, Verloes type HP:0000581 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0100587 biolink:PhenotypicFeature HP:0000185 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000391 biolink:PhenotypicFeature HP:0000395 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000437 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000807 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0002190 biolink:PhenotypicFeature HP:0002339 biolink:PhenotypicFeature HP:0005274 biolink:PhenotypicFeature HP:0006191 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0006970 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature HP:0010761 biolink:PhenotypicFeature HP:0011251 biolink:PhenotypicFeature Orphanet:300305 biolink:Disease 11p15.4 microduplication syndrome HP:0000708 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0011094 biolink:PhenotypicFeature HP:0012389 biolink:PhenotypicFeature Orphanet:300573 biolink:Disease Polymicrogyria due to TUBB2B mutation HP:0002126 biolink:PhenotypicFeature HP:0002539 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002282 biolink:PhenotypicFeature HP:0002339 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0002389 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007095 biolink:PhenotypicFeature HP:0007301 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0012110 biolink:PhenotypicFeature HP:0012377 biolink:PhenotypicFeature HP:0025102 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0010636 biolink:PhenotypicFeature Orphanet:313781 biolink:Disease 20p13 microdeletion syndrome HP:0001270 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0040111 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0008589 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0045025 biolink:PhenotypicFeature Orphanet:284417 biolink:Disease Phosphoserine aminotransferase deficiency, infantile/juvenile form HP:0001531 biolink:PhenotypicFeature HP:0002154 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0012279 biolink:PhenotypicFeature HP:0012736 biolink:PhenotypicFeature HP:0030215 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0012430 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001776 biolink:PhenotypicFeature HP:0002392 biolink:PhenotypicFeature HP:0003121 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006466 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0007704 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0009879 biolink:PhenotypicFeature HP:0011097 biolink:PhenotypicFeature HP:0011196 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0200048 biolink:PhenotypicFeature Orphanet:289266 biolink:Disease Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation HP:0000708 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010844 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012736 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0002506 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0011097 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0012171 biolink:PhenotypicFeature HP:0012447 biolink:PhenotypicFeature HP:0012547 biolink:PhenotypicFeature HP:0040168 biolink:PhenotypicFeature Orphanet:289483 biolink:Disease Intellectual disability-alacrima-achalasia syndrome HP:0000522 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0012434 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0002571 biolink:PhenotypicFeature HP:0009916 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000805 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0000834 biolink:PhenotypicFeature Orphanet:293707 biolink:Disease Blepharophimosis-intellectual disability syndrome, MKB type HP:0000280 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature Orphanet:254519 biolink:Disease Kagami-Ogata syndrome HP:0000289 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001591 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0005257 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006267 biolink:PhenotypicFeature HP:0006665 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0025336 biolink:PhenotypicFeature HP:0000205 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001540 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0011335 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0001548 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0002884 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature Orphanet:261323 biolink:Disease 21q22.11q22.12 microdeletion syndrome HP:0001873 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006979 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001106 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002557 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003086 biolink:PhenotypicFeature HP:0003763 biolink:PhenotypicFeature HP:0007874 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0009226 biolink:PhenotypicFeature HP:0009597 biolink:PhenotypicFeature HP:0010230 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012172 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0030215 biolink:PhenotypicFeature HP:0030799 biolink:PhenotypicFeature HP:0100703 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:263410 biolink:Disease Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome HP:0001263 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature HP:0012697 biolink:PhenotypicFeature HP:0000711 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0007105 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0012747 biolink:PhenotypicFeature HP:0030215 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature Orphanet:280384 biolink:Disease Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome HP:0001344 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0003121 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006466 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0007350 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0040111 biolink:PhenotypicFeature HP:0100712 biolink:PhenotypicFeature Orphanet:93320 biolink:Disease Ulnar hemimelia HP:0006495 biolink:PhenotypicFeature HP:0001180 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002986 biolink:PhenotypicFeature HP:0002996 biolink:PhenotypicFeature HP:0003059 biolink:PhenotypicFeature HP:0004059 biolink:PhenotypicFeature HP:0005773 biolink:PhenotypicFeature HP:0006055 biolink:PhenotypicFeature HP:0040065 biolink:PhenotypicFeature HP:0000882 biolink:PhenotypicFeature HP:0001377 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003041 biolink:PhenotypicFeature HP:0003083 biolink:PhenotypicFeature HP:0003316 biolink:PhenotypicFeature HP:0003887 biolink:PhenotypicFeature HP:0003967 biolink:PhenotypicFeature HP:0005879 biolink:PhenotypicFeature HP:0006376 biolink:PhenotypicFeature HP:0006467 biolink:PhenotypicFeature HP:0006633 biolink:PhenotypicFeature HP:0009164 biolink:PhenotypicFeature HP:0009238 biolink:PhenotypicFeature HP:0009281 biolink:PhenotypicFeature HP:0009471 biolink:PhenotypicFeature HP:0009701 biolink:PhenotypicFeature HP:0009702 biolink:PhenotypicFeature HP:0009760 biolink:PhenotypicFeature HP:0009813 biolink:PhenotypicFeature HP:0009959 biolink:PhenotypicFeature HP:0010011 biolink:PhenotypicFeature HP:0010048 biolink:PhenotypicFeature HP:0010176 biolink:PhenotypicFeature HP:0010301 biolink:PhenotypicFeature HP:0010331 biolink:PhenotypicFeature HP:0030835 biolink:PhenotypicFeature HP:0100558 biolink:PhenotypicFeature HP:0100745 biolink:PhenotypicFeature Orphanet:3003 biolink:Disease Pyknoachondrogenesis HP:0000369 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000773 biolink:PhenotypicFeature HP:0000888 biolink:PhenotypicFeature HP:0002694 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003175 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0004493 biolink:PhenotypicFeature HP:0008817 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0011338 biolink:PhenotypicFeature HP:0011867 biolink:PhenotypicFeature HP:0012790 biolink:PhenotypicFeature HP:0030290 biolink:PhenotypicFeature HP:0040194 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0100625 biolink:PhenotypicFeature HP:0100748 biolink:PhenotypicFeature HP:0100856 biolink:PhenotypicFeature HP:0100866 biolink:PhenotypicFeature Orphanet:96148 biolink:Disease Distal monosomy 10q HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000805 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002280 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001349 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002389 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005709 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007068 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature HP:0008527 biolink:PhenotypicFeature HP:0010743 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000009 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000349 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001212 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0008554 biolink:PhenotypicFeature HP:0011376 biolink:PhenotypicFeature Orphanet:93322 biolink:Disease Tibial hemimelia HP:0001762 biolink:PhenotypicFeature HP:0009556 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0004987 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001839 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0001849 biolink:PhenotypicFeature HP:0003974 biolink:PhenotypicFeature HP:0004059 biolink:PhenotypicFeature HP:0005736 biolink:PhenotypicFeature HP:0005892 biolink:PhenotypicFeature HP:0006426 biolink:PhenotypicFeature HP:0006460 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0010037 biolink:PhenotypicFeature HP:0010043 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature HP:0010554 biolink:PhenotypicFeature HP:0012165 biolink:PhenotypicFeature HP:0012386 biolink:PhenotypicFeature HP:0030032 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature Orphanet:217563 biolink:Disease Neonatal acute respiratory distress due to SP-B deficiency HP:0002643 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0006517 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0031457 biolink:PhenotypicFeature HP:0001667 biolink:PhenotypicFeature HP:0004876 biolink:PhenotypicFeature HP:0006515 biolink:PhenotypicFeature HP:0006528 biolink:PhenotypicFeature Orphanet:216694 biolink:Disease Congenitally corrected transposition of the great arteries HP:0001627 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001702 biolink:PhenotypicFeature HP:0006705 biolink:PhenotypicFeature HP:0011103 biolink:PhenotypicFeature HP:0011553 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0005150 biolink:PhenotypicFeature HP:0011539 biolink:PhenotypicFeature HP:0011552 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0031546 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001651 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001696 biolink:PhenotypicFeature HP:0001709 biolink:PhenotypicFeature HP:0001716 biolink:PhenotypicFeature HP:0001750 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0004755 biolink:PhenotypicFeature HP:0004935 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0005185 biolink:PhenotypicFeature HP:0006699 biolink:PhenotypicFeature HP:0010316 biolink:PhenotypicFeature HP:0011538 biolink:PhenotypicFeature HP:0011581 biolink:PhenotypicFeature HP:0011590 biolink:PhenotypicFeature HP:0011621 biolink:PhenotypicFeature HP:0011663 biolink:PhenotypicFeature HP:0011667 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011682 biolink:PhenotypicFeature HP:0011688 biolink:PhenotypicFeature HP:0011704 biolink:PhenotypicFeature HP:0011705 biolink:PhenotypicFeature HP:0011707 biolink:PhenotypicFeature HP:0012537 biolink:PhenotypicFeature HP:0012722 biolink:PhenotypicFeature HP:0031567 biolink:PhenotypicFeature HP:0004749 biolink:PhenotypicFeature HP:0004756 biolink:PhenotypicFeature HP:0011599 biolink:PhenotypicFeature Orphanet:95455 biolink:Disease Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum HP:0001945 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030953 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000600 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0012384 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025426 biolink:PhenotypicFeature HP:0025439 biolink:PhenotypicFeature HP:0031464 biolink:PhenotypicFeature HP:0100792 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0200097 biolink:PhenotypicFeature HP:0200136 biolink:PhenotypicFeature HP:0000036 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001128 biolink:PhenotypicFeature HP:0001600 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0004378 biolink:PhenotypicFeature HP:0004386 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0008682 biolink:PhenotypicFeature HP:0010285 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature HP:0012122 biolink:PhenotypicFeature HP:0012375 biolink:PhenotypicFeature HP:0012594 biolink:PhenotypicFeature HP:0025416 biolink:PhenotypicFeature HP:0030943 biolink:PhenotypicFeature HP:0031088 biolink:PhenotypicFeature HP:0031731 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature HP:0200020 biolink:PhenotypicFeature HP:0430007 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0001798 biolink:PhenotypicFeature HP:0006528 biolink:PhenotypicFeature HP:0031368 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:314575 biolink:Disease Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome HP:0000218 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008689 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature Orphanet:313947 biolink:Disease 2q23.1 microduplication syndrome HP:0000154 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000817 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002370 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005274 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature Orphanet:319171 biolink:Disease Distal 17p13.1 microdeletion syndrome HP:0000252 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011094 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0002761 biolink:PhenotypicFeature HP:0002996 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0005922 biolink:PhenotypicFeature HP:0006927 biolink:PhenotypicFeature HP:0010501 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0010850 biolink:PhenotypicFeature Orphanet:314679 biolink:Disease Cerebrofacioarticular syndrome HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002778 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001545 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002025 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002282 biolink:PhenotypicFeature HP:0002779 biolink:PhenotypicFeature HP:0002825 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006989 biolink:PhenotypicFeature HP:0008197 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0040079 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0200138 biolink:PhenotypicFeature Orphanet:2583 biolink:Disease Mycetoma HP:0001015 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0002841 biolink:PhenotypicFeature HP:0003330 biolink:PhenotypicFeature HP:0005406 biolink:PhenotypicFeature HP:0010219 biolink:PhenotypicFeature HP:0030053 biolink:PhenotypicFeature HP:0031288 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0011844 biolink:PhenotypicFeature HP:0025245 biolink:PhenotypicFeature HP:0040072 biolink:PhenotypicFeature HP:0100763 biolink:PhenotypicFeature HP:0000152 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0002661 biolink:PhenotypicFeature HP:0002756 biolink:PhenotypicFeature HP:0002953 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0010550 biolink:PhenotypicFeature HP:0012062 biolink:PhenotypicFeature HP:0031500 biolink:PhenotypicFeature HP:0031501 biolink:PhenotypicFeature HP:0100809 biolink:PhenotypicFeature Orphanet:509 biolink:Disease Leptospirosis HP:0001873 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002152 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0008150 biolink:PhenotypicFeature HP:0030953 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0011705 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0025439 biolink:PhenotypicFeature HP:0031197 biolink:PhenotypicFeature HP:0040223 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000573 biolink:PhenotypicFeature HP:0001085 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011896 biolink:PhenotypicFeature HP:0012424 biolink:PhenotypicFeature HP:0030497 biolink:PhenotypicFeature HP:0100653 biolink:PhenotypicFeature Orphanet:247598 biolink:Disease Neonatal intrahepatic cholestasis due to citrin deficiency HP:0000952 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003119 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0006254 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0011966 biolink:PhenotypicFeature HP:0012024 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0030948 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002161 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003231 biolink:PhenotypicFeature HP:0010903 biolink:PhenotypicFeature HP:0010909 biolink:PhenotypicFeature HP:0010916 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002919 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003141 biolink:PhenotypicFeature HP:0003233 biolink:PhenotypicFeature HP:0003235 biolink:PhenotypicFeature HP:0003354 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0012278 biolink:PhenotypicFeature HP:0040301 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature Orphanet:93397 biolink:Disease Brachydactyly type A7 HP:0001822 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0009843 biolink:PhenotypicFeature HP:0010109 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0008096 biolink:PhenotypicFeature HP:0009464 biolink:PhenotypicFeature HP:0009467 biolink:PhenotypicFeature HP:0009523 biolink:PhenotypicFeature HP:0009536 biolink:PhenotypicFeature HP:0009576 biolink:PhenotypicFeature HP:0009642 biolink:PhenotypicFeature HP:0009700 biolink:PhenotypicFeature HP:0010348 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0100394 biolink:PhenotypicFeature Orphanet:26791 biolink:Disease Multiple acyl-CoA dehydrogenase deficiency HP:0001252 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0009020 biolink:PhenotypicFeature HP:0000118 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002614 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003150 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003219 biolink:PhenotypicFeature HP:0003234 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003344 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0003648 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012240 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0030199 biolink:PhenotypicFeature HP:0045045 biolink:PhenotypicFeature HP:0000078 biolink:PhenotypicFeature HP:0000113 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001735 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002171 biolink:PhenotypicFeature HP:0002282 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0006543 biolink:PhenotypicFeature HP:0006582 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature Orphanet:30391 biolink:Disease Isolated biliary atresia HP:0000952 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001525 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002630 biolink:PhenotypicFeature HP:0002908 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0011984 biolink:PhenotypicFeature HP:0011985 biolink:PhenotypicFeature HP:0030948 biolink:PhenotypicFeature HP:0040321 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001405 biolink:PhenotypicFeature HP:0001408 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0040075 biolink:PhenotypicFeature HP:0001114 biolink:PhenotypicFeature Orphanet:397941 biolink:Disease MAN1B1-CDG HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0012301 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000973 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0004523 biolink:PhenotypicFeature HP:0010801 biolink:PhenotypicFeature HP:0010814 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0007165 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0012472 biolink:PhenotypicFeature Orphanet:443811 biolink:Disease PGM3-CDG HP:0000964 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0005407 biolink:PhenotypicFeature HP:0031292 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0001047 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0002923 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature HP:0003237 biolink:PhenotypicFeature HP:0004429 biolink:PhenotypicFeature HP:0005403 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0031402 biolink:PhenotypicFeature HP:0045080 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0200029 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000793 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001904 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002841 biolink:PhenotypicFeature HP:0003193 biolink:PhenotypicFeature HP:0003261 biolink:PhenotypicFeature HP:0004430 biolink:PhenotypicFeature HP:0004789 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0007083 biolink:PhenotypicFeature HP:0008587 biolink:PhenotypicFeature HP:0011109 biolink:PhenotypicFeature HP:0031393 biolink:PhenotypicFeature HP:0031394 biolink:PhenotypicFeature HP:0040148 biolink:PhenotypicFeature HP:0040218 biolink:PhenotypicFeature HP:0045025 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0200101 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0100633 biolink:PhenotypicFeature Orphanet:370930 biolink:Disease XYLT1-CDG HP:0000252 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000885 biolink:PhenotypicFeature HP:0000894 biolink:PhenotypicFeature HP:0001027 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0003015 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0100864 biolink:PhenotypicFeature HP:0500011 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature Orphanet:329178 biolink:Disease Congenital muscular dystrophy with intellectual disability and severe epilepsy HP:0000253 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002058 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003642 biolink:PhenotypicFeature HP:0005781 biolink:PhenotypicFeature HP:0007179 biolink:PhenotypicFeature HP:0011169 biolink:PhenotypicFeature HP:0200134 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001976 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0010851 biolink:PhenotypicFeature HP:0012762 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature Orphanet:363417 biolink:Disease Temtamy preaxial brachydactyly syndrome HP:0009942 biolink:PhenotypicFeature HP:0011297 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0001090 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001566 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0006152 biolink:PhenotypicFeature HP:0008625 biolink:PhenotypicFeature HP:0009608 biolink:PhenotypicFeature HP:0009944 biolink:PhenotypicFeature HP:0009966 biolink:PhenotypicFeature HP:0009970 biolink:PhenotypicFeature HP:0011087 biolink:PhenotypicFeature HP:0100266 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000517 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000692 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005037 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0009466 biolink:PhenotypicFeature HP:0010109 biolink:PhenotypicFeature HP:0010554 biolink:PhenotypicFeature HP:0011078 biolink:PhenotypicFeature HP:0012795 biolink:PhenotypicFeature HP:0040022 biolink:PhenotypicFeature HP:0040159 biolink:PhenotypicFeature HP:0100345 biolink:PhenotypicFeature HP:0100347 biolink:PhenotypicFeature Orphanet:280333 biolink:Disease Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 HP:0003236 biolink:PhenotypicFeature HP:0006785 biolink:PhenotypicFeature HP:0030099 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0003391 biolink:PhenotypicFeature HP:0003707 biolink:PhenotypicFeature HP:0006466 biolink:PhenotypicFeature Orphanet:324737 biolink:Disease SRD5A3-CDG HP:0000648 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0003642 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001935 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0007766 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0001976 biolink:PhenotypicFeature HP:0002334 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0005107 biolink:PhenotypicFeature HP:0005585 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0001595 biolink:PhenotypicFeature Orphanet:263508 biolink:Disease COG1-CDG HP:0000201 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000902 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001103 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002280 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003316 biolink:PhenotypicFeature HP:0004582 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0011995 biolink:PhenotypicFeature HP:0012301 biolink:PhenotypicFeature HP:0030282 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000253 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000475 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0003180 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0007033 biolink:PhenotypicFeature HP:0007112 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature Orphanet:280071 biolink:Disease ALG11-CDG HP:0000735 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0003160 biolink:PhenotypicFeature HP:0003642 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002179 biolink:PhenotypicFeature HP:0002282 biolink:PhenotypicFeature HP:0002375 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0002572 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0005968 biolink:PhenotypicFeature HP:0008000 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0009124 biolink:PhenotypicFeature HP:0010851 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012704 biolink:PhenotypicFeature HP:0012762 biolink:PhenotypicFeature Orphanet:263487 biolink:Disease COG5-CDG HP:0000750 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000599 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002506 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003160 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0007366 biolink:PhenotypicFeature HP:0009473 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012762 biolink:PhenotypicFeature HP:0040019 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0100678 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature Orphanet:163665 biolink:Disease Spondyloepiphyseal dysplasia tarda, Kohn type HP:0000926 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0002867 biolink:PhenotypicFeature HP:0003028 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0003521 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005193 biolink:PhenotypicFeature HP:0010665 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature Orphanet:95428 biolink:Disease COG8-CDG HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002243 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0007267 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012537 biolink:PhenotypicFeature HP:0000253 biolink:PhenotypicFeature HP:0001137 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0006846 biolink:PhenotypicFeature HP:0007366 biolink:PhenotypicFeature HP:0007420 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature Orphanet:206559 biolink:Disease POMT2-related limb-girdle muscular dystrophy R14 HP:0003236 biolink:PhenotypicFeature HP:0006785 biolink:PhenotypicFeature HP:0030099 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0007126 biolink:PhenotypicFeature HP:0030197 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0003697 biolink:PhenotypicFeature HP:0006913 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0011712 biolink:PhenotypicFeature HP:0025169 biolink:PhenotypicFeature Orphanet:254516 biolink:Disease Temple syndrome HP:0000826 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001988 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0007429 biolink:PhenotypicFeature Orphanet:250972 biolink:Disease Polymicrogyria with optic nerve hypoplasia HP:0000609 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0030048 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002365 biolink:PhenotypicFeature HP:0006989 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature Orphanet:247262 biolink:Disease Hyperphosphatasia-intellectual disability syndrome HP:0000316 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0006118 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000289 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000378 biolink:PhenotypicFeature HP:0000391 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000594 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001009 biolink:PhenotypicFeature HP:0001195 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001545 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002392 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002696 biolink:PhenotypicFeature HP:0006808 biolink:PhenotypicFeature HP:0010850 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0040194 biolink:PhenotypicFeature HP:0040195 biolink:PhenotypicFeature Orphanet:352675 biolink:Disease X-linked Charcot-Marie-Tooth disease type 6 HP:0000762 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003438 biolink:PhenotypicFeature HP:0003482 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0003393 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature Orphanet:319671 biolink:Disease Alazami syndrome HP:0000154 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0040196 biolink:PhenotypicFeature HP:0045025 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0100738 biolink:PhenotypicFeature HP:0000315 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000742 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003100 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0012171 biolink:PhenotypicFeature Orphanet:228426 biolink:Disease Syndromic multisystem autoimmune disease due to Itch deficiency HP:0001263 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0006528 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001971 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0025379 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001904 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002242 biolink:PhenotypicFeature HP:0003262 biolink:PhenotypicFeature HP:0003453 biolink:PhenotypicFeature HP:0006554 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0025329 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0030151 biolink:PhenotypicFeature HP:0031104 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature Orphanet:221120 biolink:Disease Pseudoaminopterin syndrome HP:0000028 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002236 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002996 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0009911 biolink:PhenotypicFeature HP:0010657 biolink:PhenotypicFeature HP:0040064 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000387 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000884 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001238 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001746 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0001864 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0003473 biolink:PhenotypicFeature HP:0004442 biolink:PhenotypicFeature HP:0004684 biolink:PhenotypicFeature HP:0005048 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0008598 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0009739 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0010044 biolink:PhenotypicFeature HP:0010767 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0025193 biolink:PhenotypicFeature HP:0030043 biolink:PhenotypicFeature HP:0040025 biolink:PhenotypicFeature HP:0100259 biolink:PhenotypicFeature HP:0100759 biolink:PhenotypicFeature Orphanet:217017 biolink:Disease Zechi-Ceide syndrome HP:0000175 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000363 biolink:PhenotypicFeature HP:0000402 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0000932 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0001833 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0004470 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010743 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0045025 biolink:PhenotypicFeature HP:0410030 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0004451 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0012704 biolink:PhenotypicFeature HP:0100874 biolink:PhenotypicFeature Orphanet:209905 biolink:Disease Brain-lung-thyroid syndrome HP:0000021 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000829 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001955 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002389 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature HP:0002679 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0030082 biolink:PhenotypicFeature HP:0100738 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000851 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002186 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002311 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002925 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0008188 biolink:PhenotypicFeature HP:0008223 biolink:PhenotypicFeature HP:0011780 biolink:PhenotypicFeature Orphanet:477774 biolink:Disease Combined oxidative phosphorylation defect type 27 HP:0000365 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002506 biolink:PhenotypicFeature HP:0003200 biolink:PhenotypicFeature HP:0008347 biolink:PhenotypicFeature HP:0011923 biolink:PhenotypicFeature HP:0011924 biolink:PhenotypicFeature HP:0031165 biolink:PhenotypicFeature HP:0200134 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001790 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0007351 biolink:PhenotypicFeature HP:0010853 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0025517 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0100275 biolink:PhenotypicFeature Orphanet:468699 biolink:Disease SLC39A8-CDG HP:0002187 biolink:PhenotypicFeature HP:0006829 biolink:PhenotypicFeature HP:0008277 biolink:PhenotypicFeature HP:0012301 biolink:PhenotypicFeature HP:0012736 biolink:PhenotypicFeature HP:0032098 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0025405 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002882 biolink:PhenotypicFeature HP:0002928 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006558 biolink:PhenotypicFeature HP:0008314 biolink:PhenotypicFeature HP:0008347 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0010621 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature Orphanet:169160 biolink:Disease T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta HP:0002719 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0003460 biolink:PhenotypicFeature HP:0004315 biolink:PhenotypicFeature HP:0008866 biolink:PhenotypicFeature HP:0031381 biolink:PhenotypicFeature HP:0045080 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0001019 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002722 biolink:PhenotypicFeature HP:0004385 biolink:PhenotypicFeature HP:0005353 biolink:PhenotypicFeature HP:0005401 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0009098 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature Orphanet:169154 biolink:Disease T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency HP:0002719 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0005364 biolink:PhenotypicFeature HP:0005403 biolink:PhenotypicFeature HP:0005407 biolink:PhenotypicFeature HP:0005415 biolink:PhenotypicFeature HP:0031381 biolink:PhenotypicFeature HP:0045080 biolink:PhenotypicFeature HP:0000155 biolink:PhenotypicFeature HP:0001019 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001973 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002783 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature HP:0003237 biolink:PhenotypicFeature HP:0003261 biolink:PhenotypicFeature HP:0005401 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0025526 biolink:PhenotypicFeature HP:0040187 biolink:PhenotypicFeature HP:0100827 biolink:PhenotypicFeature Orphanet:101096 biolink:Disease Aregenerative anemia HP:0000980 biolink:PhenotypicFeature HP:0001896 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0005561 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001575 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0005407 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0011117 biolink:PhenotypicFeature HP:0012133 biolink:PhenotypicFeature HP:0030197 biolink:PhenotypicFeature HP:0031393 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:79159 biolink:Disease Isobutyryl-CoA dehydrogenase deficiency HP:0003215 biolink:PhenotypicFeature HP:0003234 biolink:PhenotypicFeature HP:0045045 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0012734 biolink:PhenotypicFeature Orphanet:105 biolink:Disease Atresia of urethra HP:0000076 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000021 biolink:PhenotypicFeature HP:0000072 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0004321 biolink:PhenotypicFeature HP:0010479 biolink:PhenotypicFeature HP:0010955 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0010444 biolink:PhenotypicFeature Orphanet:237 biolink:Disease Duplication of urethra HP:0000039 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0012732 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000041 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0001153 biolink:PhenotypicFeature HP:0001543 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0003244 biolink:PhenotypicFeature HP:0003762 biolink:PhenotypicFeature HP:0008635 biolink:PhenotypicFeature HP:0008665 biolink:PhenotypicFeature HP:0008706 biolink:PhenotypicFeature HP:0008743 biolink:PhenotypicFeature HP:0010447 biolink:PhenotypicFeature HP:0012227 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0012583 biolink:PhenotypicFeature HP:0025407 biolink:PhenotypicFeature HP:0025489 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature HP:0100519 biolink:PhenotypicFeature Orphanet:725 biolink:Disease Continuous spikes and waves during sleep HP:0001250 biolink:PhenotypicFeature HP:0011182 biolink:PhenotypicFeature HP:0031491 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002349 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0006813 biolink:PhenotypicFeature HP:0007270 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0011153 biolink:PhenotypicFeature HP:0012010 biolink:PhenotypicFeature HP:0012557 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001345 biolink:PhenotypicFeature HP:0002266 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002333 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0011147 biolink:PhenotypicFeature HP:0011150 biolink:PhenotypicFeature HP:0012001 biolink:PhenotypicFeature Orphanet:26792 biolink:Disease Short chain acyl-CoA dehydrogenase deficiency HP:0001508 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0003219 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0045045 biolink:PhenotypicFeature HP:0410153 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0006929 biolink:PhenotypicFeature HP:0012734 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature Orphanet:35710 biolink:Disease Glucose-galactose malabsorption HP:0001508 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0003228 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0004395 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0030143 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature Orphanet:43116 biolink:Disease Serotonin syndrome HP:0002270 biolink:PhenotypicFeature HP:0000711 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0000570 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0011499 biolink:PhenotypicFeature HP:0032044 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature HP:0031258 biolink:PhenotypicFeature Orphanet:45452 biolink:Disease Idiopathic neonatal atrial flutter HP:0003115 biolink:PhenotypicFeature HP:0004755 biolink:PhenotypicFeature HP:0005150 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0004763 biolink:PhenotypicFeature HP:0005162 biolink:PhenotypicFeature HP:0012664 biolink:PhenotypicFeature HP:0025074 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0025116 biolink:PhenotypicFeature Orphanet:352 biolink:Disease Galactosemia HP:0012024 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0012537 biolink:PhenotypicFeature HP:0030272 biolink:PhenotypicFeature HP:0410061 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002345 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0030353 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature Orphanet:79237 biolink:Disease Galactokinase deficiency HP:0012024 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0410061 biolink:PhenotypicFeature HP:0410062 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0100018 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002361 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0004431 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012768 biolink:PhenotypicFeature Orphanet:79239 biolink:Disease Classic galactosemia HP:0000707 biolink:PhenotypicFeature HP:0003251 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0030272 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000868 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002345 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0006977 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0012537 biolink:PhenotypicFeature HP:0030353 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002311 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0011446 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0020110 biolink:PhenotypicFeature HP:0100512 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature Orphanet:370 biolink:Disease Glycogen storage disease due to phosphorylase kinase deficiency HP:0012379 biolink:PhenotypicFeature HP:0030272 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001946 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003162 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000858 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002913 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003323 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030232 biolink:PhenotypicFeature HP:0100607 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001947 biolink:PhenotypicFeature HP:0002040 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0003325 biolink:PhenotypicFeature HP:0005144 biolink:PhenotypicFeature HP:0006580 biolink:PhenotypicFeature HP:0012028 biolink:PhenotypicFeature Orphanet:65250 biolink:Disease Perineural cyst HP:0025643 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0003419 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0005107 biolink:PhenotypicFeature HP:0012514 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003698 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0011868 biolink:PhenotypicFeature HP:0012700 biolink:PhenotypicFeature HP:0030014 biolink:PhenotypicFeature HP:0030016 biolink:PhenotypicFeature HP:0030943 biolink:PhenotypicFeature HP:0031952 biolink:PhenotypicFeature HP:0040307 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0005765 biolink:PhenotypicFeature HP:0010835 biolink:PhenotypicFeature HP:0012877 biolink:PhenotypicFeature HP:0025238 biolink:PhenotypicFeature HP:0030834 biolink:PhenotypicFeature HP:0030838 biolink:PhenotypicFeature HP:0031520 biolink:PhenotypicFeature HP:0031826 biolink:PhenotypicFeature HP:0100711 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0500005 biolink:PhenotypicFeature Orphanet:47159 biolink:Disease Proximal renal tubular acidosis HP:0004910 biolink:PhenotypicFeature HP:0004918 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0003646 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000585 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001530 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0003076 biolink:PhenotypicFeature HP:0003109 biolink:PhenotypicFeature HP:0003126 biolink:PhenotypicFeature HP:0003149 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0006285 biolink:PhenotypicFeature HP:0011106 biolink:PhenotypicFeature HP:0012573 biolink:PhenotypicFeature HP:0012605 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0001682 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:51608 biolink:Disease Generalized arterial calcification of infancy HP:0003207 biolink:PhenotypicFeature HP:0004963 biolink:PhenotypicFeature HP:0006559 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001717 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002749 biolink:PhenotypicFeature HP:0004912 biolink:PhenotypicFeature HP:0004966 biolink:PhenotypicFeature HP:0010512 biolink:PhenotypicFeature HP:0010766 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012408 biolink:PhenotypicFeature HP:0012457 biolink:PhenotypicFeature HP:0025116 biolink:PhenotypicFeature HP:0025169 biolink:PhenotypicFeature HP:0025477 biolink:PhenotypicFeature HP:0000381 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000410 biolink:PhenotypicFeature HP:0000630 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001384 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001714 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002949 biolink:PhenotypicFeature HP:0003836 biolink:PhenotypicFeature HP:0003941 biolink:PhenotypicFeature HP:0005213 biolink:PhenotypicFeature HP:0009164 biolink:PhenotypicFeature HP:0010639 biolink:PhenotypicFeature HP:0012409 biolink:PhenotypicFeature HP:0032553 biolink:PhenotypicFeature HP:0200067 biolink:PhenotypicFeature HP:0000573 biolink:PhenotypicFeature HP:0001102 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002647 biolink:PhenotypicFeature HP:0003109 biolink:PhenotypicFeature HP:0005103 biolink:PhenotypicFeature HP:0006690 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011506 biolink:PhenotypicFeature HP:0040197 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature Orphanet:53035 biolink:Disease Caroli disease HP:0001396 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001406 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002908 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0030151 biolink:PhenotypicFeature HP:0030948 biolink:PhenotypicFeature HP:0000113 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002040 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0031964 biolink:PhenotypicFeature HP:0032106 biolink:PhenotypicFeature HP:0032545 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0002613 biolink:PhenotypicFeature HP:0030153 biolink:PhenotypicFeature HP:0100523 biolink:PhenotypicFeature HP:0001405 biolink:PhenotypicFeature HP:0045056 biolink:PhenotypicFeature Orphanet:60026 biolink:Disease Pulmonary nodular lymphoid hyperplasia HP:0002729 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025392 biolink:PhenotypicFeature HP:0030150 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0025179 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature Orphanet:18 biolink:Disease Distal renal tubular acidosis HP:0000121 biolink:PhenotypicFeature HP:0001996 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0004918 biolink:PhenotypicFeature HP:0012405 biolink:PhenotypicFeature HP:0032066 biolink:PhenotypicFeature HP:0000128 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0003109 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0012608 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000114 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0002748 biolink:PhenotypicFeature HP:0002749 biolink:PhenotypicFeature HP:0003126 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0011387 biolink:PhenotypicFeature HP:0011964 biolink:PhenotypicFeature HP:0012213 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature Orphanet:2088 biolink:Disease Fanconi-Bickel syndrome HP:0001508 biolink:PhenotypicFeature HP:0001947 biolink:PhenotypicFeature HP:0002148 biolink:PhenotypicFeature HP:0003109 biolink:PhenotypicFeature HP:0004919 biolink:PhenotypicFeature HP:0006568 biolink:PhenotypicFeature HP:0040270 biolink:PhenotypicFeature HP:0500030 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002748 biolink:PhenotypicFeature HP:0003076 biolink:PhenotypicFeature HP:0003162 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0011998 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002909 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0020110 biolink:PhenotypicFeature HP:0031956 biolink:PhenotypicFeature HP:0031964 biolink:PhenotypicFeature HP:0000295 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature Orphanet:135 biolink:Disease CACH syndrome HP:0006978 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0002344 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature HP:0007366 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000133 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001264 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0007361 biolink:PhenotypicFeature HP:0008288 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012690 biolink:PhenotypicFeature HP:0012704 biolink:PhenotypicFeature HP:0032398 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100653 biolink:PhenotypicFeature HP:0004481 biolink:PhenotypicFeature Orphanet:1018 biolink:Disease X-linked Alport syndrome-diffuse leiomyomatosis HP:0002015 biolink:PhenotypicFeature HP:0002031 biolink:PhenotypicFeature HP:0012718 biolink:PhenotypicFeature HP:0100751 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002571 biolink:PhenotypicFeature HP:0003262 biolink:PhenotypicFeature HP:0006756 biolink:PhenotypicFeature HP:0010460 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100771 biolink:PhenotypicFeature HP:0410281 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0006524 biolink:PhenotypicFeature HP:0010450 biolink:PhenotypicFeature HP:0010614 biolink:PhenotypicFeature HP:0010784 biolink:PhenotypicFeature HP:0011501 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0012252 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0030416 biolink:PhenotypicFeature HP:0032141 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0100650 biolink:PhenotypicFeature Orphanet:2260 biolink:Disease Oligomeganephronia HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0005563 biolink:PhenotypicFeature HP:0012213 biolink:PhenotypicFeature HP:0012575 biolink:PhenotypicFeature HP:0012584 biolink:PhenotypicFeature HP:0030162 biolink:PhenotypicFeature HP:0000092 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0011035 biolink:PhenotypicFeature HP:0025361 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000588 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001684 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0006518 biolink:PhenotypicFeature HP:0009796 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0040064 biolink:PhenotypicFeature Orphanet:157215 biolink:Disease Hereditary hypophosphatemic rickets with hypercalciuria HP:0002148 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0003109 biolink:PhenotypicFeature HP:0004912 biolink:PhenotypicFeature HP:0010639 biolink:PhenotypicFeature HP:0031415 biolink:PhenotypicFeature HP:0031425 biolink:PhenotypicFeature HP:0031428 biolink:PhenotypicFeature HP:0031817 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002749 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0012408 biolink:PhenotypicFeature HP:0000897 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002756 biolink:PhenotypicFeature HP:0002979 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature Orphanet:1183 biolink:Disease Opsoclonus-myoclonus syndrome HP:0000570 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0010543 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0003006 biolink:PhenotypicFeature HP:0045084 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0012226 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0030357 biolink:PhenotypicFeature HP:0031035 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature Orphanet:3337 biolink:Disease Primary Fanconi renotubular syndrome HP:0000117 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002049 biolink:PhenotypicFeature HP:0002909 biolink:PhenotypicFeature HP:0003076 biolink:PhenotypicFeature HP:0003126 biolink:PhenotypicFeature HP:0003149 biolink:PhenotypicFeature HP:0003646 biolink:PhenotypicFeature HP:0004910 biolink:PhenotypicFeature HP:0004918 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002148 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0002749 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0003081 biolink:PhenotypicFeature HP:0003234 biolink:PhenotypicFeature HP:0003537 biolink:PhenotypicFeature HP:0004912 biolink:PhenotypicFeature HP:0012606 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature Orphanet:3348 biolink:Disease Tracheobronchopathia osteochondroplastica HP:0002787 biolink:PhenotypicFeature HP:0031245 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002777 biolink:PhenotypicFeature HP:0002781 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0005607 biolink:PhenotypicFeature HP:0012387 biolink:PhenotypicFeature HP:0025426 biolink:PhenotypicFeature HP:0032016 biolink:PhenotypicFeature HP:0100593 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0010307 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0031352 biolink:PhenotypicFeature HP:0100633 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature Orphanet:1929 biolink:Disease Rasmussen subacute encephalitis HP:0004302 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002349 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0011153 biolink:PhenotypicFeature HP:0011193 biolink:PhenotypicFeature HP:0011195 biolink:PhenotypicFeature HP:0012157 biolink:PhenotypicFeature HP:0012847 biolink:PhenotypicFeature HP:0032665 biolink:PhenotypicFeature HP:0100308 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002921 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007334 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0011163 biolink:PhenotypicFeature HP:0011182 biolink:PhenotypicFeature HP:0011185 biolink:PhenotypicFeature HP:0012708 biolink:PhenotypicFeature HP:0020151 biolink:PhenotypicFeature HP:0025190 biolink:PhenotypicFeature HP:0031491 biolink:PhenotypicFeature HP:0031535 biolink:PhenotypicFeature HP:0032005 biolink:PhenotypicFeature HP:0032046 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature HP:0003460 biolink:PhenotypicFeature HP:0011097 biolink:PhenotypicFeature HP:0032661 biolink:PhenotypicFeature Orphanet:73 biolink:Disease Gorham-Stout disease HP:0002797 biolink:PhenotypicFeature HP:0010639 biolink:PhenotypicFeature HP:0010657 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002683 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0005731 biolink:PhenotypicFeature HP:0009139 biolink:PhenotypicFeature HP:0010754 biolink:PhenotypicFeature HP:0011384 biolink:PhenotypicFeature HP:0011821 biolink:PhenotypicFeature HP:0011849 biolink:PhenotypicFeature HP:0012294 biolink:PhenotypicFeature HP:0031417 biolink:PhenotypicFeature HP:0045039 biolink:PhenotypicFeature HP:0100764 biolink:PhenotypicFeature HP:0200025 biolink:PhenotypicFeature HP:0000265 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002756 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0007099 biolink:PhenotypicFeature HP:0007461 biolink:PhenotypicFeature HP:0045027 biolink:PhenotypicFeature HP:0430005 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0002176 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0040163 biolink:PhenotypicFeature Orphanet:3008 biolink:Disease Pyruvate carboxylase deficiency HP:0002151 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0032653 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002161 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0003348 biolink:PhenotypicFeature HP:0003542 biolink:PhenotypicFeature HP:0003648 biolink:PhenotypicFeature HP:0008358 biolink:PhenotypicFeature HP:0011966 biolink:PhenotypicFeature HP:0012644 biolink:PhenotypicFeature HP:0012706 biolink:PhenotypicFeature HP:0012707 biolink:PhenotypicFeature HP:0012708 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0410068 biolink:PhenotypicFeature HP:0410175 biolink:PhenotypicFeature HP:0500147 biolink:PhenotypicFeature HP:0500181 biolink:PhenotypicFeature HP:0500198 biolink:PhenotypicFeature HP:0500200 biolink:PhenotypicFeature HP:0500231 biolink:PhenotypicFeature HP:0500233 biolink:PhenotypicFeature HP:0500246 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0000817 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002416 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0003074 biolink:PhenotypicFeature HP:0003228 biolink:PhenotypicFeature HP:0003265 biolink:PhenotypicFeature HP:0003429 biolink:PhenotypicFeature HP:0006999 biolink:PhenotypicFeature HP:0007109 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0011169 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0012698 biolink:PhenotypicFeature HP:0012762 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0025336 biolink:PhenotypicFeature HP:0030051 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0100023 biolink:PhenotypicFeature Orphanet:99 biolink:Disease Autosomal dominant cerebellar ataxia HP:0001308 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002304 biolink:PhenotypicFeature HP:0002310 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002345 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0002461 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0007024 biolink:PhenotypicFeature HP:0007067 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007338 biolink:PhenotypicFeature HP:0007817 biolink:PhenotypicFeature HP:0010526 biolink:PhenotypicFeature HP:0010530 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature HP:0011168 biolink:PhenotypicFeature HP:0012049 biolink:PhenotypicFeature HP:0012473 biolink:PhenotypicFeature HP:0000027 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002073 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001271 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0002385 biolink:PhenotypicFeature HP:0002423 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0003390 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007305 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000514 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000546 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0000608 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature Orphanet:2442 biolink:Disease X-linked lymphoproliferative disease HP:0001945 biolink:PhenotypicFeature HP:0002961 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004315 biolink:PhenotypicFeature HP:0012156 biolink:PhenotypicFeature HP:0012191 biolink:PhenotypicFeature HP:0025289 biolink:PhenotypicFeature HP:0030812 biolink:PhenotypicFeature HP:0031693 biolink:PhenotypicFeature HP:0100727 biolink:PhenotypicFeature HP:0100827 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0002037 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002720 biolink:PhenotypicFeature HP:0002850 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003256 biolink:PhenotypicFeature HP:0003261 biolink:PhenotypicFeature HP:0003281 biolink:PhenotypicFeature HP:0003496 biolink:PhenotypicFeature HP:0005403 biolink:PhenotypicFeature HP:0005404 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0010976 biolink:PhenotypicFeature HP:0011900 biolink:PhenotypicFeature HP:0031408 biolink:PhenotypicFeature HP:0040218 biolink:PhenotypicFeature HP:0040219 biolink:PhenotypicFeature HP:0100828 biolink:PhenotypicFeature HP:0000123 biolink:PhenotypicFeature HP:0001915 biolink:PhenotypicFeature HP:0002583 biolink:PhenotypicFeature HP:0002605 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002955 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0004787 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0030080 biolink:PhenotypicFeature HP:0030250 biolink:PhenotypicFeature Orphanet:465 biolink:Disease Congenital plasminogen activator inhibitor type 1 deficiency HP:0011854 biolink:PhenotypicFeature HP:0012233 biolink:PhenotypicFeature HP:0100310 biolink:PhenotypicFeature HP:0007420 biolink:PhenotypicFeature HP:0001934 biolink:PhenotypicFeature HP:0004846 biolink:PhenotypicFeature HP:0040228 biolink:PhenotypicFeature HP:0040230 biolink:PhenotypicFeature HP:0040245 biolink:PhenotypicFeature HP:0040248 biolink:PhenotypicFeature HP:0040249 biolink:PhenotypicFeature HP:0000132 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001933 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0006298 biolink:PhenotypicFeature HP:0011891 biolink:PhenotypicFeature HP:0030657 biolink:PhenotypicFeature HP:0040184 biolink:PhenotypicFeature HP:0001058 biolink:PhenotypicFeature HP:0001685 biolink:PhenotypicFeature HP:0005261 biolink:PhenotypicFeature Orphanet:79433 biolink:Disease Oculocutaneous albinism type 3 HP:0000635 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001480 biolink:PhenotypicFeature HP:0002297 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0011358 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0002226 biolink:PhenotypicFeature HP:0002227 biolink:PhenotypicFeature HP:0025551 biolink:PhenotypicFeature HP:0100814 biolink:PhenotypicFeature HP:0200098 biolink:PhenotypicFeature Orphanet:2302 biolink:Disease Asbestos intoxication HP:0002086 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002207 biolink:PhenotypicFeature HP:0002792 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0030874 biolink:PhenotypicFeature HP:0031246 biolink:PhenotypicFeature HP:0031631 biolink:PhenotypicFeature HP:0031944 biolink:PhenotypicFeature HP:0031998 biolink:PhenotypicFeature HP:0032341 biolink:PhenotypicFeature HP:0045051 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001648 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0025179 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0030849 biolink:PhenotypicFeature HP:0030879 biolink:PhenotypicFeature HP:0031352 biolink:PhenotypicFeature HP:0032016 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100759 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001685 biolink:PhenotypicFeature HP:0030078 biolink:PhenotypicFeature HP:0100001 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature Orphanet:1708 biolink:Disease Mosaic trisomy 16 HP:0001511 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0100602 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001195 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0004484 biolink:PhenotypicFeature HP:0006267 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000366 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001545 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0002245 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0005587 biolink:PhenotypicFeature HP:0005773 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0011640 biolink:PhenotypicFeature HP:0012372 biolink:PhenotypicFeature HP:0031703 biolink:PhenotypicFeature HP:0100864 biolink:PhenotypicFeature Orphanet:801 biolink:Disease Scleroderma HP:0001072 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0031359 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0011838 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0025131 biolink:PhenotypicFeature HP:0030859 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002244 biolink:PhenotypicFeature HP:0002250 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002577 biolink:PhenotypicFeature HP:0002584 biolink:PhenotypicFeature HP:0002604 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0005590 biolink:PhenotypicFeature HP:0006121 biolink:PhenotypicFeature HP:0006261 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0009771 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0011799 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0025520 biolink:PhenotypicFeature HP:0030873 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0031293 biolink:PhenotypicFeature HP:0031329 biolink:PhenotypicFeature HP:0100534 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100580 biolink:PhenotypicFeature HP:0100661 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002176 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0012185 biolink:PhenotypicFeature HP:0012486 biolink:PhenotypicFeature HP:0025533 biolink:PhenotypicFeature HP:0032018 biolink:PhenotypicFeature HP:0032061 biolink:PhenotypicFeature HP:0045054 biolink:PhenotypicFeature HP:0100537 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature Orphanet:3467 biolink:Disease Hereditary xanthinuria HP:0003537 biolink:PhenotypicFeature HP:0011935 biolink:PhenotypicFeature HP:0000791 biolink:PhenotypicFeature HP:0000804 biolink:PhenotypicFeature HP:0002932 biolink:PhenotypicFeature HP:0003534 biolink:PhenotypicFeature HP:0003643 biolink:PhenotypicFeature HP:0010933 biolink:PhenotypicFeature HP:0010934 biolink:PhenotypicFeature HP:0011814 biolink:PhenotypicFeature HP:0020074 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001370 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0003040 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0012432 biolink:PhenotypicFeature HP:0030157 biolink:PhenotypicFeature HP:0001997 biolink:PhenotypicFeature Orphanet:2369 biolink:Disease Limb body wall complex HP:0010866 biolink:PhenotypicFeature HP:0011418 biolink:PhenotypicFeature HP:0040064 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0001196 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001683 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0005257 biolink:PhenotypicFeature HP:0006711 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0001132 biolink:PhenotypicFeature HP:0001195 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001540 biolink:PhenotypicFeature HP:0001776 biolink:PhenotypicFeature HP:0001839 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002143 biolink:PhenotypicFeature HP:0002242 biolink:PhenotypicFeature HP:0002323 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0002933 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0004275 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006368 biolink:PhenotypicFeature HP:0006496 biolink:PhenotypicFeature HP:0007385 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008458 biolink:PhenotypicFeature HP:0009775 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0010242 biolink:PhenotypicFeature HP:0010541 biolink:PhenotypicFeature HP:0010554 biolink:PhenotypicFeature HP:0100656 biolink:PhenotypicFeature HP:0410030 biolink:PhenotypicFeature Orphanet:2524 biolink:Disease Pontocerebellar hypoplasia type 2 HP:0001250 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0006850 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0031162 biolink:PhenotypicFeature HP:0000253 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002268 biolink:PhenotypicFeature HP:0002365 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0200136 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002536 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0003558 biolink:PhenotypicFeature HP:0006895 biolink:PhenotypicFeature HP:0006989 biolink:PhenotypicFeature HP:0007598 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0011171 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0012765 biolink:PhenotypicFeature HP:0025190 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0200049 biolink:PhenotypicFeature HP:0002350 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature Orphanet:90289 biolink:Disease Localized scleroderma HP:0001072 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0011355 biolink:PhenotypicFeature HP:0030053 biolink:PhenotypicFeature HP:0031359 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000177 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002232 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0004426 biolink:PhenotypicFeature HP:0006336 biolink:PhenotypicFeature HP:0009019 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011331 biolink:PhenotypicFeature HP:0011821 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0100537 biolink:PhenotypicFeature HP:0100560 biolink:PhenotypicFeature HP:0100876 biolink:PhenotypicFeature HP:0100899 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000366 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003330 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0011138 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0030878 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0100633 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature Orphanet:1445 biolink:Disease Ring chromosome 21 syndrome HP:0001999 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature HP:0000027 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004283 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0008467 biolink:PhenotypicFeature HP:0011171 biolink:PhenotypicFeature HP:0025190 biolink:PhenotypicFeature HP:0030039 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:2843 biolink:Disease Pentosuria HP:0011021 biolink:PhenotypicFeature HP:0031979 biolink:PhenotypicFeature HP:0011013 biolink:PhenotypicFeature Orphanet:1578 biolink:Disease Pterin-4 alpha-carbinolamine dehydratase deficiency HP:0004923 biolink:PhenotypicFeature HP:0040210 biolink:PhenotypicFeature HP:0010553 biolink:PhenotypicFeature HP:0040206 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002917 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0004904 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature Orphanet:1724 biolink:Disease Mosaic trisomy 20 HP:0008947 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0002143 biolink:PhenotypicFeature HP:0007483 biolink:PhenotypicFeature HP:0007535 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0200021 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000472 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002948 biolink:PhenotypicFeature HP:0002949 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004484 biolink:PhenotypicFeature HP:0006394 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0011398 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0030732 biolink:PhenotypicFeature HP:0410030 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:3243 biolink:Disease Sweet syndrome HP:0012531 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0030350 biolink:PhenotypicFeature HP:0030782 biolink:PhenotypicFeature HP:0031236 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000464 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0011118 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0011897 biolink:PhenotypicFeature HP:0011944 biolink:PhenotypicFeature HP:0025616 biolink:PhenotypicFeature HP:0030783 biolink:PhenotypicFeature HP:0032324 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002037 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0004377 biolink:PhenotypicFeature HP:0004808 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0012490 biolink:PhenotypicFeature HP:0020169 biolink:PhenotypicFeature HP:0025452 biolink:PhenotypicFeature HP:0040154 biolink:PhenotypicFeature HP:0040313 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0005550 biolink:PhenotypicFeature Orphanet:89936 biolink:Disease X-linked hypophosphatemia HP:0000117 biolink:PhenotypicFeature HP:0002148 biolink:PhenotypicFeature HP:0002748 biolink:PhenotypicFeature HP:0003127 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0006490 biolink:PhenotypicFeature HP:0000694 biolink:PhenotypicFeature HP:0000897 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0002979 biolink:PhenotypicFeature HP:0003498 biolink:PhenotypicFeature HP:0003856 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0008117 biolink:PhenotypicFeature HP:0008144 biolink:PhenotypicFeature HP:0010299 biolink:PhenotypicFeature HP:0025335 biolink:PhenotypicFeature HP:0030757 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0000920 biolink:PhenotypicFeature HP:0000923 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002869 biolink:PhenotypicFeature HP:0006432 biolink:PhenotypicFeature HP:0008442 biolink:PhenotypicFeature HP:0012449 biolink:PhenotypicFeature HP:0025369 biolink:PhenotypicFeature HP:0100686 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0005789 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature Orphanet:3269 biolink:Disease Congenital radioulnar synostosis HP:0002974 biolink:PhenotypicFeature HP:0002996 biolink:PhenotypicFeature HP:0006394 biolink:PhenotypicFeature HP:0040071 biolink:PhenotypicFeature HP:0045009 biolink:PhenotypicFeature HP:0001457 biolink:PhenotypicFeature HP:0003083 biolink:PhenotypicFeature HP:0030834 biolink:PhenotypicFeature HP:0030836 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature Orphanet:90291 biolink:Disease Systemic sclerosis HP:0001072 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0031359 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0001009 biolink:PhenotypicFeature HP:0001232 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0002031 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0005590 biolink:PhenotypicFeature HP:0006121 biolink:PhenotypicFeature HP:0006261 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0011838 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0025131 biolink:PhenotypicFeature HP:0025520 biolink:PhenotypicFeature HP:0030859 biolink:PhenotypicFeature HP:0030873 biolink:PhenotypicFeature HP:0031293 biolink:PhenotypicFeature HP:0031917 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000099 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002244 biolink:PhenotypicFeature HP:0002250 biolink:PhenotypicFeature HP:0002577 biolink:PhenotypicFeature HP:0002578 biolink:PhenotypicFeature HP:0002584 biolink:PhenotypicFeature HP:0002604 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0009771 biolink:PhenotypicFeature HP:0011799 biolink:PhenotypicFeature HP:0012185 biolink:PhenotypicFeature HP:0012592 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0031329 biolink:PhenotypicFeature HP:0100580 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature Orphanet:437 biolink:Disease Hypophosphatemic rickets HP:0002148 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002748 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002749 biolink:PhenotypicFeature HP:0003109 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0003498 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0040069 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000117 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000694 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0003127 biolink:PhenotypicFeature HP:0004963 biolink:PhenotypicFeature HP:0010766 biolink:PhenotypicFeature HP:0012052 biolink:PhenotypicFeature HP:0020110 biolink:PhenotypicFeature HP:0030757 biolink:PhenotypicFeature HP:0030758 biolink:PhenotypicFeature HP:0100512 biolink:PhenotypicFeature HP:0100686 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000836 biolink:PhenotypicFeature HP:0000843 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0003165 biolink:PhenotypicFeature HP:0004484 biolink:PhenotypicFeature HP:0005464 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0008208 biolink:PhenotypicFeature HP:0010659 biolink:PhenotypicFeature HP:0010734 biolink:PhenotypicFeature HP:0100774 biolink:PhenotypicFeature Orphanet:576283 biolink:Disease SATB2-associated syndrome due to a pathogenic variant HP:0000164 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0040082 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002608 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0011147 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0100886 biolink:PhenotypicFeature Orphanet:251028 biolink:Disease SATB2-associated syndrome due to a chromosomal rearrangement HP:0000343 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001776 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000201 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000620 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000711 biolink:PhenotypicFeature HP:0000742 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001238 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001575 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0002761 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0002982 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0006349 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0011339 biolink:PhenotypicFeature HP:0012428 biolink:PhenotypicFeature HP:0020045 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature Orphanet:177910 biolink:Disease Prader-Willi syndrome due to imprinting mutation HP:0000708 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0004039 biolink:PhenotypicFeature HP:0004283 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature Orphanet:177907 biolink:Disease Prader-Willi syndrome due to translocation HP:0001513 biolink:PhenotypicFeature HP:0001612 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006829 biolink:PhenotypicFeature HP:0007874 biolink:PhenotypicFeature HP:0010627 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001776 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0006347 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0009085 biolink:PhenotypicFeature HP:0010801 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0012166 biolink:PhenotypicFeature HP:0012168 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0012704 biolink:PhenotypicFeature HP:0012775 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0040025 biolink:PhenotypicFeature HP:0040082 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0200096 biolink:PhenotypicFeature Orphanet:231137 biolink:Disease Silver-Russell syndrome due to 7p11.2p13 microduplication HP:0000219 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0000066 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000460 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001212 biolink:PhenotypicFeature HP:0001786 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009890 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature Orphanet:397590 biolink:Disease Silver-Russell syndrome due to a point mutation HP:0000325 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0000045 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0009237 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001804 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0006266 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature HP:0030260 biolink:PhenotypicFeature HP:0100257 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature HP:0100607 biolink:PhenotypicFeature Orphanet:231147 biolink:Disease Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 HP:0000325 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0030884 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature Orphanet:96182 biolink:Disease Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 HP:0000233 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003162 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000201 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001476 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002835 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0003944 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0008846 biolink:PhenotypicFeature HP:0010782 biolink:PhenotypicFeature HP:0011094 biolink:PhenotypicFeature HP:0012412 biolink:PhenotypicFeature HP:0012523 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0100633 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature Orphanet:284 biolink:Disease Alveolar echinococcosis HP:0001407 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0003419 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0025406 biolink:PhenotypicFeature HP:0410019 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000766 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0010766 biolink:PhenotypicFeature HP:0011732 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025408 biolink:PhenotypicFeature HP:0030151 biolink:PhenotypicFeature HP:0031292 biolink:PhenotypicFeature HP:0032445 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0000775 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001697 biolink:PhenotypicFeature HP:0001737 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002613 biolink:PhenotypicFeature HP:0002639 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0010576 biolink:PhenotypicFeature HP:0011805 biolink:PhenotypicFeature HP:0012062 biolink:PhenotypicFeature HP:0025487 biolink:PhenotypicFeature HP:0040163 biolink:PhenotypicFeature HP:0100016 biolink:PhenotypicFeature HP:0100523 biolink:PhenotypicFeature Orphanet:3392 biolink:Disease Tularemia HP:0001649 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0025406 biolink:PhenotypicFeature HP:0000155 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0011355 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025289 biolink:PhenotypicFeature HP:0025439 biolink:PhenotypicFeature HP:0030833 biolink:PhenotypicFeature HP:0031983 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0012219 biolink:PhenotypicFeature HP:0030049 biolink:PhenotypicFeature HP:0030953 biolink:PhenotypicFeature HP:0031292 biolink:PhenotypicFeature HP:0100533 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature HP:3000033 biolink:PhenotypicFeature Orphanet:231144 biolink:Disease Silver-Russell syndrome due to 11p15 microduplication HP:0000325 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0008846 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:231140 biolink:Disease Silver-Russell syndrome due to an imprinting defect of 11p15 HP:0000325 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0100560 biolink:PhenotypicFeature HP:0000811 biolink:PhenotypicFeature HP:0001052 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001540 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001998 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001476 biolink:PhenotypicFeature Orphanet:535 biolink:Disease Rare cutaneous lupus erythematosus HP:0002715 biolink:PhenotypicFeature HP:0005339 biolink:PhenotypicFeature HP:0011121 biolink:PhenotypicFeature HP:0025300 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0007417 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011830 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0025475 biolink:PhenotypicFeature HP:0025526 biolink:PhenotypicFeature HP:0025528 biolink:PhenotypicFeature HP:0040186 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100803 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature HP:0000155 biolink:PhenotypicFeature HP:0000234 biolink:PhenotypicFeature HP:0000282 biolink:PhenotypicFeature HP:0000363 biolink:PhenotypicFeature HP:0000464 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0001217 biolink:PhenotypicFeature HP:0001232 biolink:PhenotypicFeature HP:0001438 biolink:PhenotypicFeature HP:0001454 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001806 biolink:PhenotypicFeature HP:0001820 biolink:PhenotypicFeature HP:0001965 biolink:PhenotypicFeature HP:0002165 biolink:PhenotypicFeature HP:0002293 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0003043 biolink:PhenotypicFeature HP:0004552 biolink:PhenotypicFeature HP:0007432 biolink:PhenotypicFeature HP:0007473 biolink:PhenotypicFeature HP:0007502 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0009123 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0011276 biolink:PhenotypicFeature HP:0011911 biolink:PhenotypicFeature HP:0012490 biolink:PhenotypicFeature HP:0012500 biolink:PhenotypicFeature HP:0030254 biolink:PhenotypicFeature HP:0031093 biolink:PhenotypicFeature HP:0031190 biolink:PhenotypicFeature HP:0031191 biolink:PhenotypicFeature HP:0031234 biolink:PhenotypicFeature HP:0031293 biolink:PhenotypicFeature HP:0032156 biolink:PhenotypicFeature HP:0032217 biolink:PhenotypicFeature HP:0100539 biolink:PhenotypicFeature HP:0100825 biolink:PhenotypicFeature HP:0100871 biolink:PhenotypicFeature HP:0100872 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature Orphanet:308552 biolink:Disease Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0001324 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010471 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0025335 biolink:PhenotypicFeature HP:0025336 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0031964 biolink:PhenotypicFeature HP:0032092 biolink:PhenotypicFeature HP:0040329 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000183 biolink:PhenotypicFeature HP:0000297 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0005165 biolink:PhenotypicFeature HP:0009805 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:365 biolink:Disease Glycogen storage disease due to acid maltase deficiency HP:0001324 biolink:PhenotypicFeature HP:0009073 biolink:PhenotypicFeature HP:0010471 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003391 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0030231 biolink:PhenotypicFeature HP:0031964 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000183 biolink:PhenotypicFeature HP:0000297 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0004944 biolink:PhenotypicFeature HP:0005165 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0009113 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0012532 biolink:PhenotypicFeature HP:0012727 biolink:PhenotypicFeature HP:0012764 biolink:PhenotypicFeature HP:0030195 biolink:PhenotypicFeature HP:0030196 biolink:PhenotypicFeature HP:0031310 biolink:PhenotypicFeature HP:0032092 biolink:PhenotypicFeature HP:3000062 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0007002 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature Orphanet:1560 biolink:Disease Cysticercosis HP:0000707 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0010576 biolink:PhenotypicFeature HP:0010651 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0011805 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0012703 biolink:PhenotypicFeature HP:0100702 biolink:PhenotypicFeature HP:0200149 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0000933 biolink:PhenotypicFeature HP:0001637 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0009745 biolink:PhenotypicFeature HP:0012372 biolink:PhenotypicFeature HP:0025258 biolink:PhenotypicFeature HP:0100249 biolink:PhenotypicFeature HP:0100561 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0001094 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0012424 biolink:PhenotypicFeature HP:0025163 biolink:PhenotypicFeature Orphanet:99939 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2E HP:0001288 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007220 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0011402 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001884 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0012896 biolink:PhenotypicFeature HP:0030235 biolink:PhenotypicFeature HP:0200101 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature Orphanet:99950 biolink:Disease Charcot-Marie-Tooth disease type 4D HP:0003431 biolink:PhenotypicFeature HP:0007078 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0007210 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001765 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0008959 biolink:PhenotypicFeature HP:0009129 biolink:PhenotypicFeature HP:0032649 biolink:PhenotypicFeature Orphanet:158668 biolink:Disease Ectodermal dysplasia-skin fragility syndrome HP:0000982 biolink:PhenotypicFeature HP:0001030 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002289 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0040181 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005218 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0007502 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0012227 biolink:PhenotypicFeature HP:0030809 biolink:PhenotypicFeature HP:0100699 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0100825 biolink:PhenotypicFeature Orphanet:79399 biolink:Disease Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form HP:0000962 biolink:PhenotypicFeature HP:0003341 biolink:PhenotypicFeature HP:0007585 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0005585 biolink:PhenotypicFeature HP:0005590 biolink:PhenotypicFeature HP:0007556 biolink:PhenotypicFeature HP:0010765 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0009123 biolink:PhenotypicFeature HP:0009719 biolink:PhenotypicFeature HP:0200097 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:101085 biolink:Disease Charcot-Marie-Tooth disease type 1F HP:0000762 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007220 biolink:PhenotypicFeature HP:0011402 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002346 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0002403 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0003387 biolink:PhenotypicFeature HP:0004463 biolink:PhenotypicFeature HP:0007149 biolink:PhenotypicFeature HP:0007327 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0009130 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature HP:0010873 biolink:PhenotypicFeature HP:0030237 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0008956 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0012452 biolink:PhenotypicFeature HP:0012473 biolink:PhenotypicFeature HP:0012785 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature Orphanet:137667 biolink:Disease Capillary malformation-arteriovenous malformation HP:0025104 biolink:PhenotypicFeature HP:0011276 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001009 biolink:PhenotypicFeature HP:0001722 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002408 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0004947 biolink:PhenotypicFeature HP:0009127 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0030713 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature HP:0100763 biolink:PhenotypicFeature HP:0100784 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000996 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001790 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0010310 biolink:PhenotypicFeature HP:0020073 biolink:PhenotypicFeature Orphanet:99642 biolink:Disease Spondyloepimetaphyseal dysplasia, Handigodu type HP:0003365 biolink:PhenotypicFeature HP:0008800 biolink:PhenotypicFeature HP:0008843 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0003179 biolink:PhenotypicFeature HP:0003273 biolink:PhenotypicFeature HP:0003521 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004594 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0010575 biolink:PhenotypicFeature HP:0030043 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004026 biolink:PhenotypicFeature HP:0005108 biolink:PhenotypicFeature HP:0006387 biolink:PhenotypicFeature HP:0006429 biolink:PhenotypicFeature HP:0008812 biolink:PhenotypicFeature HP:0030839 biolink:PhenotypicFeature HP:0100864 biolink:PhenotypicFeature Orphanet:99802 biolink:Disease Hemimegalencephaly HP:0001250 biolink:PhenotypicFeature HP:0025373 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0000267 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002392 biolink:PhenotypicFeature HP:0007206 biolink:PhenotypicFeature HP:0010851 biolink:PhenotypicFeature HP:0011153 biolink:PhenotypicFeature HP:0011193 biolink:PhenotypicFeature HP:0011195 biolink:PhenotypicFeature HP:0011215 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature HP:0032046 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002171 biolink:PhenotypicFeature HP:0002282 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011097 biolink:PhenotypicFeature HP:0011167 biolink:PhenotypicFeature HP:0012246 biolink:PhenotypicFeature HP:0012377 biolink:PhenotypicFeature HP:0012757 biolink:PhenotypicFeature Orphanet:199241 biolink:Disease Pulmonary capillary hemangiomatosis HP:0002716 biolink:PhenotypicFeature HP:0005954 biolink:PhenotypicFeature HP:0025104 biolink:PhenotypicFeature HP:0025179 biolink:PhenotypicFeature HP:0030879 biolink:PhenotypicFeature HP:0045051 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0004890 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0012151 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0025180 biolink:PhenotypicFeature HP:0025420 biolink:PhenotypicFeature HP:0030968 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature HP:0100759 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0100598 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0032230 biolink:PhenotypicFeature Orphanet:206569 biolink:Disease Immune-mediated necrotizing myopathy HP:0030200 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0003327 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003713 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature Orphanet:210272 biolink:Disease Mal de débarquement HP:0002141 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030826 biolink:PhenotypicFeature HP:0001751 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature Orphanet:89838 biolink:Disease Autosomal recessive generalized epidermolysis bullosa simplex HP:0000962 biolink:PhenotypicFeature HP:0000972 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0007446 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0200097 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001802 biolink:PhenotypicFeature HP:0001807 biolink:PhenotypicFeature HP:0001810 biolink:PhenotypicFeature HP:0003764 biolink:PhenotypicFeature HP:0007589 biolink:PhenotypicFeature HP:0031464 biolink:PhenotypicFeature Orphanet:101046 biolink:Disease Autosomal dominant epilepsy with auditory features HP:0007359 biolink:PhenotypicFeature HP:0008765 biolink:PhenotypicFeature HP:0011185 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0011182 biolink:PhenotypicFeature HP:0002349 biolink:PhenotypicFeature HP:0002367 biolink:PhenotypicFeature HP:0011154 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0031951 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0007334 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature Orphanet:141091 biolink:Disease Polyrrhinia HP:0009934 biolink:PhenotypicFeature HP:0010938 biolink:PhenotypicFeature HP:0010939 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0002056 biolink:PhenotypicFeature HP:0002693 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0010951 biolink:PhenotypicFeature Orphanet:167635 biolink:Disease Scleromyxedema HP:0011354 biolink:PhenotypicFeature HP:0031047 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000464 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002056 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002973 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0011838 biolink:PhenotypicFeature HP:0025512 biolink:PhenotypicFeature HP:0030053 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0008509 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0011805 biolink:PhenotypicFeature HP:0030178 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0100771 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0006704 biolink:PhenotypicFeature HP:0006775 biolink:PhenotypicFeature HP:0030966 biolink:PhenotypicFeature HP:0002926 biolink:PhenotypicFeature Orphanet:171929 biolink:Disease Trisomy 10p HP:0001249 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000159 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000366 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000598 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000143 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001384 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002266 biolink:PhenotypicFeature HP:0002275 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0006055 biolink:PhenotypicFeature HP:0006958 biolink:PhenotypicFeature HP:0009600 biolink:PhenotypicFeature HP:0009879 biolink:PhenotypicFeature HP:0010537 biolink:PhenotypicFeature HP:0010851 biolink:PhenotypicFeature HP:0011181 biolink:PhenotypicFeature HP:0011193 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0011467 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0012794 biolink:PhenotypicFeature Orphanet:94088 biolink:Disease Hereditary renal hypouricemia HP:0003149 biolink:PhenotypicFeature HP:0003537 biolink:PhenotypicFeature HP:0030973 biolink:PhenotypicFeature HP:0000091 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0008651 biolink:PhenotypicFeature HP:0012211 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0003138 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0012213 biolink:PhenotypicFeature HP:0012595 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature Orphanet:93101 biolink:Disease Renal hypoplasia HP:0000083 biolink:PhenotypicFeature HP:0000091 biolink:PhenotypicFeature HP:0005563 biolink:PhenotypicFeature HP:0011035 biolink:PhenotypicFeature HP:0012210 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0030162 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000069 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000125 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0010481 biolink:PhenotypicFeature Orphanet:97360 biolink:Disease Robinow syndrome HP:0003027 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0003086 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0005011 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000059 biolink:PhenotypicFeature HP:0000060 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000187 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000207 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000454 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000692 biolink:PhenotypicFeature HP:0000902 biolink:PhenotypicFeature HP:0000921 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006439 biolink:PhenotypicFeature HP:0009611 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0009890 biolink:PhenotypicFeature HP:0010296 biolink:PhenotypicFeature HP:0010297 biolink:PhenotypicFeature HP:0010882 biolink:PhenotypicFeature HP:0011662 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0030039 biolink:PhenotypicFeature HP:0030264 biolink:PhenotypicFeature HP:0000003 biolink:PhenotypicFeature HP:0000410 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0006291 biolink:PhenotypicFeature HP:0006335 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0040171 biolink:PhenotypicFeature Orphanet:95706 biolink:Disease Non-syndromic posterior hypospadias HP:0100627 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0012435 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002032 biolink:PhenotypicFeature HP:0008226 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0008722 biolink:PhenotypicFeature Orphanet:314652 biolink:Disease Variant ABeta2M amyloidosis HP:0001917 biolink:PhenotypicFeature HP:0012185 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0000157 biolink:PhenotypicFeature HP:0002176 biolink:PhenotypicFeature HP:0002756 biolink:PhenotypicFeature HP:0003365 biolink:PhenotypicFeature HP:0005244 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0010286 biolink:PhenotypicFeature HP:0011805 biolink:PhenotypicFeature HP:0011915 biolink:PhenotypicFeature HP:0012065 biolink:PhenotypicFeature HP:0012280 biolink:PhenotypicFeature HP:0012309 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0012664 biolink:PhenotypicFeature HP:0025015 biolink:PhenotypicFeature HP:0030834 biolink:PhenotypicFeature HP:0030836 biolink:PhenotypicFeature HP:0030839 biolink:PhenotypicFeature HP:0030843 biolink:PhenotypicFeature HP:0031368 biolink:PhenotypicFeature HP:0100292 biolink:PhenotypicFeature Orphanet:99734 biolink:Disease Myotonia fluctuans HP:0003552 biolink:PhenotypicFeature HP:0100284 biolink:PhenotypicFeature HP:0002491 biolink:PhenotypicFeature HP:0008967 biolink:PhenotypicFeature HP:0012902 biolink:PhenotypicFeature HP:0012903 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012899 biolink:PhenotypicFeature HP:0012900 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0003740 biolink:PhenotypicFeature HP:0010307 biolink:PhenotypicFeature HP:0025425 biolink:PhenotypicFeature HP:0030842 biolink:PhenotypicFeature HP:0012904 biolink:PhenotypicFeature Orphanet:92050 biolink:Disease Congenital tufting enteropathy HP:0001508 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0011473 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002570 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0005208 biolink:PhenotypicFeature HP:0025129 biolink:PhenotypicFeature HP:0032486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0025090 biolink:PhenotypicFeature HP:0200020 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000588 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002611 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0011859 biolink:PhenotypicFeature Orphanet:93126 biolink:Disease Pauci-immune glomerulonephritis HP:0000099 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0002907 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0011944 biolink:PhenotypicFeature HP:0012213 biolink:PhenotypicFeature HP:0032230 biolink:PhenotypicFeature HP:0000096 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0008653 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002087 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0004930 biolink:PhenotypicFeature HP:0012089 biolink:PhenotypicFeature HP:0012587 biolink:PhenotypicFeature HP:0012593 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0040223 biolink:PhenotypicFeature HP:0000155 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0032018 biolink:PhenotypicFeature HP:0100532 biolink:PhenotypicFeature HP:0002955 biolink:PhenotypicFeature HP:0032616 biolink:PhenotypicFeature Orphanet:3115 biolink:Disease Roussy-Lévy syndrome HP:0000639 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002174 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0003431 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0007131 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0008954 biolink:PhenotypicFeature Orphanet:435387 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2Y HP:0000762 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003438 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0008959 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0009130 biolink:PhenotypicFeature HP:0010830 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001575 biolink:PhenotypicFeature HP:0001765 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0003691 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0003731 biolink:PhenotypicFeature HP:0006389 biolink:PhenotypicFeature HP:0006886 biolink:PhenotypicFeature HP:0006944 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature Orphanet:99050 biolink:Disease Abnormal origin of right or left pulmonary artery from the aorta HP:0005143 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0012382 biolink:PhenotypicFeature HP:0032092 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001669 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0011604 biolink:PhenotypicFeature HP:0011661 biolink:PhenotypicFeature HP:0012303 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0031014 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0004383 biolink:PhenotypicFeature HP:0004935 biolink:PhenotypicFeature HP:0012020 biolink:PhenotypicFeature HP:0031934 biolink:PhenotypicFeature Orphanet:98960 biolink:Disease Thiel-Behnke corneal dystrophy HP:0007881 biolink:PhenotypicFeature HP:0007924 biolink:PhenotypicFeature HP:0008039 biolink:PhenotypicFeature HP:0000495 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0007759 biolink:PhenotypicFeature HP:0032148 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature Orphanet:98784 biolink:Disease Autosomal dominant nocturnal frontal lobe epilepsy HP:0031951 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0002268 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0002883 biolink:PhenotypicFeature HP:0011174 biolink:PhenotypicFeature HP:0011182 biolink:PhenotypicFeature HP:0011193 biolink:PhenotypicFeature HP:0025236 biolink:PhenotypicFeature HP:0025237 biolink:PhenotypicFeature HP:0031535 biolink:PhenotypicFeature HP:0031589 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001345 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0025235 biolink:PhenotypicFeature Orphanet:98964 biolink:Disease Lattice corneal dystrophy type I HP:0000481 biolink:PhenotypicFeature HP:0000559 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0001149 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0011493 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000495 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0008039 biolink:PhenotypicFeature HP:0012040 biolink:PhenotypicFeature HP:0025337 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature HP:0007924 biolink:PhenotypicFeature HP:0008511 biolink:PhenotypicFeature HP:0011003 biolink:PhenotypicFeature HP:0012155 biolink:PhenotypicFeature Orphanet:101077 biolink:Disease X-linked Charcot-Marie-Tooth disease type 3 HP:0001270 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003431 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0008110 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0008954 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0009063 biolink:PhenotypicFeature HP:0030237 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0007149 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature Orphanet:101076 biolink:Disease X-linked Charcot-Marie-Tooth disease type 2 HP:0001284 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0003431 biolink:PhenotypicFeature HP:0003444 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0008954 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0011399 biolink:PhenotypicFeature HP:0011727 biolink:PhenotypicFeature HP:0030237 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0001138 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0007924 biolink:PhenotypicFeature HP:0031866 biolink:PhenotypicFeature Orphanet:85128 biolink:Disease Bothnia retinal dystrophy HP:0000529 biolink:PhenotypicFeature HP:0000551 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0030469 biolink:PhenotypicFeature HP:0030474 biolink:PhenotypicFeature HP:0030618 biolink:PhenotypicFeature HP:0000493 biolink:PhenotypicFeature HP:0000539 biolink:PhenotypicFeature HP:0000546 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000608 biolink:PhenotypicFeature HP:0007814 biolink:PhenotypicFeature HP:0032118 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000603 biolink:PhenotypicFeature HP:0000610 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0001129 biolink:PhenotypicFeature HP:0007722 biolink:PhenotypicFeature HP:0007984 biolink:PhenotypicFeature HP:0030528 biolink:PhenotypicFeature HP:0030529 biolink:PhenotypicFeature HP:0007737 biolink:PhenotypicFeature Orphanet:506 biolink:Disease Leigh syndrome HP:0002151 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003648 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0002171 biolink:PhenotypicFeature HP:0002344 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002415 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0002928 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0006943 biolink:PhenotypicFeature HP:0007183 biolink:PhenotypicFeature HP:0008336 biolink:PhenotypicFeature HP:0008972 biolink:PhenotypicFeature HP:0011923 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012696 biolink:PhenotypicFeature HP:0012707 biolink:PhenotypicFeature HP:0012747 biolink:PhenotypicFeature HP:0012748 biolink:PhenotypicFeature HP:0012751 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature HP:0031691 biolink:PhenotypicFeature HP:0100321 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001264 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001993 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002305 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0002542 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0002909 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003219 biolink:PhenotypicFeature HP:0003348 biolink:PhenotypicFeature HP:0003390 biolink:PhenotypicFeature HP:0003535 biolink:PhenotypicFeature HP:0008347 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011924 biolink:PhenotypicFeature HP:0012120 biolink:PhenotypicFeature HP:0200147 biolink:PhenotypicFeature HP:0410145 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000124 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001947 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0008314 biolink:PhenotypicFeature HP:0011335 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0040197 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature Orphanet:83450 biolink:Disease Regional odontodysplasia HP:0000230 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000694 biolink:PhenotypicFeature HP:0000706 biolink:PhenotypicFeature HP:0003771 biolink:PhenotypicFeature HP:0006286 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0006479 biolink:PhenotypicFeature HP:0006481 biolink:PhenotypicFeature HP:0009722 biolink:PhenotypicFeature HP:0010299 biolink:PhenotypicFeature HP:0011073 biolink:PhenotypicFeature HP:0011084 biolink:PhenotypicFeature HP:0030757 biolink:PhenotypicFeature HP:0040264 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000685 biolink:PhenotypicFeature HP:0001572 biolink:PhenotypicFeature HP:0006283 biolink:PhenotypicFeature HP:0006336 biolink:PhenotypicFeature HP:0009085 biolink:PhenotypicFeature HP:0200025 biolink:PhenotypicFeature Orphanet:83597 biolink:Disease Acute disseminated encephalomyelitis HP:0001298 biolink:PhenotypicFeature HP:0007204 biolink:PhenotypicFeature HP:0007305 biolink:PhenotypicFeature HP:0010845 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature HP:0002143 biolink:PhenotypicFeature HP:0002181 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0012486 biolink:PhenotypicFeature HP:0012696 biolink:PhenotypicFeature HP:0012747 biolink:PhenotypicFeature HP:0025373 biolink:PhenotypicFeature HP:0031696 biolink:PhenotypicFeature HP:0032492 biolink:PhenotypicFeature HP:0100786 biolink:PhenotypicFeature HP:0200149 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0010843 biolink:PhenotypicFeature HP:0011151 biolink:PhenotypicFeature HP:0011193 biolink:PhenotypicFeature HP:0030857 biolink:PhenotypicFeature HP:0031179 biolink:PhenotypicFeature HP:0100653 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0006562 biolink:PhenotypicFeature HP:0006597 biolink:PhenotypicFeature HP:0007103 biolink:PhenotypicFeature HP:0012302 biolink:PhenotypicFeature HP:0020088 biolink:PhenotypicFeature HP:0020089 biolink:PhenotypicFeature HP:0031693 biolink:PhenotypicFeature HP:0031695 biolink:PhenotypicFeature Orphanet:79345 biolink:Disease Brachytelephalangic chondrodysplasia punctata HP:0000327 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000410 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0001857 biolink:PhenotypicFeature HP:0002000 biolink:PhenotypicFeature HP:0003508 biolink:PhenotypicFeature HP:0008420 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0010655 biolink:PhenotypicFeature HP:0010666 biolink:PhenotypicFeature HP:0000919 biolink:PhenotypicFeature HP:0001742 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002341 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0002777 biolink:PhenotypicFeature HP:0002787 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0002871 biolink:PhenotypicFeature HP:0002947 biolink:PhenotypicFeature HP:0003316 biolink:PhenotypicFeature HP:0003320 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0003417 biolink:PhenotypicFeature HP:0003467 biolink:PhenotypicFeature HP:0004695 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0008417 biolink:PhenotypicFeature HP:0008434 biolink:PhenotypicFeature HP:0008445 biolink:PhenotypicFeature HP:0008469 biolink:PhenotypicFeature HP:0008754 biolink:PhenotypicFeature HP:0009107 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature HP:0010171 biolink:PhenotypicFeature HP:0010255 biolink:PhenotypicFeature HP:0010646 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature HP:0025426 biolink:PhenotypicFeature HP:3000052 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0004415 biolink:PhenotypicFeature HP:0007766 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0010880 biolink:PhenotypicFeature Orphanet:79445 biolink:Disease Pseudopseudohypoparathyroidism HP:0000311 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009237 biolink:PhenotypicFeature HP:0010044 biolink:PhenotypicFeature HP:0010047 biolink:PhenotypicFeature HP:0010743 biolink:PhenotypicFeature HP:0011986 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0004180 biolink:PhenotypicFeature HP:0009650 biolink:PhenotypicFeature HP:0025027 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002905 biolink:PhenotypicFeature HP:0003165 biolink:PhenotypicFeature Orphanet:79255 biolink:Disease GM1 gangliosidosis type 1 HP:0008166 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0003541 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature HP:0410346 biolink:PhenotypicFeature HP:0000943 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0002267 biolink:PhenotypicFeature HP:0002506 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0007204 biolink:PhenotypicFeature HP:0010729 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0012753 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001230 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002684 biolink:PhenotypicFeature HP:0002690 biolink:PhenotypicFeature HP:0002869 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0004562 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006371 biolink:PhenotypicFeature HP:0008479 biolink:PhenotypicFeature HP:0008807 biolink:PhenotypicFeature HP:0008812 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012307 biolink:PhenotypicFeature HP:0025013 biolink:PhenotypicFeature HP:0100767 biolink:PhenotypicFeature HP:3000050 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature Orphanet:79259 biolink:Disease Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib HP:0001510 biolink:PhenotypicFeature HP:0001538 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006568 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000105 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000858 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0010974 biolink:PhenotypicFeature HP:0100279 biolink:PhenotypicFeature HP:0100512 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature HP:0410252 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000132 biolink:PhenotypicFeature HP:0000155 biolink:PhenotypicFeature HP:0000230 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000696 biolink:PhenotypicFeature HP:0000704 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001114 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002037 biolink:PhenotypicFeature HP:0002173 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0004387 biolink:PhenotypicFeature HP:0005576 biolink:PhenotypicFeature HP:0011890 biolink:PhenotypicFeature HP:0012028 biolink:PhenotypicFeature HP:0012146 biolink:PhenotypicFeature HP:0030950 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0001997 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature Orphanet:91500 biolink:Disease Tubulointerstitial nephritis and uveitis syndrome HP:0001970 biolink:PhenotypicFeature HP:0007813 biolink:PhenotypicFeature HP:0025466 biolink:PhenotypicFeature HP:0032589 biolink:PhenotypicFeature HP:0032590 biolink:PhenotypicFeature HP:0032637 biolink:PhenotypicFeature HP:0001085 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002907 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0012122 biolink:PhenotypicFeature HP:0012123 biolink:PhenotypicFeature HP:0012213 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012595 biolink:PhenotypicFeature HP:0025337 biolink:PhenotypicFeature HP:0100586 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001895 biolink:PhenotypicFeature HP:0001897 biolink:PhenotypicFeature HP:0001994 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003237 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0004918 biolink:PhenotypicFeature HP:0007902 biolink:PhenotypicFeature HP:0007906 biolink:PhenotypicFeature HP:0008682 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0011484 biolink:PhenotypicFeature HP:0011505 biolink:PhenotypicFeature HP:0011506 biolink:PhenotypicFeature HP:0012121 biolink:PhenotypicFeature HP:0012124 biolink:PhenotypicFeature HP:0025188 biolink:PhenotypicFeature HP:0030157 biolink:PhenotypicFeature HP:0031616 biolink:PhenotypicFeature HP:0031851 biolink:PhenotypicFeature HP:0040049 biolink:PhenotypicFeature HP:0100532 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0007777 biolink:PhenotypicFeature HP:0011525 biolink:PhenotypicFeature Orphanet:1505 biolink:Disease Short rib-polydactyly syndrome HP:0000773 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000888 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0003016 biolink:PhenotypicFeature HP:0004599 biolink:PhenotypicFeature HP:0005054 biolink:PhenotypicFeature HP:0005257 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature HP:0009106 biolink:PhenotypicFeature HP:0009381 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0010660 biolink:PhenotypicFeature HP:0010675 biolink:PhenotypicFeature HP:0011314 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000090 biolink:PhenotypicFeature HP:0000113 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000946 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001407 biolink:PhenotypicFeature HP:0001538 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001669 biolink:PhenotypicFeature HP:0002006 biolink:PhenotypicFeature HP:0002060 biolink:PhenotypicFeature HP:0002589 biolink:PhenotypicFeature HP:0002693 biolink:PhenotypicFeature HP:0002867 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003180 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0005483 biolink:PhenotypicFeature HP:0005736 biolink:PhenotypicFeature HP:0005766 biolink:PhenotypicFeature HP:0010454 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature HP:0010880 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011849 biolink:PhenotypicFeature HP:0025423 biolink:PhenotypicFeature HP:0040163 biolink:PhenotypicFeature HP:0100779 biolink:PhenotypicFeature HP:0410030 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000476 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000882 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001696 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0010766 biolink:PhenotypicFeature HP:0100611 biolink:PhenotypicFeature Orphanet:90283 biolink:Disease Lupus erythematosus tumidus HP:0000992 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0031191 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0025528 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0030351 biolink:PhenotypicFeature HP:0032235 biolink:PhenotypicFeature HP:0020151 biolink:PhenotypicFeature HP:0007483 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0100699 biolink:PhenotypicFeature Orphanet:90658 biolink:Disease Charcot-Marie-Tooth disease type 1E HP:0000407 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0000615 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002522 biolink:PhenotypicFeature HP:0002600 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature HP:0008962 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0009049 biolink:PhenotypicFeature HP:0009130 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature HP:0010830 biolink:PhenotypicFeature HP:0010832 biolink:PhenotypicFeature HP:0011727 biolink:PhenotypicFeature HP:0012074 biolink:PhenotypicFeature HP:0012391 biolink:PhenotypicFeature HP:0030211 biolink:PhenotypicFeature HP:0030237 biolink:PhenotypicFeature HP:0031006 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001765 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0008110 biolink:PhenotypicFeature HP:0008124 biolink:PhenotypicFeature HP:0009473 biolink:PhenotypicFeature HP:0009916 biolink:PhenotypicFeature HP:0011476 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature Orphanet:90003 biolink:Disease Inflammatory pseudotumor of the liver HP:0002896 biolink:PhenotypicFeature HP:0031140 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001080 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0025406 biolink:PhenotypicFeature HP:0410369 biolink:PhenotypicFeature HP:0031956 biolink:PhenotypicFeature HP:0031964 biolink:PhenotypicFeature HP:0006254 biolink:PhenotypicFeature Orphanet:90117 biolink:Disease Hereditary motor and sensory neuropathy, Okinawa type HP:0001284 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0011964 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0030179 biolink:PhenotypicFeature HP:0030200 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002483 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003698 biolink:PhenotypicFeature HP:0007289 biolink:PhenotypicFeature HP:0010546 biolink:PhenotypicFeature HP:0030007 biolink:PhenotypicFeature HP:0031910 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0010827 biolink:PhenotypicFeature HP:0011014 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0410262 biolink:PhenotypicFeature Orphanet:87884 biolink:Disease Non-syndromic genetic deafness HP:0000399 biolink:PhenotypicFeature HP:0000408 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001963 biolink:PhenotypicFeature HP:0008596 biolink:PhenotypicFeature HP:0011476 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0005101 biolink:PhenotypicFeature HP:0007670 biolink:PhenotypicFeature HP:0011474 biolink:PhenotypicFeature HP:0012713 biolink:PhenotypicFeature HP:0012714 biolink:PhenotypicFeature HP:0008573 biolink:PhenotypicFeature Orphanet:89938 biolink:Disease Bartter syndrome type 4 HP:0000127 biolink:PhenotypicFeature HP:0000841 biolink:PhenotypicFeature HP:0000848 biolink:PhenotypicFeature HP:0000859 biolink:PhenotypicFeature HP:0001960 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0004727 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0002917 biolink:PhenotypicFeature HP:0003081 biolink:PhenotypicFeature HP:0003113 biolink:PhenotypicFeature HP:0003527 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0025335 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0001525 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature Orphanet:71273 biolink:Disease Renal nutcracker syndrome HP:0000093 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001920 biolink:PhenotypicFeature HP:0002619 biolink:PhenotypicFeature HP:0011934 biolink:PhenotypicFeature HP:0012871 biolink:PhenotypicFeature HP:0030157 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002907 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100677 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0001278 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0030016 biolink:PhenotypicFeature HP:0100607 biolink:PhenotypicFeature Orphanet:70593 biolink:Disease Immunodeficiency due to selective anti-polysaccharide antibody deficiency HP:0002848 biolink:PhenotypicFeature HP:0410299 biolink:PhenotypicFeature HP:0410300 biolink:PhenotypicFeature HP:0410302 biolink:PhenotypicFeature HP:0410303 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0012384 biolink:PhenotypicFeature HP:0030374 biolink:PhenotypicFeature HP:0031949 biolink:PhenotypicFeature HP:0200117 biolink:PhenotypicFeature HP:0001047 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0007274 biolink:PhenotypicFeature HP:0010976 biolink:PhenotypicFeature HP:0410240 biolink:PhenotypicFeature HP:0410242 biolink:PhenotypicFeature HP:0410243 biolink:PhenotypicFeature HP:0410295 biolink:PhenotypicFeature Orphanet:69665 biolink:Disease Intrahepatic cholestasis of pregnancy HP:0000989 biolink:PhenotypicFeature HP:0012202 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0025031 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0012420 biolink:PhenotypicFeature HP:0012689 biolink:PhenotypicFeature HP:0030782 biolink:PhenotypicFeature HP:0030900 biolink:PhenotypicFeature HP:0031248 biolink:PhenotypicFeature HP:0100602 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001082 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001732 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0012164 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature Orphanet:35069 biolink:Disease Infantile neuroaxonal dystrophy HP:0003444 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012675 biolink:PhenotypicFeature HP:0012677 biolink:PhenotypicFeature HP:0012698 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0005968 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0012043 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0005949 biolink:PhenotypicFeature HP:0010545 biolink:PhenotypicFeature HP:0025331 biolink:PhenotypicFeature HP:0030842 biolink:PhenotypicFeature HP:0031358 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002361 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002191 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002483 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0003134 biolink:PhenotypicFeature HP:0003405 biolink:PhenotypicFeature Orphanet:157850 biolink:Disease Pantothenate kinase-associated neurodegeneration HP:0000505 biolink:PhenotypicFeature HP:0000546 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002454 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001927 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0002483 biolink:PhenotypicFeature HP:0007994 biolink:PhenotypicFeature HP:0008181 biolink:PhenotypicFeature HP:0009763 biolink:PhenotypicFeature HP:0012045 biolink:PhenotypicFeature HP:0012179 biolink:PhenotypicFeature HP:0012677 biolink:PhenotypicFeature HP:0012678 biolink:PhenotypicFeature HP:0031959 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000619 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001152 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0003084 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007132 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0011504 biolink:PhenotypicFeature HP:0011916 biolink:PhenotypicFeature HP:0025402 biolink:PhenotypicFeature HP:0031814 biolink:PhenotypicFeature HP:0031937 biolink:PhenotypicFeature HP:0032014 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0100033 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001345 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature Orphanet:66529 biolink:Disease Tako-Tsubo cardiomyopathy HP:0012663 biolink:PhenotypicFeature HP:0010872 biolink:PhenotypicFeature HP:0012251 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0410174 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0005184 biolink:PhenotypicFeature HP:0006698 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0009805 biolink:PhenotypicFeature HP:0012250 biolink:PhenotypicFeature HP:0025077 biolink:PhenotypicFeature HP:0031138 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0001663 biolink:PhenotypicFeature HP:0001727 biolink:PhenotypicFeature HP:0004308 biolink:PhenotypicFeature HP:0005110 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0030149 biolink:PhenotypicFeature HP:0100598 biolink:PhenotypicFeature HP:0001677 biolink:PhenotypicFeature HP:0005145 biolink:PhenotypicFeature HP:0006704 biolink:PhenotypicFeature Orphanet:65683 biolink:Disease Isolated focal cortical dysplasia HP:0000707 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002361 biolink:PhenotypicFeature HP:0012757 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002536 biolink:PhenotypicFeature HP:0006891 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0031951 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0007334 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011097 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0025170 biolink:PhenotypicFeature Orphanet:64745 biolink:Disease Pruritic urticarial papules and plaques of pregnancy HP:0000989 biolink:PhenotypicFeature HP:0001065 biolink:PhenotypicFeature HP:0030350 biolink:PhenotypicFeature HP:0030351 biolink:PhenotypicFeature HP:0001036 biolink:PhenotypicFeature HP:0004324 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0030898 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature HP:0001041 biolink:PhenotypicFeature HP:0030899 biolink:PhenotypicFeature HP:0030900 biolink:PhenotypicFeature HP:0031248 biolink:PhenotypicFeature HP:0031538 biolink:PhenotypicFeature HP:0100872 biolink:PhenotypicFeature HP:0000976 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0025493 biolink:PhenotypicFeature HP:0030901 biolink:PhenotypicFeature HP:0002715 biolink:PhenotypicFeature Orphanet:79151 biolink:Disease Acrokeratosis verruciformis of Hopf HP:0000962 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0025092 biolink:PhenotypicFeature HP:0025114 biolink:PhenotypicFeature HP:0025512 biolink:PhenotypicFeature HP:0001820 biolink:PhenotypicFeature HP:0007530 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature HP:0200043 biolink:PhenotypicFeature HP:0001798 biolink:PhenotypicFeature HP:0001036 biolink:PhenotypicFeature HP:0100792 biolink:PhenotypicFeature Orphanet:255 biolink:Disease Dopa-responsive dystonia HP:0001332 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001575 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003785 biolink:PhenotypicFeature HP:0010553 biolink:PhenotypicFeature HP:0031959 biolink:PhenotypicFeature HP:0040207 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000756 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002370 biolink:PhenotypicFeature HP:0002375 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0003473 biolink:PhenotypicFeature HP:0003781 biolink:PhenotypicFeature HP:0007325 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0012704 biolink:PhenotypicFeature HP:0025269 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature HP:0031960 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature Orphanet:1867 biolink:Disease Hereditary bullous dystrophy, macular type HP:0000252 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001063 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005590 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0009381 biolink:PhenotypicFeature HP:0011361 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000262 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0500262 biolink:PhenotypicFeature Orphanet:79148 biolink:Disease Elastosis perforans serpiginosa HP:0000464 biolink:PhenotypicFeature HP:0045059 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0025512 biolink:PhenotypicFeature HP:0025527 biolink:PhenotypicFeature HP:0025528 biolink:PhenotypicFeature HP:0030350 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature HP:0000973 biolink:PhenotypicFeature HP:0007473 biolink:PhenotypicFeature HP:0025092 biolink:PhenotypicFeature Orphanet:79144 biolink:Disease Isolated congenital onychodysplasia HP:0001816 biolink:PhenotypicFeature HP:0010793 biolink:PhenotypicFeature HP:0030805 biolink:PhenotypicFeature HP:0100797 biolink:PhenotypicFeature HP:0100798 biolink:PhenotypicFeature HP:0001598 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0005918 biolink:PhenotypicFeature HP:0008401 biolink:PhenotypicFeature HP:0009951 biolink:PhenotypicFeature HP:0011313 biolink:PhenotypicFeature HP:0030803 biolink:PhenotypicFeature HP:0031282 biolink:PhenotypicFeature HP:0040036 biolink:PhenotypicFeature HP:0001798 biolink:PhenotypicFeature HP:0012203 biolink:PhenotypicFeature HP:0012710 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0012296 biolink:PhenotypicFeature Orphanet:75565 biolink:Disease Tropical endomyocardial fibrosis HP:0006685 biolink:PhenotypicFeature HP:0001723 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0003115 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001678 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0004395 biolink:PhenotypicFeature HP:0006677 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011712 biolink:PhenotypicFeature HP:0011713 biolink:PhenotypicFeature HP:0012249 biolink:PhenotypicFeature HP:0012398 biolink:PhenotypicFeature HP:0012764 biolink:PhenotypicFeature HP:0025077 biolink:PhenotypicFeature HP:0025168 biolink:PhenotypicFeature HP:0030950 biolink:PhenotypicFeature HP:0031295 biolink:PhenotypicFeature HP:0031664 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature HP:0004749 biolink:PhenotypicFeature HP:0004755 biolink:PhenotypicFeature HP:0005110 biolink:PhenotypicFeature HP:0005135 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0006690 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0011663 biolink:PhenotypicFeature HP:0012664 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0030149 biolink:PhenotypicFeature HP:0030783 biolink:PhenotypicFeature HP:0030848 biolink:PhenotypicFeature HP:0031595 biolink:PhenotypicFeature HP:0031650 biolink:PhenotypicFeature HP:0005145 biolink:PhenotypicFeature HP:0031601 biolink:PhenotypicFeature Orphanet:75382 biolink:Disease Oguchi disease HP:0007642 biolink:PhenotypicFeature HP:0007984 biolink:PhenotypicFeature HP:0030824 biolink:PhenotypicFeature HP:0000539 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000608 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0007641 biolink:PhenotypicFeature Orphanet:71505 biolink:Disease Cancer-associated retinopathy HP:0000572 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0006758 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007830 biolink:PhenotypicFeature HP:0007984 biolink:PhenotypicFeature HP:0007987 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0030357 biolink:PhenotypicFeature HP:0030786 biolink:PhenotypicFeature HP:0100013 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000603 biolink:PhenotypicFeature HP:0001105 biolink:PhenotypicFeature HP:0001133 biolink:PhenotypicFeature HP:0004377 biolink:PhenotypicFeature HP:0007641 biolink:PhenotypicFeature HP:0007722 biolink:PhenotypicFeature HP:0007793 biolink:PhenotypicFeature HP:0010784 biolink:PhenotypicFeature HP:0010788 biolink:PhenotypicFeature HP:0012189 biolink:PhenotypicFeature HP:0030528 biolink:PhenotypicFeature HP:0030627 biolink:PhenotypicFeature HP:0100275 biolink:PhenotypicFeature HP:0100522 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0002367 biolink:PhenotypicFeature HP:0002894 biolink:PhenotypicFeature HP:0003003 biolink:PhenotypicFeature HP:0006725 biolink:PhenotypicFeature HP:0011531 biolink:PhenotypicFeature HP:0012056 biolink:PhenotypicFeature HP:0012125 biolink:PhenotypicFeature Orphanet:447788 biolink:Disease Cerebral visual impairment HP:0002500 biolink:PhenotypicFeature HP:0002060 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0011450 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0025315 biolink:PhenotypicFeature HP:0002180 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0010794 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0007009 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000539 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0012796 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0001141 biolink:PhenotypicFeature HP:0025405 biolink:PhenotypicFeature HP:0007772 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002140 biolink:PhenotypicFeature HP:0001998 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0032046 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0030800 biolink:PhenotypicFeature HP:0500049 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000641 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature Orphanet:411696 biolink:Disease Proton-pump inhibitor-responsive esophageal eosinophilia HP:0002015 biolink:PhenotypicFeature HP:0410151 biolink:PhenotypicFeature HP:0100633 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0030914 biolink:PhenotypicFeature HP:0500093 biolink:PhenotypicFeature HP:0004789 biolink:PhenotypicFeature HP:0410328 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0500095 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0003193 biolink:PhenotypicFeature HP:0001047 biolink:PhenotypicFeature HP:0410227 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0410019 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0031984 biolink:PhenotypicFeature HP:0031985 biolink:PhenotypicFeature HP:0031858 biolink:PhenotypicFeature HP:0010450 biolink:PhenotypicFeature HP:0410152 biolink:PhenotypicFeature HP:0002032 biolink:PhenotypicFeature Orphanet:95699 biolink:Disease Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency HP:0001999 biolink:PhenotypicFeature HP:0011911 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000262 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0001440 biolink:PhenotypicFeature HP:0009701 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0003041 biolink:PhenotypicFeature HP:0005892 biolink:PhenotypicFeature HP:0008368 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000811 biolink:PhenotypicFeature HP:0000055 biolink:PhenotypicFeature HP:0040253 biolink:PhenotypicFeature HP:0025486 biolink:PhenotypicFeature HP:0000032 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0003154 biolink:PhenotypicFeature HP:0008163 biolink:PhenotypicFeature HP:0031074 biolink:PhenotypicFeature HP:0031213 biolink:PhenotypicFeature HP:0031216 biolink:PhenotypicFeature HP:0031187 biolink:PhenotypicFeature HP:0031215 biolink:PhenotypicFeature HP:0030349 biolink:PhenotypicFeature HP:0031083 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0008675 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000798 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0008072 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0003070 biolink:PhenotypicFeature HP:0001377 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0002980 biolink:PhenotypicFeature HP:0011302 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0000882 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0003275 biolink:PhenotypicFeature HP:0006439 biolink:PhenotypicFeature HP:0003049 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0005913 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0006118 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000452 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000402 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0010946 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0001545 biolink:PhenotypicFeature HP:0011403 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0007466 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0010862 biolink:PhenotypicFeature HP:0003826 biolink:PhenotypicFeature HP:0000927 biolink:PhenotypicFeature HP:0009738 biolink:PhenotypicFeature HP:0000363 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0032362 biolink:PhenotypicFeature HP:0011969 biolink:PhenotypicFeature HP:0008232 biolink:PhenotypicFeature HP:0008214 biolink:PhenotypicFeature HP:0031100 biolink:PhenotypicFeature HP:0008221 biolink:PhenotypicFeature HP:0031065 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature Orphanet:449291 biolink:Disease Symptomatic form of fragile X syndrome in female carriers HP:0001252 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0100023 biolink:PhenotypicFeature HP:0100962 biolink:PhenotypicFeature HP:0000817 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0002616 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002442 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000836 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature Orphanet:79263 biolink:Disease Infantile neuronal ceroid lipofuscinosis HP:0000726 biolink:PhenotypicFeature HP:0002333 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0003657 biolink:PhenotypicFeature HP:0033044 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0011209 biolink:PhenotypicFeature HP:0002074 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0007987 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0025336 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0003739 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0025373 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0000550 biolink:PhenotypicFeature HP:0030485 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature Orphanet:79262 biolink:Disease Adult neuronal ceroid lipofuscinosis HP:0000726 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002333 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0003657 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0010536 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0003204 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0003208 biolink:PhenotypicFeature Orphanet:168486 biolink:Disease Congenital neuronal ceroid lipofuscinosis HP:0003204 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0010536 biolink:PhenotypicFeature HP:0032794 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0010851 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0006872 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0007162 biolink:PhenotypicFeature HP:0002171 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0007190 biolink:PhenotypicFeature HP:0100707 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0003657 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0008772 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature Orphanet:79264 biolink:Disease Juvenile neuronal ceroid lipofuscinosis HP:0000572 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000546 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0002275 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0001129 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0007064 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0003739 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0033454 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0025373 biolink:PhenotypicFeature HP:0002333 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0005324 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0032324 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0002876 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0012692 biolink:PhenotypicFeature HP:0007183 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature Orphanet:352540 biolink:Disease Oncogenic osteomalacia HP:0001288 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0000117 biolink:PhenotypicFeature HP:0002669 biolink:PhenotypicFeature HP:0011847 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0030731 biolink:PhenotypicFeature HP:0001067 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0003109 biolink:PhenotypicFeature HP:0002148 biolink:PhenotypicFeature HP:0010734 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0002756 biolink:PhenotypicFeature HP:0010622 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0012288 biolink:PhenotypicFeature HP:0001850 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0040163 biolink:PhenotypicFeature HP:0002982 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature Orphanet:331235 biolink:Disease Selective IgM deficiency HP:0002719 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0001047 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0200043 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0002850 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0012432 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0002720 biolink:PhenotypicFeature HP:0004315 biolink:PhenotypicFeature HP:0011109 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0032261 biolink:PhenotypicFeature HP:0032262 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0001370 biolink:PhenotypicFeature HP:0001973 biolink:PhenotypicFeature HP:0001904 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0012204 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0002840 biolink:PhenotypicFeature HP:0005353 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0025439 biolink:PhenotypicFeature HP:0031691 biolink:PhenotypicFeature HP:0030757 biolink:PhenotypicFeature HP:0033430 biolink:PhenotypicFeature HP:0011370 biolink:PhenotypicFeature HP:0007499 biolink:PhenotypicFeature HP:0100537 biolink:PhenotypicFeature HP:0002837 biolink:PhenotypicFeature HP:0031292 biolink:PhenotypicFeature HP:0032275 biolink:PhenotypicFeature HP:0012203 biolink:PhenotypicFeature HP:0009098 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0032170 biolink:PhenotypicFeature HP:0012393 biolink:PhenotypicFeature HP:0003193 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0031047 biolink:PhenotypicFeature HP:0006775 biolink:PhenotypicFeature HP:0012539 biolink:PhenotypicFeature HP:0002890 biolink:PhenotypicFeature HP:0012126 biolink:PhenotypicFeature HP:0045080 biolink:PhenotypicFeature HP:0032218 biolink:PhenotypicFeature HP:0005415 biolink:PhenotypicFeature HP:0030380 biolink:PhenotypicFeature HP:0032140 biolink:PhenotypicFeature HP:0100280 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0011108 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0004798 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:363549 biolink:Disease Acute encephalopathy with biphasic seizures and late reduced diffusion HP:0002069 biolink:PhenotypicFeature HP:0007103 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0011172 biolink:PhenotypicFeature HP:0012705 biolink:PhenotypicFeature HP:0031691 biolink:PhenotypicFeature HP:0032308 biolink:PhenotypicFeature HP:0032894 biolink:PhenotypicFeature HP:0033349 biolink:PhenotypicFeature HP:0007738 biolink:PhenotypicFeature HP:0031475 biolink:PhenotypicFeature HP:0011665 biolink:PhenotypicFeature Orphanet:353253 biolink:Disease Burning mouth syndrome HP:0012534 biolink:PhenotypicFeature HP:0031249 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature HP:0010824 biolink:PhenotypicFeature HP:0007377 biolink:PhenotypicFeature HP:0032143 biolink:PhenotypicFeature HP:0000223 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0030811 biolink:PhenotypicFeature HP:0000168 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0031042 biolink:PhenotypicFeature HP:0010298 biolink:PhenotypicFeature Orphanet:364055 biolink:Disease Severe early-childhood-onset retinal dystrophy HP:0007722 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0011488 biolink:PhenotypicFeature HP:0011484 biolink:PhenotypicFeature HP:0007787 biolink:PhenotypicFeature HP:0001116 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0012230 biolink:PhenotypicFeature HP:0000546 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0000550 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0007695 biolink:PhenotypicFeature HP:0012434 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0007994 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0012426 biolink:PhenotypicFeature HP:0007843 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0001103 biolink:PhenotypicFeature HP:0007814 biolink:PhenotypicFeature HP:0007737 biolink:PhenotypicFeature HP:0000551 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000533 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0007793 biolink:PhenotypicFeature Orphanet:363558 biolink:Disease New-onset refractory status epilepticus HP:0002133 biolink:PhenotypicFeature HP:0025373 biolink:PhenotypicFeature HP:0032867 biolink:PhenotypicFeature HP:0032894 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002457 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0007183 biolink:PhenotypicFeature HP:0007334 biolink:PhenotypicFeature HP:0010845 biolink:PhenotypicFeature HP:0011154 biolink:PhenotypicFeature HP:0011468 biolink:PhenotypicFeature HP:0012229 biolink:PhenotypicFeature HP:0020217 biolink:PhenotypicFeature HP:0030782 biolink:PhenotypicFeature HP:0033716 biolink:PhenotypicFeature HP:0033717 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0010841 biolink:PhenotypicFeature HP:0010850 biolink:PhenotypicFeature HP:0011198 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012696 biolink:PhenotypicFeature HP:0030915 biolink:PhenotypicFeature HP:0031358 biolink:PhenotypicFeature HP:0032794 biolink:PhenotypicFeature HP:0012751 biolink:PhenotypicFeature HP:0031475 biolink:PhenotypicFeature Orphanet:398147 biolink:Disease Persistent idiopathic facial pain HP:0025282 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003489 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0012532 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0032143 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature Orphanet:398063 biolink:Disease Refractory celiac disease HP:0011473 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0001935 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0002853 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0003075 biolink:PhenotypicFeature HP:0002917 biolink:PhenotypicFeature HP:0002148 biolink:PhenotypicFeature HP:0001891 biolink:PhenotypicFeature HP:0001897 biolink:PhenotypicFeature HP:0001972 biolink:PhenotypicFeature HP:0010639 biolink:PhenotypicFeature HP:0012052 biolink:PhenotypicFeature HP:0025409 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0004395 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0033143 biolink:PhenotypicFeature HP:0002243 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature Orphanet:449427 biolink:Disease IgG4-related pachymeningitis HP:0002921 biolink:PhenotypicFeature HP:0010652 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0032300 biolink:PhenotypicFeature HP:0000123 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002176 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002385 biolink:PhenotypicFeature HP:0002840 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0003419 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0009744 biolink:PhenotypicFeature HP:0009911 biolink:PhenotypicFeature HP:0010558 biolink:PhenotypicFeature HP:0011850 biolink:PhenotypicFeature HP:0030833 biolink:PhenotypicFeature HP:0045052 biolink:PhenotypicFeature HP:3000035 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0004431 biolink:PhenotypicFeature Orphanet:293381 biolink:Disease Epithelial recurrent erosion dystrophy HP:0200026 biolink:PhenotypicFeature HP:0009926 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0001131 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0008039 biolink:PhenotypicFeature HP:0000495 biolink:PhenotypicFeature HP:0000559 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0031792 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature Orphanet:293603 biolink:Disease Congenital hereditary endothelial dystrophy type II HP:0031792 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0011487 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0011490 biolink:PhenotypicFeature HP:0012040 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature Orphanet:319552 biolink:Disease Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency HP:0011274 biolink:PhenotypicFeature HP:0032283 biolink:PhenotypicFeature HP:0030782 biolink:PhenotypicFeature HP:0005661 biolink:PhenotypicFeature HP:0005401 biolink:PhenotypicFeature HP:0007408 biolink:PhenotypicFeature HP:0002840 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0020087 biolink:PhenotypicFeature HP:0200029 biolink:PhenotypicFeature HP:0002742 biolink:PhenotypicFeature HP:0032256 biolink:PhenotypicFeature HP:0032249 biolink:PhenotypicFeature HP:0020105 biolink:PhenotypicFeature Orphanet:293812 biolink:Disease Fixed drug eruption HP:0011356 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0020172 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0000155 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature HP:0010280 biolink:PhenotypicFeature HP:0007473 biolink:PhenotypicFeature HP:0003341 biolink:PhenotypicFeature HP:0410323 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0032565 biolink:PhenotypicFeature HP:0032156 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature Orphanet:294975 biolink:Disease Congenital absence of upper arm and forearm with hand present HP:0001627 biolink:PhenotypicFeature HP:0009813 biolink:PhenotypicFeature HP:0003826 biolink:PhenotypicFeature HP:0033127 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000464 biolink:PhenotypicFeature HP:0011603 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature Orphanet:324636 biolink:Disease Autoerythrocyte sensitization syndrome HP:0000978 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0031364 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0025406 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0005261 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0033676 biolink:PhenotypicFeature HP:0001894 biolink:PhenotypicFeature HP:0008352 biolink:PhenotypicFeature HP:0003645 biolink:PhenotypicFeature HP:0001877 biolink:PhenotypicFeature HP:0001973 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0040064 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0410019 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0000132 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0030140 biolink:PhenotypicFeature HP:0012233 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0008770 biolink:PhenotypicFeature HP:0012076 biolink:PhenotypicFeature HP:0031190 biolink:PhenotypicFeature Orphanet:329967 biolink:Disease Intermittent hydrarthrosis HP:0001386 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0045086 biolink:PhenotypicFeature HP:0000934 biolink:PhenotypicFeature Orphanet:1465 biolink:Disease Coffin-Siris syndrome HP:0000154 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0011231 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000289 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008398 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0009237 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011937 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0012810 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0009879 biolink:PhenotypicFeature HP:0012523 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002884 biolink:PhenotypicFeature HP:0002895 biolink:PhenotypicFeature Orphanet:2152 biolink:Disease Mowat-Wilson syndrome HP:0000020 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000437 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002427 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0005274 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0009487 biolink:PhenotypicFeature HP:0009765 biolink:PhenotypicFeature HP:0009909 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0010511 biolink:PhenotypicFeature HP:0010761 biolink:PhenotypicFeature HP:0010845 biolink:PhenotypicFeature HP:0010862 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011228 biolink:PhenotypicFeature HP:0011229 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0040082 biolink:PhenotypicFeature HP:0000003 biolink:PhenotypicFeature HP:0000075 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000125 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000480 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000692 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001492 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001746 biolink:PhenotypicFeature HP:0001848 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002335 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0003763 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004387 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0007042 biolink:PhenotypicFeature HP:0007048 biolink:PhenotypicFeature HP:0007165 biolink:PhenotypicFeature HP:0007270 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0010850 biolink:PhenotypicFeature HP:0012081 biolink:PhenotypicFeature HP:0025100 biolink:PhenotypicFeature HP:0025156 biolink:PhenotypicFeature HP:0032046 biolink:PhenotypicFeature HP:0000034 biolink:PhenotypicFeature HP:0000041 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0001153 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002777 biolink:PhenotypicFeature HP:0004961 biolink:PhenotypicFeature HP:0011326 biolink:PhenotypicFeature HP:0030264 biolink:PhenotypicFeature HP:0410005 biolink:PhenotypicFeature HP:0410031 biolink:PhenotypicFeature Orphanet:2614 biolink:Disease Nail-patella syndrome HP:0001597 biolink:PhenotypicFeature HP:0011297 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0008034 biolink:PhenotypicFeature HP:0008110 biolink:PhenotypicFeature HP:0009780 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0012718 biolink:PhenotypicFeature HP:0100798 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000123 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001377 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001771 biolink:PhenotypicFeature HP:0001772 biolink:PhenotypicFeature HP:0001884 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0002967 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0003045 biolink:PhenotypicFeature HP:0003065 biolink:PhenotypicFeature HP:0003083 biolink:PhenotypicFeature HP:0003302 biolink:PhenotypicFeature HP:0003304 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0004722 biolink:PhenotypicFeature HP:0005190 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006394 biolink:PhenotypicFeature HP:0006443 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0007906 biolink:PhenotypicFeature HP:0008007 biolink:PhenotypicFeature HP:0008124 biolink:PhenotypicFeature HP:0009697 biolink:PhenotypicFeature HP:0009760 biolink:PhenotypicFeature HP:0009781 biolink:PhenotypicFeature HP:0009890 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature HP:0010886 biolink:PhenotypicFeature HP:0012108 biolink:PhenotypicFeature HP:0030839 biolink:PhenotypicFeature HP:0031006 biolink:PhenotypicFeature HP:0031910 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0045086 biolink:PhenotypicFeature HP:0100797 biolink:PhenotypicFeature HP:0002597 biolink:PhenotypicFeature HP:0005290 biolink:PhenotypicFeature HP:0006702 biolink:PhenotypicFeature Orphanet:2044 biolink:Disease Floating-Harbor syndrome HP:0001518 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000914 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000711 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000878 biolink:PhenotypicFeature HP:0000894 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001611 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0003037 biolink:PhenotypicFeature HP:0003083 biolink:PhenotypicFeature HP:0003189 biolink:PhenotypicFeature HP:0003879 biolink:PhenotypicFeature HP:0005743 biolink:PhenotypicFeature HP:0006335 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0009765 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010946 biolink:PhenotypicFeature HP:0010957 biolink:PhenotypicFeature HP:0011300 biolink:PhenotypicFeature HP:0012871 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0030424 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0000113 biolink:PhenotypicFeature HP:0000593 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002608 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0005301 biolink:PhenotypicFeature HP:0008554 biolink:PhenotypicFeature HP:0011599 biolink:PhenotypicFeature HP:0012538 biolink:PhenotypicFeature Orphanet:72 biolink:Disease Angelman syndrome HP:0000252 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000748 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002286 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0006979 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010808 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100023 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000563 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000817 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0007266 biolink:PhenotypicFeature HP:0007270 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature HP:0010465 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0012569 biolink:PhenotypicFeature HP:0040082 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0100703 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature Orphanet:261197 biolink:Disease Proximal 16p11.2 microdeletion syndrome HP:0000708 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0006863 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0011351 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001646 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002280 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002691 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0007099 biolink:PhenotypicFeature HP:0007166 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100702 biolink:PhenotypicFeature HP:0000003 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000902 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001651 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature Orphanet:449400 biolink:Disease IgG4-related aortitis HP:0010702 biolink:PhenotypicFeature HP:0032300 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature HP:0003419 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0012393 biolink:PhenotypicFeature HP:0012649 biolink:PhenotypicFeature HP:0012727 biolink:PhenotypicFeature HP:0032061 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0002647 biolink:PhenotypicFeature HP:0004431 biolink:PhenotypicFeature HP:0004970 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0012303 biolink:PhenotypicFeature HP:0031252 biolink:PhenotypicFeature HP:0032230 biolink:PhenotypicFeature HP:0430021 biolink:PhenotypicFeature Orphanet:449395 biolink:Disease IgG4-related kidney disease HP:0001970 biolink:PhenotypicFeature HP:0003237 biolink:PhenotypicFeature HP:0032300 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0002923 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0004431 biolink:PhenotypicFeature HP:0005421 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0032298 biolink:PhenotypicFeature HP:0032616 biolink:PhenotypicFeature HP:0045042 biolink:PhenotypicFeature HP:0000024 biolink:PhenotypicFeature HP:0000105 biolink:PhenotypicFeature HP:0000620 biolink:PhenotypicFeature HP:0001082 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0002102 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002840 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature HP:0005200 biolink:PhenotypicFeature HP:0006000 biolink:PhenotypicFeature HP:0006515 biolink:PhenotypicFeature HP:0011109 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0011747 biolink:PhenotypicFeature HP:0012089 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012578 biolink:PhenotypicFeature HP:0012592 biolink:PhenotypicFeature HP:0012593 biolink:PhenotypicFeature HP:0025633 biolink:PhenotypicFeature HP:0030991 biolink:PhenotypicFeature HP:0031032 biolink:PhenotypicFeature HP:0031093 biolink:PhenotypicFeature HP:0031281 biolink:PhenotypicFeature HP:0031549 biolink:PhenotypicFeature HP:0045026 biolink:PhenotypicFeature HP:0100016 biolink:PhenotypicFeature HP:0100577 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature HP:0500006 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0100586 biolink:PhenotypicFeature Orphanet:1215 biolink:Disease Autosomal dominant optic atrophy plus syndrome HP:0000529 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000590 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003325 biolink:PhenotypicFeature HP:0003737 biolink:PhenotypicFeature HP:0004463 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0020119 biolink:PhenotypicFeature HP:0100285 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0001133 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0003438 biolink:PhenotypicFeature HP:0003444 biolink:PhenotypicFeature HP:0007002 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012511 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature Orphanet:70 biolink:Disease Proximal spinal muscular atrophy HP:0003202 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0001283 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001308 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002100 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0003327 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0003731 biolink:PhenotypicFeature HP:0004878 biolink:PhenotypicFeature HP:0004891 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0031108 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001349 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002578 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002791 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0002942 biolink:PhenotypicFeature HP:0003698 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006844 biolink:PhenotypicFeature HP:0008959 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature Orphanet:845 biolink:Disease Tay-Sachs disease HP:0001324 biolink:PhenotypicFeature HP:0002191 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003495 biolink:PhenotypicFeature HP:0010969 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002171 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002311 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0007103 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0009050 biolink:PhenotypicFeature HP:0010729 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0012696 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001377 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002267 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003066 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0004481 biolink:PhenotypicFeature HP:0008959 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0011147 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0012049 biolink:PhenotypicFeature HP:0012515 biolink:PhenotypicFeature HP:0100754 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0003333 biolink:PhenotypicFeature HP:0025013 biolink:PhenotypicFeature HP:0031358 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature Orphanet:3006 biolink:Disease Pyridoxine-dependent epilepsy HP:0003128 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001557 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0010845 biolink:PhenotypicFeature HP:0010851 biolink:PhenotypicFeature HP:0011152 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0020217 biolink:PhenotypicFeature HP:0025116 biolink:PhenotypicFeature HP:0030917 biolink:PhenotypicFeature HP:0000273 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000711 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002188 biolink:PhenotypicFeature HP:0002280 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0010841 biolink:PhenotypicFeature HP:0011097 biolink:PhenotypicFeature HP:0011166 biolink:PhenotypicFeature HP:0011198 biolink:PhenotypicFeature HP:0011199 biolink:PhenotypicFeature HP:0012420 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0012704 biolink:PhenotypicFeature HP:0012768 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature Orphanet:99798 biolink:Disease Oligodontia HP:0000677 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000690 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000696 biolink:PhenotypicFeature HP:0006289 biolink:PhenotypicFeature HP:0006336 biolink:PhenotypicFeature HP:0011051 biolink:PhenotypicFeature HP:0011056 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000679 biolink:PhenotypicFeature HP:0000685 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0006342 biolink:PhenotypicFeature HP:0006344 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0011053 biolink:PhenotypicFeature HP:0011078 biolink:PhenotypicFeature HP:0011219 biolink:PhenotypicFeature HP:0012472 biolink:PhenotypicFeature Orphanet:2745 biolink:Disease Opitz GBBB syndrome HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000349 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008751 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0410030 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000049 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000239 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002100 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0002616 biolink:PhenotypicFeature HP:0004397 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0005301 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0006817 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010307 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0100879 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000539 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000695 biolink:PhenotypicFeature HP:0000813 biolink:PhenotypicFeature HP:0002779 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0010296 biolink:PhenotypicFeature HP:0010518 biolink:PhenotypicFeature Orphanet:909 biolink:Disease Cerebrotendinous xanthomatosis HP:0000505 biolink:PhenotypicFeature HP:0001118 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001138 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002310 biolink:PhenotypicFeature HP:0002385 biolink:PhenotypicFeature HP:0002453 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0005109 biolink:PhenotypicFeature HP:0006958 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007272 biolink:PhenotypicFeature HP:0007377 biolink:PhenotypicFeature HP:0008046 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010874 biolink:PhenotypicFeature HP:0011931 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0012896 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100872 biolink:PhenotypicFeature HP:0000464 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002171 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature HP:0002423 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0002942 biolink:PhenotypicFeature HP:0004416 biolink:PhenotypicFeature HP:0005181 biolink:PhenotypicFeature HP:0006480 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007305 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0007922 biolink:PhenotypicFeature HP:0008516 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0011994 biolink:PhenotypicFeature HP:0012075 biolink:PhenotypicFeature HP:0012706 biolink:PhenotypicFeature HP:0012707 biolink:PhenotypicFeature HP:0031589 biolink:PhenotypicFeature HP:0040078 biolink:PhenotypicFeature HP:0100321 biolink:PhenotypicFeature HP:0200125 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0002196 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0010530 biolink:PhenotypicFeature Orphanet:59 biolink:Disease Allan-Herndon-Dudley syndrome HP:0001249 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002058 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002926 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0045082 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0004488 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature Orphanet:90795 biolink:Disease Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency HP:0000062 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001507 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0003351 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0008163 biolink:PhenotypicFeature HP:0025380 biolink:PhenotypicFeature HP:0030348 biolink:PhenotypicFeature HP:0031213 biolink:PhenotypicFeature HP:0032330 biolink:PhenotypicFeature HP:0000040 biolink:PhenotypicFeature HP:0000061 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000858 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0003154 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008236 biolink:PhenotypicFeature HP:0008665 biolink:PhenotypicFeature HP:0012411 biolink:PhenotypicFeature HP:0012412 biolink:PhenotypicFeature HP:0000127 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0025451 biolink:PhenotypicFeature HP:0030088 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0010314 biolink:PhenotypicFeature Orphanet:90794 biolink:Disease Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency HP:0008163 biolink:PhenotypicFeature HP:0030348 biolink:PhenotypicFeature HP:0031074 biolink:PhenotypicFeature HP:0031213 biolink:PhenotypicFeature HP:0031216 biolink:PhenotypicFeature HP:0000127 biolink:PhenotypicFeature HP:0000140 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000811 biolink:PhenotypicFeature HP:0000841 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001507 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001998 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0003113 biolink:PhenotypicFeature HP:0003154 biolink:PhenotypicFeature HP:0003639 biolink:PhenotypicFeature HP:0004012 biolink:PhenotypicFeature HP:0004319 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0005976 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature HP:0008665 biolink:PhenotypicFeature HP:0011106 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012411 biolink:PhenotypicFeature HP:0012417 biolink:PhenotypicFeature HP:0012605 biolink:PhenotypicFeature HP:0025380 biolink:PhenotypicFeature HP:0030088 biolink:PhenotypicFeature HP:0031066 biolink:PhenotypicFeature HP:0500022 biolink:PhenotypicFeature HP:0000040 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000061 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000151 biolink:PhenotypicFeature HP:0002292 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0010465 biolink:PhenotypicFeature HP:0012412 biolink:PhenotypicFeature HP:0025451 biolink:PhenotypicFeature HP:0025486 biolink:PhenotypicFeature HP:0031273 biolink:PhenotypicFeature HP:0100779 biolink:PhenotypicFeature Orphanet:90793 biolink:Disease Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency HP:0000822 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0008258 biolink:PhenotypicFeature HP:0031074 biolink:PhenotypicFeature HP:0032330 biolink:PhenotypicFeature HP:0032362 biolink:PhenotypicFeature HP:0040171 biolink:PhenotypicFeature HP:0500022 biolink:PhenotypicFeature HP:0000026 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000138 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000858 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0003351 biolink:PhenotypicFeature HP:0004319 biolink:PhenotypicFeature HP:0008163 biolink:PhenotypicFeature HP:0008187 biolink:PhenotypicFeature HP:0008197 biolink:PhenotypicFeature HP:0008232 biolink:PhenotypicFeature HP:0008689 biolink:PhenotypicFeature HP:0011749 biolink:PhenotypicFeature HP:0011969 biolink:PhenotypicFeature HP:0031216 biolink:PhenotypicFeature HP:0000033 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000151 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002221 biolink:PhenotypicFeature HP:0002555 biolink:PhenotypicFeature HP:0003251 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature HP:0008730 biolink:PhenotypicFeature HP:0010465 biolink:PhenotypicFeature HP:0040314 biolink:PhenotypicFeature Orphanet:289494 biolink:Disease 4H leukodystrophy HP:0000044 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0006808 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0000570 biolink:PhenotypicFeature HP:0000640 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002926 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0031206 biolink:PhenotypicFeature Orphanet:99027 biolink:Disease Adult-onset autosomal dominant leukodystrophy HP:0001251 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0005341 biolink:PhenotypicFeature HP:0006827 biolink:PhenotypicFeature HP:0006958 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007366 biolink:PhenotypicFeature HP:0007377 biolink:PhenotypicFeature HP:0011931 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000012 biolink:PhenotypicFeature HP:0000016 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0000970 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001278 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002200 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0002345 biolink:PhenotypicFeature HP:0002599 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0004395 biolink:PhenotypicFeature HP:0005968 biolink:PhenotypicFeature HP:0006886 biolink:PhenotypicFeature HP:0007351 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0007369 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0007480 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature HP:0010845 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100639 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature Orphanet:2822 biolink:Disease Autosomal recessive spastic paraplegia type 11 HP:0001256 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002191 biolink:PhenotypicFeature HP:0002385 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007178 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0001152 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003445 biolink:PhenotypicFeature HP:0003482 biolink:PhenotypicFeature HP:0006913 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0007350 biolink:PhenotypicFeature HP:0030455 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000546 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001278 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0006827 biolink:PhenotypicFeature HP:0007183 biolink:PhenotypicFeature HP:0009055 biolink:PhenotypicFeature HP:0025058 biolink:PhenotypicFeature HP:0025502 biolink:PhenotypicFeature HP:0045007 biolink:PhenotypicFeature Orphanet:733 biolink:Disease Familial adenomatous polyposis HP:0003003 biolink:PhenotypicFeature HP:0005227 biolink:PhenotypicFeature HP:0007378 biolink:PhenotypicFeature HP:0007649 biolink:PhenotypicFeature HP:0100245 biolink:PhenotypicFeature HP:0200063 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0004394 biolink:PhenotypicFeature HP:0004783 biolink:PhenotypicFeature HP:0100246 biolink:PhenotypicFeature HP:0000706 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature HP:0002895 biolink:PhenotypicFeature HP:0006771 biolink:PhenotypicFeature HP:0010615 biolink:PhenotypicFeature HP:0011068 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0100631 biolink:PhenotypicFeature HP:0100717 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000853 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0002884 biolink:PhenotypicFeature HP:0002885 biolink:PhenotypicFeature HP:0002888 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature HP:0005230 biolink:PhenotypicFeature HP:0006725 biolink:PhenotypicFeature HP:0009592 biolink:PhenotypicFeature HP:0010614 biolink:PhenotypicFeature HP:0011355 biolink:PhenotypicFeature HP:0012032 biolink:PhenotypicFeature HP:0012126 biolink:PhenotypicFeature HP:0030153 biolink:PhenotypicFeature HP:0030692 biolink:PhenotypicFeature HP:0031459 biolink:PhenotypicFeature HP:0040274 biolink:PhenotypicFeature HP:0100575 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature HP:0200040 biolink:PhenotypicFeature Orphanet:1942 biolink:Disease Myoclonic-astatic epilepsy HP:0011170 biolink:PhenotypicFeature HP:0011197 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002332 biolink:PhenotypicFeature HP:0002392 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0025190 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001326 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0010845 biolink:PhenotypicFeature HP:0011171 biolink:PhenotypicFeature HP:0011182 biolink:PhenotypicFeature HP:0100851 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000289 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002292 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0100678 biolink:PhenotypicFeature HP:0200134 biolink:PhenotypicFeature HP:0011097 biolink:PhenotypicFeature Orphanet:228360 biolink:Disease CLN5 disease HP:0000505 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0007367 biolink:PhenotypicFeature HP:0007371 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002078 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0007015 biolink:PhenotypicFeature HP:0010841 biolink:PhenotypicFeature HP:0010845 biolink:PhenotypicFeature HP:0010850 biolink:PhenotypicFeature HP:0011166 biolink:PhenotypicFeature HP:0011193 biolink:PhenotypicFeature HP:0011442 biolink:PhenotypicFeature HP:0030891 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0008770 biolink:PhenotypicFeature Orphanet:98820 biolink:Disease Familial focal epilepsy with variable foci HP:0007359 biolink:PhenotypicFeature HP:0011185 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0025373 biolink:PhenotypicFeature HP:0031951 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002349 biolink:PhenotypicFeature HP:0002367 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002427 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0008765 biolink:PhenotypicFeature HP:0010841 biolink:PhenotypicFeature HP:0012005 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0031284 biolink:PhenotypicFeature HP:0032046 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0007206 biolink:PhenotypicFeature HP:0011171 biolink:PhenotypicFeature Orphanet:99949 biolink:Disease Charcot-Marie-Tooth disease type 4C HP:0001760 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003380 biolink:PhenotypicFeature HP:0003431 biolink:PhenotypicFeature HP:0003444 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001308 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001765 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0006886 biolink:PhenotypicFeature HP:0008443 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0000183 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001604 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002346 biolink:PhenotypicFeature HP:0002403 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002791 biolink:PhenotypicFeature HP:0007209 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0007695 biolink:PhenotypicFeature HP:0009916 biolink:PhenotypicFeature HP:0010871 biolink:PhenotypicFeature HP:0012473 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0007994 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature HP:0100661 biolink:PhenotypicFeature Orphanet:139399 biolink:Disease Adrenomyeloneuropathy HP:0000764 biolink:PhenotypicFeature HP:0002143 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0004359 biolink:PhenotypicFeature HP:0007199 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0030177 biolink:PhenotypicFeature HP:0031064 biolink:PhenotypicFeature HP:0040078 biolink:PhenotypicFeature HP:0000849 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002064 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0006827 biolink:PhenotypicFeature HP:0007006 biolink:PhenotypicFeature HP:0007266 biolink:PhenotypicFeature HP:0007372 biolink:PhenotypicFeature HP:0008167 biolink:PhenotypicFeature HP:0008969 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010284 biolink:PhenotypicFeature HP:0011749 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030014 biolink:PhenotypicFeature HP:0031845 biolink:PhenotypicFeature HP:0040307 biolink:PhenotypicFeature HP:0100291 biolink:PhenotypicFeature HP:0100639 biolink:PhenotypicFeature HP:0100816 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000012 biolink:PhenotypicFeature HP:0000016 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000846 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002292 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature HP:0012534 biolink:PhenotypicFeature HP:0100502 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:284388 biolink:Disease Reversible cerebral vasoconstriction syndrome HP:0025637 biolink:PhenotypicFeature HP:0030907 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002331 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002138 biolink:PhenotypicFeature HP:0002140 biolink:PhenotypicFeature HP:0002183 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0002352 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0004944 biolink:PhenotypicFeature HP:0009145 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002181 biolink:PhenotypicFeature HP:0012158 biolink:PhenotypicFeature HP:0030746 biolink:PhenotypicFeature HP:0100309 biolink:PhenotypicFeature Orphanet:284454 biolink:Disease Acute zonal occult outer retinopathy HP:0000539 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000575 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001133 biolink:PhenotypicFeature HP:0030604 biolink:PhenotypicFeature HP:0030644 biolink:PhenotypicFeature HP:0030786 biolink:PhenotypicFeature HP:0200057 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000603 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007722 biolink:PhenotypicFeature HP:0007814 biolink:PhenotypicFeature HP:0011531 biolink:PhenotypicFeature HP:0012377 biolink:PhenotypicFeature HP:0030662 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000610 biolink:PhenotypicFeature HP:0008046 biolink:PhenotypicFeature HP:0030499 biolink:PhenotypicFeature Orphanet:98818 biolink:Disease Landau-Kleffner syndrome HP:0001250 biolink:PhenotypicFeature HP:0002371 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0025373 biolink:PhenotypicFeature HP:0030391 biolink:PhenotypicFeature HP:0031491 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007086 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0011153 biolink:PhenotypicFeature HP:0011198 biolink:PhenotypicFeature HP:0012015 biolink:PhenotypicFeature HP:0012018 biolink:PhenotypicFeature HP:0025190 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0003698 biolink:PhenotypicFeature HP:0007270 biolink:PhenotypicFeature HP:0011166 biolink:PhenotypicFeature HP:0011169 biolink:PhenotypicFeature HP:0031951 biolink:PhenotypicFeature HP:0032671 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0200134 biolink:PhenotypicFeature Orphanet:261183 biolink:Disease 15q11.2 microdeletion syndrome HP:0000174 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0006891 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0010522 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002370 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002198 biolink:PhenotypicFeature HP:0005160 biolink:PhenotypicFeature Orphanet:90790 biolink:Disease Congenital lipoid adrenal hyperplasia due to STAR deficency HP:0000953 biolink:PhenotypicFeature HP:0003154 biolink:PhenotypicFeature HP:0008730 biolink:PhenotypicFeature HP:0000055 biolink:PhenotypicFeature HP:0000841 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0008163 biolink:PhenotypicFeature HP:0008221 biolink:PhenotypicFeature HP:0030347 biolink:PhenotypicFeature HP:0000037 biolink:PhenotypicFeature HP:0000053 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0012114 biolink:PhenotypicFeature HP:0040187 biolink:PhenotypicFeature Orphanet:221074 biolink:Disease Marchiafava-Bignami disease HP:0001273 biolink:PhenotypicFeature HP:0004395 biolink:PhenotypicFeature HP:0030955 biolink:PhenotypicFeature HP:0100503 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0007305 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100851 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0000746 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature HP:0002186 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002367 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002476 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0010522 biolink:PhenotypicFeature HP:0010526 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0030784 biolink:PhenotypicFeature HP:0031258 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature Orphanet:158681 biolink:Disease Epidermolysis bullosa simplex with circinate migratory erythema HP:0000953 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001036 biolink:PhenotypicFeature HP:0003341 biolink:PhenotypicFeature HP:0005585 biolink:PhenotypicFeature HP:0007513 biolink:PhenotypicFeature HP:0007585 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0031045 biolink:PhenotypicFeature HP:0031180 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature HP:0000464 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0007599 biolink:PhenotypicFeature HP:0012221 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000972 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0200097 biolink:PhenotypicFeature Orphanet:158684 biolink:Disease Epidermolysis bullosa simplex with pyloric atresia HP:0000079 biolink:PhenotypicFeature HP:0001030 biolink:PhenotypicFeature HP:0001057 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0003341 biolink:PhenotypicFeature HP:0004399 biolink:PhenotypicFeature HP:0007585 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0200097 biolink:PhenotypicFeature HP:0000070 biolink:PhenotypicFeature HP:0000075 biolink:PhenotypicFeature HP:0000096 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000795 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0003560 biolink:PhenotypicFeature HP:0004552 biolink:PhenotypicFeature HP:0007385 biolink:PhenotypicFeature HP:0007589 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0010477 biolink:PhenotypicFeature Orphanet:276435 biolink:Disease Lower motor neuron syndrome with late-adult onset HP:0009053 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003445 biolink:PhenotypicFeature HP:0003449 biolink:PhenotypicFeature HP:0003710 biolink:PhenotypicFeature HP:0008985 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0031921 biolink:PhenotypicFeature HP:0001308 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0003200 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003805 biolink:PhenotypicFeature HP:0006886 biolink:PhenotypicFeature HP:0008954 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0040132 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002483 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature Orphanet:2363 biolink:Disease Lacrimoauriculodentodigital syndrome HP:0000164 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0009926 biolink:PhenotypicFeature HP:0010286 biolink:PhenotypicFeature HP:0011297 biolink:PhenotypicFeature HP:0011481 biolink:PhenotypicFeature HP:0011482 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000378 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000410 biolink:PhenotypicFeature HP:0000495 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0001092 biolink:PhenotypicFeature HP:0001096 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0006101 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0007656 biolink:PhenotypicFeature HP:0007892 biolink:PhenotypicFeature HP:0007925 biolink:PhenotypicFeature HP:0009777 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0009942 biolink:PhenotypicFeature HP:0011496 biolink:PhenotypicFeature HP:0012155 biolink:PhenotypicFeature HP:0012804 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0032107 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000458 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000813 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0005349 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0011487 biolink:PhenotypicFeature HP:0012108 biolink:PhenotypicFeature Orphanet:221098 biolink:Disease Glossopharyngeal neuralgia HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001293 biolink:PhenotypicFeature HP:0030164 biolink:PhenotypicFeature HP:0030766 biolink:PhenotypicFeature HP:0030811 biolink:PhenotypicFeature HP:0032148 biolink:PhenotypicFeature HP:0200025 biolink:PhenotypicFeature HP:3000047 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001605 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0004395 biolink:PhenotypicFeature HP:0007099 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012534 biolink:PhenotypicFeature HP:0031005 biolink:PhenotypicFeature HP:0032043 biolink:PhenotypicFeature HP:0100008 biolink:PhenotypicFeature HP:0200136 biolink:PhenotypicFeature Orphanet:247245 biolink:Disease Superficial siderosis HP:0001251 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0009591 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0011029 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000009 biolink:PhenotypicFeature HP:0000458 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0001934 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002075 biolink:PhenotypicFeature HP:0002138 biolink:PhenotypicFeature HP:0002143 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002334 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002921 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0003698 biolink:PhenotypicFeature HP:0006827 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0007366 biolink:PhenotypicFeature HP:0009916 biolink:PhenotypicFeature HP:0010633 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature HP:0032398 biolink:PhenotypicFeature HP:0100006 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature HP:0100952 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0030321 biolink:PhenotypicFeature HP:0045052 biolink:PhenotypicFeature Orphanet:573278 biolink:Disease Split cord malformation HP:0000009 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000075 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002385 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003419 biolink:PhenotypicFeature HP:0004696 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0010781 biolink:PhenotypicFeature HP:0012514 biolink:PhenotypicFeature HP:0025480 biolink:PhenotypicFeature HP:0025488 biolink:PhenotypicFeature HP:0031283 biolink:PhenotypicFeature HP:0100711 biolink:PhenotypicFeature HP:0100712 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001026 biolink:PhenotypicFeature HP:0002144 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0003316 biolink:PhenotypicFeature HP:0005306 biolink:PhenotypicFeature HP:0005857 biolink:PhenotypicFeature HP:0009792 biolink:PhenotypicFeature HP:0010302 biolink:PhenotypicFeature HP:0012032 biolink:PhenotypicFeature HP:0030725 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0100565 biolink:PhenotypicFeature HP:0100702 biolink:PhenotypicFeature Orphanet:540 biolink:Disease Familial hemophagocytic lymphohistiocytosis HP:0001873 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0002958 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003281 biolink:PhenotypicFeature HP:0011112 biolink:PhenotypicFeature HP:0011118 biolink:PhenotypicFeature HP:0012145 biolink:PhenotypicFeature HP:0012156 biolink:PhenotypicFeature HP:0030356 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001019 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002611 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0003256 biolink:PhenotypicFeature HP:0011121 biolink:PhenotypicFeature HP:0011900 biolink:PhenotypicFeature HP:0012178 biolink:PhenotypicFeature HP:0012211 biolink:PhenotypicFeature HP:0012229 biolink:PhenotypicFeature HP:0030783 biolink:PhenotypicFeature HP:0031364 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002583 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0040186 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature Orphanet:570422 biolink:Disease Galactose mutarotase deficiency HP:0004915 biolink:PhenotypicFeature HP:0012024 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:572333 biolink:Disease Blepharophimosis-ptosis-epicanthus inversus syndrome plus HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000537 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000539 biolink:PhenotypicFeature HP:0000633 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0007656 biolink:PhenotypicFeature HP:0011481 biolink:PhenotypicFeature HP:0000013 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0007732 biolink:PhenotypicFeature HP:0007835 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0008214 biolink:PhenotypicFeature HP:0008222 biolink:PhenotypicFeature HP:0008232 biolink:PhenotypicFeature HP:0008233 biolink:PhenotypicFeature HP:0010464 biolink:PhenotypicFeature HP:0010748 biolink:PhenotypicFeature HP:0011969 biolink:PhenotypicFeature HP:0025572 biolink:PhenotypicFeature HP:0032514 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature Orphanet:2334 biolink:Disease Autosomal dominant keratitis HP:0000491 biolink:PhenotypicFeature HP:0000539 biolink:PhenotypicFeature HP:0001104 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007750 biolink:PhenotypicFeature HP:0007759 biolink:PhenotypicFeature HP:0007990 biolink:PhenotypicFeature HP:0011496 biolink:PhenotypicFeature HP:0025348 biolink:PhenotypicFeature HP:0032107 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000526 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0006934 biolink:PhenotypicFeature HP:0007633 biolink:PhenotypicFeature Orphanet:249 biolink:Disease Fibrous dysplasia of bone HP:0010734 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0003330 biolink:PhenotypicFeature HP:0009121 biolink:PhenotypicFeature HP:0040064 biolink:PhenotypicFeature HP:0000277 biolink:PhenotypicFeature HP:0000326 biolink:PhenotypicFeature HP:0002148 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002748 biolink:PhenotypicFeature HP:0002753 biolink:PhenotypicFeature HP:0002756 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0005731 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0010657 biolink:PhenotypicFeature HP:0010668 biolink:PhenotypicFeature HP:0011821 biolink:PhenotypicFeature HP:0031955 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002696 biolink:PhenotypicFeature HP:0002749 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002818 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0002997 biolink:PhenotypicFeature HP:0003063 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006316 biolink:PhenotypicFeature HP:0009911 biolink:PhenotypicFeature HP:0012294 biolink:PhenotypicFeature HP:0040163 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0100712 biolink:PhenotypicFeature HP:0430000 biolink:PhenotypicFeature HP:0430022 biolink:PhenotypicFeature HP:0000138 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000836 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0002669 biolink:PhenotypicFeature HP:0002890 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0003118 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0005605 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0010465 biolink:PhenotypicFeature HP:0010514 biolink:PhenotypicFeature HP:0010788 biolink:PhenotypicFeature HP:0030428 biolink:PhenotypicFeature HP:0100013 biolink:PhenotypicFeature Orphanet:322 biolink:Disease Exstrophy-epispadias complex HP:0000039 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0002836 biolink:PhenotypicFeature HP:0004298 biolink:PhenotypicFeature HP:0010866 biolink:PhenotypicFeature HP:0100645 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000075 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000136 biolink:PhenotypicFeature HP:0001367 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0004321 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature HP:0025489 biolink:PhenotypicFeature HP:0030014 biolink:PhenotypicFeature HP:0030261 biolink:PhenotypicFeature HP:0040307 biolink:PhenotypicFeature HP:0100599 biolink:PhenotypicFeature HP:0100600 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000069 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000290 biolink:PhenotypicFeature HP:0000315 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002025 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0010475 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature Orphanet:57 biolink:Disease Glycogen storage disease due to aldolase A deficiency HP:0001945 biolink:PhenotypicFeature HP:0012545 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0003558 biolink:PhenotypicFeature HP:0003756 biolink:PhenotypicFeature HP:0008331 biolink:PhenotypicFeature HP:0009045 biolink:PhenotypicFeature HP:0100295 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002913 biolink:PhenotypicFeature HP:0003199 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature Orphanet:239 biolink:Disease Dyggve-Melchior-Clausen disease HP:0001249 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002651 biolink:PhenotypicFeature HP:0003521 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000885 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000946 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002656 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003090 biolink:PhenotypicFeature HP:0003183 biolink:PhenotypicFeature HP:0003272 biolink:PhenotypicFeature HP:0003274 biolink:PhenotypicFeature HP:0003368 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0003690 biolink:PhenotypicFeature HP:0004568 biolink:PhenotypicFeature HP:0005106 biolink:PhenotypicFeature HP:0006429 biolink:PhenotypicFeature HP:0008786 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0031233 biolink:PhenotypicFeature HP:0040163 biolink:PhenotypicFeature HP:0100255 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001377 biolink:PhenotypicFeature HP:0001538 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003028 biolink:PhenotypicFeature HP:0003066 biolink:PhenotypicFeature HP:0003311 biolink:PhenotypicFeature HP:0003467 biolink:PhenotypicFeature HP:0003698 biolink:PhenotypicFeature HP:0004242 biolink:PhenotypicFeature HP:0006633 biolink:PhenotypicFeature HP:0031987 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature Orphanet:567548 biolink:Disease Idiopathic steroid-resistant nephrotic syndrome HP:0000093 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003119 biolink:PhenotypicFeature HP:0031265 biolink:PhenotypicFeature HP:0000097 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0012579 biolink:PhenotypicFeature HP:0100724 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0012590 biolink:PhenotypicFeature HP:0031504 biolink:PhenotypicFeature HP:0100539 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001967 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature Orphanet:1427 biolink:Disease Otospondylomegaepiphyseal dysplasia HP:0000407 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0001367 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0003498 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0040163 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0002656 biolink:PhenotypicFeature HP:0006375 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0011314 biolink:PhenotypicFeature HP:0011867 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0000162 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002834 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0002982 biolink:PhenotypicFeature HP:0003037 biolink:PhenotypicFeature HP:0003417 biolink:PhenotypicFeature HP:0009803 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010502 biolink:PhenotypicFeature HP:0100569 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0025573 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0007964 biolink:PhenotypicFeature HP:0011003 biolink:PhenotypicFeature Orphanet:1159 biolink:Disease Progressive pseudorheumatoid arthropathy of childhood HP:0000926 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002655 biolink:PhenotypicFeature HP:0003301 biolink:PhenotypicFeature HP:0004267 biolink:PhenotypicFeature HP:0005195 biolink:PhenotypicFeature HP:0001225 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001384 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0003423 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004582 biolink:PhenotypicFeature HP:0004603 biolink:PhenotypicFeature HP:0006256 biolink:PhenotypicFeature HP:0008422 biolink:PhenotypicFeature HP:0009473 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0011406 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0000464 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002867 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0003043 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003370 biolink:PhenotypicFeature HP:0003371 biolink:PhenotypicFeature HP:0004568 biolink:PhenotypicFeature HP:0006247 biolink:PhenotypicFeature HP:0006429 biolink:PhenotypicFeature HP:0008833 biolink:PhenotypicFeature HP:0010580 biolink:PhenotypicFeature HP:0025477 biolink:PhenotypicFeature HP:0040160 biolink:PhenotypicFeature HP:0100864 biolink:PhenotypicFeature HP:0002923 biolink:PhenotypicFeature HP:0025021 biolink:PhenotypicFeature HP:0032436 biolink:PhenotypicFeature Orphanet:284426 biolink:Disease Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency HP:0001787 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0003738 biolink:PhenotypicFeature HP:0008305 biolink:PhenotypicFeature HP:0008331 biolink:PhenotypicFeature HP:0009045 biolink:PhenotypicFeature HP:0011356 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0025526 biolink:PhenotypicFeature HP:0025528 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature HP:0001036 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0002046 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0007432 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0031190 biolink:PhenotypicFeature HP:0031236 biolink:PhenotypicFeature HP:0045040 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature Orphanet:566943 biolink:Disease Mueller-Weiss syndrome HP:0025238 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0005656 biolink:PhenotypicFeature HP:0010505 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0012098 biolink:PhenotypicFeature HP:0030871 biolink:PhenotypicFeature HP:0100339 biolink:PhenotypicFeature HP:0100662 biolink:PhenotypicFeature HP:0100925 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0005063 biolink:PhenotypicFeature HP:0005086 biolink:PhenotypicFeature HP:0008110 biolink:PhenotypicFeature HP:0008124 biolink:PhenotypicFeature HP:0032153 biolink:PhenotypicFeature HP:0100535 biolink:PhenotypicFeature HP:0100694 biolink:PhenotypicFeature Orphanet:567546 biolink:Disease Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance HP:0000969 biolink:PhenotypicFeature HP:0012592 biolink:PhenotypicFeature HP:0000097 biolink:PhenotypicFeature HP:0000282 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0100724 biolink:PhenotypicFeature HP:0000034 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002907 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0012393 biolink:PhenotypicFeature HP:0012579 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0004431 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0012050 biolink:PhenotypicFeature HP:0012587 biolink:PhenotypicFeature Orphanet:567544 biolink:Disease Idiopathic non-lupus full-house nephropathy HP:0000093 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0004431 biolink:PhenotypicFeature HP:0005421 biolink:PhenotypicFeature HP:0045042 biolink:PhenotypicFeature HP:0000099 biolink:PhenotypicFeature HP:0000155 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0001966 biolink:PhenotypicFeature HP:0002907 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0012576 biolink:PhenotypicFeature HP:0045073 biolink:PhenotypicFeature HP:0100769 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0002715 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0020151 biolink:PhenotypicFeature Orphanet:98849 biolink:Disease Systemic mastocytosis with associated hematologic neoplasm HP:0004377 biolink:PhenotypicFeature HP:0012324 biolink:PhenotypicFeature HP:0031901 biolink:PhenotypicFeature HP:0100494 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0001895 biolink:PhenotypicFeature HP:0001897 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0005547 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0031020 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004398 biolink:PhenotypicFeature HP:0004808 biolink:PhenotypicFeature HP:0011897 biolink:PhenotypicFeature HP:0012138 biolink:PhenotypicFeature HP:0012325 biolink:PhenotypicFeature HP:0031284 biolink:PhenotypicFeature HP:0031807 biolink:PhenotypicFeature HP:0005550 biolink:PhenotypicFeature HP:0006775 biolink:PhenotypicFeature HP:0011034 biolink:PhenotypicFeature Orphanet:98850 biolink:Disease Aggressive systemic mastocytosis HP:0100494 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0025142 biolink:PhenotypicFeature HP:0031284 biolink:PhenotypicFeature HP:0031408 biolink:PhenotypicFeature HP:0031901 biolink:PhenotypicFeature HP:0032155 biolink:PhenotypicFeature HP:0100845 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001909 biolink:PhenotypicFeature HP:0001971 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002756 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0004377 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0011121 biolink:PhenotypicFeature HP:0040186 biolink:PhenotypicFeature Orphanet:90797 biolink:Disease Partial androgen insensitivity syndrome HP:0000151 biolink:PhenotypicFeature HP:0003251 biolink:PhenotypicFeature HP:0010463 biolink:PhenotypicFeature HP:0011969 biolink:PhenotypicFeature HP:0030088 biolink:PhenotypicFeature HP:0031102 biolink:PhenotypicFeature HP:0040307 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0008689 biolink:PhenotypicFeature HP:0025132 biolink:PhenotypicFeature HP:0000027 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000051 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0008189 biolink:PhenotypicFeature HP:0008665 biolink:PhenotypicFeature HP:0009888 biolink:PhenotypicFeature HP:0025134 biolink:PhenotypicFeature HP:0025486 biolink:PhenotypicFeature HP:0040314 biolink:PhenotypicFeature HP:0100728 biolink:PhenotypicFeature HP:0100779 biolink:PhenotypicFeature Orphanet:99429 biolink:Disease Complete androgen insensitivity syndrome HP:0000008 biolink:PhenotypicFeature HP:0000098 biolink:PhenotypicFeature HP:0000151 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0003251 biolink:PhenotypicFeature HP:0008655 biolink:PhenotypicFeature HP:0008689 biolink:PhenotypicFeature HP:0008730 biolink:PhenotypicFeature HP:0011969 biolink:PhenotypicFeature HP:0012888 biolink:PhenotypicFeature HP:0025134 biolink:PhenotypicFeature HP:0030088 biolink:PhenotypicFeature HP:0040314 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0002215 biolink:PhenotypicFeature HP:0002221 biolink:PhenotypicFeature HP:0002225 biolink:PhenotypicFeature HP:0002555 biolink:PhenotypicFeature HP:0031102 biolink:PhenotypicFeature HP:0010788 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0030346 biolink:PhenotypicFeature HP:0100728 biolink:PhenotypicFeature Orphanet:564003 biolink:Disease Osteochondrosis of the metatarsal bone HP:0001369 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0005187 biolink:PhenotypicFeature HP:0005194 biolink:PhenotypicFeature HP:0010219 biolink:PhenotypicFeature HP:0010630 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0025238 biolink:PhenotypicFeature HP:0040034 biolink:PhenotypicFeature HP:0040188 biolink:PhenotypicFeature HP:0100039 biolink:PhenotypicFeature HP:0100662 biolink:PhenotypicFeature HP:0100925 biolink:PhenotypicFeature HP:0010672 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0008089 biolink:PhenotypicFeature HP:0040035 biolink:PhenotypicFeature Orphanet:565612 biolink:Disease Primary triglyceride deposit cardiomyovasculopathy HP:0001922 biolink:PhenotypicFeature HP:0003756 biolink:PhenotypicFeature HP:0009058 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0031331 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001430 biolink:PhenotypicFeature HP:0001435 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001677 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0005145 biolink:PhenotypicFeature HP:0009805 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0032141 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0003805 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0031684 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature Orphanet:226307 biolink:Disease Hypothyroidism due to deficient transcription factors involved in pituitary development or function HP:0008245 biolink:PhenotypicFeature HP:0031098 biolink:PhenotypicFeature HP:0031219 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000282 biolink:PhenotypicFeature HP:0000871 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0004491 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0005990 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0008202 biolink:PhenotypicFeature HP:0008828 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010627 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0031507 biolink:PhenotypicFeature HP:0040075 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000839 biolink:PhenotypicFeature HP:0001161 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002920 biolink:PhenotypicFeature HP:0004637 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0009381 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011755 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0025502 biolink:PhenotypicFeature HP:0030341 biolink:PhenotypicFeature HP:0030344 biolink:PhenotypicFeature HP:0031218 biolink:PhenotypicFeature HP:0011437 biolink:PhenotypicFeature HP:0025483 biolink:PhenotypicFeature Orphanet:98848 biolink:Disease Indolent systemic mastocytosis HP:0005561 biolink:PhenotypicFeature HP:0011121 biolink:PhenotypicFeature HP:0031408 biolink:PhenotypicFeature HP:0100494 biolink:PhenotypicFeature HP:0100495 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature HP:0012393 biolink:PhenotypicFeature HP:0025081 biolink:PhenotypicFeature HP:0031284 biolink:PhenotypicFeature HP:0031901 biolink:PhenotypicFeature HP:0032155 biolink:PhenotypicFeature HP:0040186 biolink:PhenotypicFeature HP:0100845 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0004377 biolink:PhenotypicFeature Orphanet:555874 biolink:Disease Congenital tricuspid valve dysplasia HP:0000961 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001667 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0010772 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0031441 biolink:PhenotypicFeature HP:0031443 biolink:PhenotypicFeature HP:0031664 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001704 biolink:PhenotypicFeature HP:0030718 biolink:PhenotypicFeature Orphanet:555905 biolink:Disease IgA pemphigus HP:0008066 biolink:PhenotypicFeature HP:0031234 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0031539 biolink:PhenotypicFeature HP:0100792 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0200097 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0003261 biolink:PhenotypicFeature HP:0025528 biolink:PhenotypicFeature HP:0031292 biolink:PhenotypicFeature HP:0032335 biolink:PhenotypicFeature HP:0100279 biolink:PhenotypicFeature Orphanet:562639 biolink:Disease Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome HP:0030057 biolink:PhenotypicFeature HP:0032220 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003237 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0011040 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100889 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0002037 biolink:PhenotypicFeature HP:0002611 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0003262 biolink:PhenotypicFeature HP:0003496 biolink:PhenotypicFeature HP:0025344 biolink:PhenotypicFeature HP:0030167 biolink:PhenotypicFeature HP:0030909 biolink:PhenotypicFeature HP:0030948 biolink:PhenotypicFeature HP:0030988 biolink:PhenotypicFeature HP:0030991 biolink:PhenotypicFeature HP:0032252 biolink:PhenotypicFeature HP:0100279 biolink:PhenotypicFeature HP:0030908 biolink:PhenotypicFeature Orphanet:563991 biolink:Disease Osteochondrosis of the tarsal bone HP:0008131 biolink:PhenotypicFeature HP:0008144 biolink:PhenotypicFeature HP:0008369 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0025238 biolink:PhenotypicFeature HP:0030840 biolink:PhenotypicFeature HP:0031051 biolink:PhenotypicFeature HP:0031955 biolink:PhenotypicFeature HP:0100662 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0010886 biolink:PhenotypicFeature HP:0100323 biolink:PhenotypicFeature Orphanet:90674 biolink:Disease Isolated thyroid-stimulating hormone deficiency HP:0005990 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature HP:0025483 biolink:PhenotypicFeature HP:0031098 biolink:PhenotypicFeature HP:0031208 biolink:PhenotypicFeature HP:0031219 biolink:PhenotypicFeature HP:0031507 biolink:PhenotypicFeature HP:0000053 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000282 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001615 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002690 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003265 biolink:PhenotypicFeature HP:0004491 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0008828 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000853 biolink:PhenotypicFeature HP:0011437 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature Orphanet:99832 biolink:Disease Resistance to thyrotropin-releasing hormone syndrome HP:0000707 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0005990 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0008202 biolink:PhenotypicFeature HP:0008245 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0025483 biolink:PhenotypicFeature HP:0025502 biolink:PhenotypicFeature HP:0031219 biolink:PhenotypicFeature HP:0031507 biolink:PhenotypicFeature HP:0032210 biolink:PhenotypicFeature HP:0000853 biolink:PhenotypicFeature HP:0002925 biolink:PhenotypicFeature HP:0011437 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature Orphanet:542643 biolink:Disease Livedoid vasculopathy HP:0003119 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0004855 biolink:PhenotypicFeature HP:0005293 biolink:PhenotypicFeature HP:0005543 biolink:PhenotypicFeature HP:0025343 biolink:PhenotypicFeature HP:0030350 biolink:PhenotypicFeature HP:0031190 biolink:PhenotypicFeature HP:0031364 biolink:PhenotypicFeature HP:0031365 biolink:PhenotypicFeature HP:0032018 biolink:PhenotypicFeature HP:0040224 biolink:PhenotypicFeature HP:0040248 biolink:PhenotypicFeature HP:0100963 biolink:PhenotypicFeature HP:0410008 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001901 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002140 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0001058 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001977 biolink:PhenotypicFeature HP:0002619 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003029 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0005339 biolink:PhenotypicFeature HP:0007572 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0012514 biolink:PhenotypicFeature HP:0025016 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100724 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001976 biolink:PhenotypicFeature HP:0002160 biolink:PhenotypicFeature HP:0012393 biolink:PhenotypicFeature HP:0100647 biolink:PhenotypicFeature Orphanet:544482 biolink:Disease Infection-related hemolytic uremic syndrome HP:0000980 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0011037 biolink:PhenotypicFeature HP:0011115 biolink:PhenotypicFeature HP:0011116 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0030783 biolink:PhenotypicFeature HP:0032155 biolink:PhenotypicFeature HP:0100282 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002102 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0005208 biolink:PhenotypicFeature HP:0012593 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0025085 biolink:PhenotypicFeature HP:0031691 biolink:PhenotypicFeature HP:0031864 biolink:PhenotypicFeature HP:0100519 biolink:PhenotypicFeature HP:0100520 biolink:PhenotypicFeature HP:0100735 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0002576 biolink:PhenotypicFeature HP:0003095 biolink:PhenotypicFeature HP:0005244 biolink:PhenotypicFeature HP:0007430 biolink:PhenotypicFeature HP:0011919 biolink:PhenotypicFeature HP:0030049 biolink:PhenotypicFeature HP:0031368 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature Orphanet:95717 biolink:Disease Idiopathic congenital hypothyroidism HP:0002925 biolink:PhenotypicFeature HP:0031507 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0004491 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0008828 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000282 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0003265 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0011437 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0031219 biolink:PhenotypicFeature HP:0031220 biolink:PhenotypicFeature Orphanet:95716 biolink:Disease Familial thyroid dyshormonogenesis HP:0012758 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000282 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0003265 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0025482 biolink:PhenotypicFeature HP:0025483 biolink:PhenotypicFeature HP:0031219 biolink:PhenotypicFeature HP:0031220 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0011437 biolink:PhenotypicFeature HP:0002925 biolink:PhenotypicFeature HP:0031507 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000851 biolink:PhenotypicFeature HP:0000853 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0004491 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0008263 biolink:PhenotypicFeature HP:0008828 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature Orphanet:90673 biolink:Disease Hypothyroidism due to TSH receptor mutations HP:0011789 biolink:PhenotypicFeature HP:0000851 biolink:PhenotypicFeature HP:0002925 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0025484 biolink:PhenotypicFeature HP:0031219 biolink:PhenotypicFeature HP:0031507 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0003265 biolink:PhenotypicFeature HP:0004491 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0005990 biolink:PhenotypicFeature HP:0008223 biolink:PhenotypicFeature HP:0008828 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0025429 biolink:PhenotypicFeature HP:0031220 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0000853 biolink:PhenotypicFeature HP:0011437 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature Orphanet:542592 biolink:Disease Necrobiosis lipoidica HP:0011123 biolink:PhenotypicFeature HP:0025528 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001030 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011990 biolink:PhenotypicFeature HP:0032217 biolink:PhenotypicFeature HP:0032252 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001965 biolink:PhenotypicFeature HP:0002973 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature Orphanet:542323 biolink:Disease CAR T cell therapy-associated cytokine release syndrome HP:0001945 biolink:PhenotypicFeature HP:0011112 biolink:PhenotypicFeature HP:0011117 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012649 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0030356 biolink:PhenotypicFeature HP:0030783 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0011037 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0012664 biolink:PhenotypicFeature HP:0012722 biolink:PhenotypicFeature HP:0030005 biolink:PhenotypicFeature HP:0100598 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature Orphanet:530838 biolink:Disease KRT1-related diffuse nonepidermolytic keratoderma HP:0007404 biolink:PhenotypicFeature HP:0007447 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001551 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012203 biolink:PhenotypicFeature HP:0001047 biolink:PhenotypicFeature HP:0001598 biolink:PhenotypicFeature HP:0004690 biolink:PhenotypicFeature HP:0006203 biolink:PhenotypicFeature HP:0007446 biolink:PhenotypicFeature HP:0025524 biolink:PhenotypicFeature HP:0032523 biolink:PhenotypicFeature HP:0032541 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature Orphanet:521219 biolink:Disease Mirizzi syndrome HP:0000952 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0011980 biolink:PhenotypicFeature HP:0040319 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0011848 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0410019 biolink:PhenotypicFeature HP:0030154 biolink:PhenotypicFeature HP:0100889 biolink:PhenotypicFeature Orphanet:505395 biolink:Disease Ventilator-induced diaphragmatic dysfunction HP:0000775 biolink:PhenotypicFeature HP:0005946 biolink:PhenotypicFeature HP:0009113 biolink:PhenotypicFeature HP:0025464 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0012496 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0011458 biolink:PhenotypicFeature HP:0012416 biolink:PhenotypicFeature HP:0032341 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0006597 biolink:PhenotypicFeature Orphanet:498359 biolink:Disease Aquagenic palmoplantar keratoderma HP:0000982 biolink:PhenotypicFeature HP:0007407 biolink:PhenotypicFeature HP:0007410 biolink:PhenotypicFeature HP:0025080 biolink:PhenotypicFeature HP:0031248 biolink:PhenotypicFeature HP:0031289 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001047 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0005425 biolink:PhenotypicFeature HP:0006261 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature Orphanet:494424 biolink:Disease Extracranial carotid artery aneurysm HP:0000464 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0002621 biolink:PhenotypicFeature HP:0031910 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001727 biolink:PhenotypicFeature HP:0001977 biolink:PhenotypicFeature HP:0002138 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002634 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0003549 biolink:PhenotypicFeature HP:0005160 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0012089 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0031690 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0005313 biolink:PhenotypicFeature HP:0032271 biolink:PhenotypicFeature Orphanet:488191 biolink:Disease Female infertility due to oocyte meiotic arrest HP:0008222 biolink:PhenotypicFeature HP:0031515 biolink:PhenotypicFeature HP:0031516 biolink:PhenotypicFeature HP:0020155 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0008669 biolink:PhenotypicFeature Orphanet:88643 biolink:Disease Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome HP:0000851 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0002583 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature Orphanet:480520 biolink:Disease Caroli syndrome HP:0003565 biolink:PhenotypicFeature HP:0030153 biolink:PhenotypicFeature HP:0032106 biolink:PhenotypicFeature HP:0100523 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0100889 biolink:PhenotypicFeature HP:0001405 biolink:PhenotypicFeature HP:0001406 biolink:PhenotypicFeature HP:0011040 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0002908 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0030151 biolink:PhenotypicFeature HP:0032545 biolink:PhenotypicFeature HP:0000113 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001971 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002040 biolink:PhenotypicFeature HP:0002248 biolink:PhenotypicFeature HP:0002249 biolink:PhenotypicFeature HP:0002612 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature Orphanet:477781 biolink:Disease Primary condylar hyperplasia HP:3000077 biolink:PhenotypicFeature HP:0000306 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0009102 biolink:PhenotypicFeature HP:0010754 biolink:PhenotypicFeature HP:0001572 biolink:PhenotypicFeature Orphanet:468726 biolink:Disease Severe primary trimethylaminuria HP:0410020 biolink:PhenotypicFeature HP:0003614 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0031467 biolink:PhenotypicFeature HP:0031469 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0008770 biolink:PhenotypicFeature HP:0011999 biolink:PhenotypicFeature Orphanet:466650 biolink:Disease Exercise-induced malignant hyperthermia HP:0000707 biolink:PhenotypicFeature HP:0002047 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0011703 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030850 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002905 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003256 biolink:PhenotypicFeature HP:0003710 biolink:PhenotypicFeature HP:0005135 biolink:PhenotypicFeature HP:0012250 biolink:PhenotypicFeature HP:0012417 biolink:PhenotypicFeature HP:0030830 biolink:PhenotypicFeature HP:0031258 biolink:PhenotypicFeature HP:0031284 biolink:PhenotypicFeature HP:0100520 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000970 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0002480 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature Orphanet:464343 biolink:Disease Catastrophic antiphospholipid syndrome HP:0003613 biolink:PhenotypicFeature HP:0001977 biolink:PhenotypicFeature HP:0001937 biolink:PhenotypicFeature HP:0002625 biolink:PhenotypicFeature HP:0002641 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0004844 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0011112 biolink:PhenotypicFeature HP:0020136 biolink:PhenotypicFeature HP:0032376 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0002638 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0025324 biolink:PhenotypicFeature HP:0025343 biolink:PhenotypicFeature HP:0031653 biolink:PhenotypicFeature HP:0100576 biolink:PhenotypicFeature HP:0100602 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0005244 biolink:PhenotypicFeature HP:0006846 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0025326 biolink:PhenotypicFeature HP:0100601 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature HP:3000042 biolink:PhenotypicFeature Orphanet:464370 biolink:Disease Neonatal alloimmune neutropenia HP:0001904 biolink:PhenotypicFeature HP:0003453 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0005968 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0032435 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:457083 biolink:Disease Isolated splenogonadal fusion HP:0000045 biolink:PhenotypicFeature HP:0012741 biolink:PhenotypicFeature HP:0032404 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000034 biolink:PhenotypicFeature HP:0001748 biolink:PhenotypicFeature HP:0008689 biolink:PhenotypicFeature HP:0009714 biolink:PhenotypicFeature HP:0010452 biolink:PhenotypicFeature HP:0000036 biolink:PhenotypicFeature HP:0000837 biolink:PhenotypicFeature HP:0006254 biolink:PhenotypicFeature HP:0045040 biolink:PhenotypicFeature Orphanet:464321 biolink:Disease Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome HP:0001873 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0011121 biolink:PhenotypicFeature HP:0012718 biolink:PhenotypicFeature HP:0025015 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0030350 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000759 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002248 biolink:PhenotypicFeature HP:0002249 biolink:PhenotypicFeature HP:0002573 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0003304 biolink:PhenotypicFeature HP:0009139 biolink:PhenotypicFeature HP:0011035 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0031368 biolink:PhenotypicFeature HP:0045039 biolink:PhenotypicFeature HP:0000573 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0003273 biolink:PhenotypicFeature HP:0007902 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010536 biolink:PhenotypicFeature HP:0025064 biolink:PhenotypicFeature HP:0025085 biolink:PhenotypicFeature HP:0025420 biolink:PhenotypicFeature HP:0031938 biolink:PhenotypicFeature HP:0040242 biolink:PhenotypicFeature Orphanet:449432 biolink:Disease IgG4-related submandibular gland disease HP:0012090 biolink:PhenotypicFeature HP:0025439 biolink:PhenotypicFeature HP:0100539 biolink:PhenotypicFeature HP:0000024 biolink:PhenotypicFeature HP:0025426 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003237 biolink:PhenotypicFeature HP:0010287 biolink:PhenotypicFeature HP:0032300 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature HP:0004431 biolink:PhenotypicFeature HP:0007734 biolink:PhenotypicFeature HP:0010286 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0031281 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000282 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature HP:0005200 biolink:PhenotypicFeature HP:0011801 biolink:PhenotypicFeature HP:0030151 biolink:PhenotypicFeature Orphanet:449563 biolink:Disease IgG4-related ophthalmic disease HP:0000315 biolink:PhenotypicFeature HP:0000620 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0007734 biolink:PhenotypicFeature HP:0010824 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0011482 biolink:PhenotypicFeature HP:0012393 biolink:PhenotypicFeature HP:0031281 biolink:PhenotypicFeature HP:0032300 biolink:PhenotypicFeature HP:0100539 biolink:PhenotypicFeature HP:3000061 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000492 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0005200 biolink:PhenotypicFeature HP:0008049 biolink:PhenotypicFeature HP:0009831 biolink:PhenotypicFeature HP:0030669 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:3000030 biolink:PhenotypicFeature HP:0000024 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000579 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0003003 biolink:PhenotypicFeature HP:0011747 biolink:PhenotypicFeature HP:0012539 biolink:PhenotypicFeature HP:0030151 biolink:PhenotypicFeature HP:0031912 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature HP:0100661 biolink:PhenotypicFeature HP:0100796 biolink:PhenotypicFeature HP:0430022 biolink:PhenotypicFeature Orphanet:85408 biolink:Disease Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis HP:0001369 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001785 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0005086 biolink:PhenotypicFeature HP:0005186 biolink:PhenotypicFeature HP:0100686 biolink:PhenotypicFeature HP:0100769 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001384 biolink:PhenotypicFeature HP:0001530 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001832 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0003043 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0008843 biolink:PhenotypicFeature HP:0010754 biolink:PhenotypicFeature HP:0011134 biolink:PhenotypicFeature HP:0011911 biolink:PhenotypicFeature HP:0040313 biolink:PhenotypicFeature HP:0001094 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature Orphanet:95715 biolink:Disease Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies HP:0011437 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002926 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0031098 biolink:PhenotypicFeature HP:0031219 biolink:PhenotypicFeature HP:0031507 biolink:PhenotypicFeature HP:0100786 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0002908 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0025379 biolink:PhenotypicFeature HP:0025483 biolink:PhenotypicFeature HP:0500011 biolink:PhenotypicFeature HP:0000853 biolink:PhenotypicFeature Orphanet:85410 biolink:Disease Oligoarticular juvenile idiopathic arthritis HP:0003493 biolink:PhenotypicFeature HP:0040313 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003028 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0005086 biolink:PhenotypicFeature HP:0030356 biolink:PhenotypicFeature HP:0030782 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000585 biolink:PhenotypicFeature HP:0001370 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007833 biolink:PhenotypicFeature HP:0008850 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature Orphanet:85438 biolink:Disease Enthesitis-related juvenile idiopathic arthritis HP:0001369 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0100686 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0001384 biolink:PhenotypicFeature HP:0003028 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0004690 biolink:PhenotypicFeature HP:0005086 biolink:PhenotypicFeature HP:0008364 biolink:PhenotypicFeature HP:0008843 biolink:PhenotypicFeature HP:0012317 biolink:PhenotypicFeature HP:0040313 biolink:PhenotypicFeature HP:0100536 biolink:PhenotypicFeature HP:0100712 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001832 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003043 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0003366 biolink:PhenotypicFeature HP:0006217 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0011842 biolink:PhenotypicFeature HP:0011911 biolink:PhenotypicFeature HP:0012122 biolink:PhenotypicFeature HP:0031090 biolink:PhenotypicFeature HP:0100711 biolink:PhenotypicFeature HP:0000794 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0006698 biolink:PhenotypicFeature Orphanet:101330 biolink:Disease Porphyria cutanea tarda HP:0012379 biolink:PhenotypicFeature HP:0030272 biolink:PhenotypicFeature HP:0003281 biolink:PhenotypicFeature HP:0012465 biolink:PhenotypicFeature HP:0031876 biolink:PhenotypicFeature HP:0032500 biolink:PhenotypicFeature HP:0030955 biolink:PhenotypicFeature HP:0200123 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0004377 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0001030 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0001058 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0005406 biolink:PhenotypicFeature HP:0031292 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0100699 biolink:PhenotypicFeature HP:0000559 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0001405 biolink:PhenotypicFeature HP:0033197 biolink:PhenotypicFeature HP:0033196 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0010473 biolink:PhenotypicFeature HP:0010472 biolink:PhenotypicFeature HP:0032999 biolink:PhenotypicFeature HP:0012217 biolink:PhenotypicFeature HP:0003452 biolink:PhenotypicFeature HP:0006562 biolink:PhenotypicFeature Orphanet:1947 biolink:Disease Progressive epilepsy-intellectual disability syndrome, Finnish type HP:0011471 biolink:PhenotypicFeature HP:0012690 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003204 biolink:PhenotypicFeature HP:0003657 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000550 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002333 biolink:PhenotypicFeature HP:0002371 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0003205 biolink:PhenotypicFeature HP:0003208 biolink:PhenotypicFeature HP:0003698 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0011198 biolink:PhenotypicFeature HP:0011203 biolink:PhenotypicFeature HP:0030455 biolink:PhenotypicFeature HP:0033044 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature Orphanet:100924 biolink:Disease Porphyria due to ALA dehydratase deficiency HP:0040322 biolink:PhenotypicFeature HP:0010472 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000711 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0031258 biolink:PhenotypicFeature HP:0007159 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0100852 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0007178 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002572 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0011121 biolink:PhenotypicFeature HP:0001271 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0005547 biolink:PhenotypicFeature HP:0012217 biolink:PhenotypicFeature HP:0012187 biolink:PhenotypicFeature HP:0033010 biolink:PhenotypicFeature HP:0030272 biolink:PhenotypicFeature HP:0003690 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0005946 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0006466 biolink:PhenotypicFeature Orphanet:95159 biolink:Disease Hepatoerythropoietic porphyria HP:0040318 biolink:PhenotypicFeature HP:0010472 biolink:PhenotypicFeature HP:0032999 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0007537 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0001030 biolink:PhenotypicFeature HP:0040320 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0012804 biolink:PhenotypicFeature HP:0100699 biolink:PhenotypicFeature HP:0030756 biolink:PhenotypicFeature HP:0001790 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0002219 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0100532 biolink:PhenotypicFeature HP:0500046 biolink:PhenotypicFeature HP:0001096 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001560 biolink:PhenotypicFeature HP:0040322 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0005406 biolink:PhenotypicFeature HP:0011457 biolink:PhenotypicFeature HP:0004552 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0012132 biolink:PhenotypicFeature Orphanet:168491 biolink:Disease Late infantile neuronal ceroid lipofuscinosis HP:0000546 biolink:PhenotypicFeature HP:0002333 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0011209 biolink:PhenotypicFeature HP:0003657 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0032794 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0030462 biolink:PhenotypicFeature HP:0011194 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0010852 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0003204 biolink:PhenotypicFeature HP:0011167 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0011147 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002371 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000744 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0008770 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0003698 biolink:PhenotypicFeature HP:0010845 biolink:PhenotypicFeature HP:0010841 biolink:PhenotypicFeature HP:0010850 biolink:PhenotypicFeature HP:0040148 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0007371 biolink:PhenotypicFeature HP:0030891 biolink:PhenotypicFeature HP:0003208 biolink:PhenotypicFeature HP:0003205 biolink:PhenotypicFeature Orphanet:79277 biolink:Disease Congenital erythropoietic porphyria HP:0007537 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0001030 biolink:PhenotypicFeature HP:0040320 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0012804 biolink:PhenotypicFeature HP:0100699 biolink:PhenotypicFeature HP:0030756 biolink:PhenotypicFeature HP:0001790 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0002219 biolink:PhenotypicFeature HP:0033009 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0011273 biolink:PhenotypicFeature HP:0004447 biolink:PhenotypicFeature HP:0001923 biolink:PhenotypicFeature HP:0020181 biolink:PhenotypicFeature HP:0008282 biolink:PhenotypicFeature HP:0500115 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0100532 biolink:PhenotypicFeature HP:0500046 biolink:PhenotypicFeature HP:0001096 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0100512 biolink:PhenotypicFeature HP:0001560 biolink:PhenotypicFeature HP:0040322 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0005406 biolink:PhenotypicFeature HP:0011457 biolink:PhenotypicFeature HP:0004552 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0012132 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0012187 biolink:PhenotypicFeature HP:0010472 biolink:PhenotypicFeature HP:0012217 biolink:PhenotypicFeature HP:0010473 biolink:PhenotypicFeature HP:0009025 biolink:PhenotypicFeature Orphanet:548 biolink:Disease Leprosy HP:0009830 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0002231 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003489 biolink:PhenotypicFeature HP:0006121 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature HP:0010835 biolink:PhenotypicFeature HP:0012181 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0012645 biolink:PhenotypicFeature HP:0020073 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0001026 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002087 biolink:PhenotypicFeature HP:0002223 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0007460 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0010827 biolink:PhenotypicFeature HP:0011334 biolink:PhenotypicFeature HP:0011457 biolink:PhenotypicFeature HP:0011821 biolink:PhenotypicFeature HP:0012155 biolink:PhenotypicFeature HP:0012185 biolink:PhenotypicFeature HP:0012500 biolink:PhenotypicFeature HP:0012804 biolink:PhenotypicFeature HP:0030003 biolink:PhenotypicFeature HP:0030351 biolink:PhenotypicFeature HP:0031005 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000834 biolink:PhenotypicFeature HP:0001101 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001743 biolink:PhenotypicFeature HP:0005561 biolink:PhenotypicFeature HP:0032404 biolink:PhenotypicFeature HP:0100583 biolink:PhenotypicFeature Orphanet:3385 biolink:Disease African trypanosomiasis HP:0000707 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0006979 biolink:PhenotypicFeature HP:0030050 biolink:PhenotypicFeature HP:0032323 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002494 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0003115 biolink:PhenotypicFeature HP:0011442 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012751 biolink:PhenotypicFeature HP:0025145 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000140 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0000847 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001101 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001345 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001709 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002304 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0002476 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007178 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature HP:0011706 biolink:PhenotypicFeature HP:0011731 biolink:PhenotypicFeature HP:0032367 biolink:PhenotypicFeature HP:0040086 biolink:PhenotypicFeature HP:0100653 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0001085 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0002196 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012486 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0025475 biolink:PhenotypicFeature HP:0031258 biolink:PhenotypicFeature Orphanet:466677 biolink:Disease Scorpion envenomation HP:0002027 biolink:PhenotypicFeature HP:0012547 biolink:PhenotypicFeature HP:0031416 biolink:PhenotypicFeature HP:0004360 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0001735 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0011710 biolink:PhenotypicFeature HP:0031546 biolink:PhenotypicFeature HP:0030149 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0031956 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0003781 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0003076 biolink:PhenotypicFeature HP:0010828 biolink:PhenotypicFeature HP:0003074 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0031185 biolink:PhenotypicFeature HP:0032232 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0410173 biolink:PhenotypicFeature HP:0002919 biolink:PhenotypicFeature HP:0000616 biolink:PhenotypicFeature HP:0005967 biolink:PhenotypicFeature HP:0011499 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0200023 biolink:PhenotypicFeature HP:0025072 biolink:PhenotypicFeature HP:0100598 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001950 biolink:PhenotypicFeature HP:0000711 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0012250 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0010872 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0006682 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature Orphanet:330050 biolink:Disease DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0012103 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0012707 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002506 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0010553 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0012569 biolink:PhenotypicFeature Orphanet:810 biolink:Disease Shigellosis HP:0001945 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0025086 biolink:PhenotypicFeature HP:0032155 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0003111 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012702 biolink:PhenotypicFeature HP:0025406 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0002590 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0025085 biolink:PhenotypicFeature HP:0025615 biolink:PhenotypicFeature HP:0031274 biolink:PhenotypicFeature HP:0100279 biolink:PhenotypicFeature HP:0100282 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0001937 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0005575 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012804 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0025059 biolink:PhenotypicFeature HP:0031368 biolink:PhenotypicFeature HP:0031864 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0500006 biolink:PhenotypicFeature Orphanet:863 biolink:Disease Trichinellosis HP:0000282 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0030953 biolink:PhenotypicFeature HP:0100539 biolink:PhenotypicFeature HP:0000211 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002921 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0005986 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature HP:0000553 biolink:PhenotypicFeature HP:0000573 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0009916 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0025342 biolink:PhenotypicFeature Orphanet:67 biolink:Disease Amoebiasis due to Entamoeba histolytica HP:0001824 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0004385 biolink:PhenotypicFeature HP:0025085 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001697 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002563 biolink:PhenotypicFeature HP:0002625 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0011919 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025044 biolink:PhenotypicFeature HP:0032016 biolink:PhenotypicFeature HP:0100282 biolink:PhenotypicFeature HP:0100523 biolink:PhenotypicFeature Orphanet:533 biolink:Disease Listeriosis HP:0001919 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0003095 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature HP:0007432 biolink:PhenotypicFeature HP:0011955 biolink:PhenotypicFeature HP:0012089 biolink:PhenotypicFeature HP:0012747 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0025059 biolink:PhenotypicFeature HP:0032162 biolink:PhenotypicFeature HP:0100523 biolink:PhenotypicFeature HP:0100584 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0010987 biolink:PhenotypicFeature HP:0011450 biolink:PhenotypicFeature HP:0011972 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0025258 biolink:PhenotypicFeature HP:0031864 biolink:PhenotypicFeature HP:0000236 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0002955 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0012330 biolink:PhenotypicFeature HP:0025615 biolink:PhenotypicFeature HP:0030049 biolink:PhenotypicFeature HP:0031179 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001082 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature Orphanet:297 biolink:Disease Tick-borne encephalitis HP:0012229 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0011112 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0020071 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000751 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001291 biolink:PhenotypicFeature HP:0001308 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002311 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003237 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0003496 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0009763 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0011392 biolink:PhenotypicFeature HP:0011450 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0025258 biolink:PhenotypicFeature HP:0031987 biolink:PhenotypicFeature HP:0032044 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:3000047 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001637 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0011441 biolink:PhenotypicFeature HP:0012486 biolink:PhenotypicFeature HP:0012747 biolink:PhenotypicFeature HP:0030196 biolink:PhenotypicFeature HP:0031003 biolink:PhenotypicFeature HP:0031258 biolink:PhenotypicFeature Orphanet:173 biolink:Disease Cholera HP:0002014 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001941 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0003111 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0011036 biolink:PhenotypicFeature HP:0011037 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0002883 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0007517 biolink:PhenotypicFeature HP:0031274 biolink:PhenotypicFeature HP:0032155 biolink:PhenotypicFeature HP:0032448 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature Orphanet:781 biolink:Disease Q fever HP:0032252 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002923 biolink:PhenotypicFeature HP:0003262 biolink:PhenotypicFeature HP:0003613 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0020136 biolink:PhenotypicFeature HP:0025015 biolink:PhenotypicFeature HP:0030166 biolink:PhenotypicFeature HP:0030167 biolink:PhenotypicFeature HP:0032101 biolink:PhenotypicFeature HP:0040186 biolink:PhenotypicFeature HP:0100584 biolink:PhenotypicFeature HP:0001082 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0005162 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0011034 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0025343 biolink:PhenotypicFeature HP:0100778 biolink:PhenotypicFeature Orphanet:2035 biolink:Disease Lymphatic filariasis HP:0001004 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0003550 biolink:PhenotypicFeature HP:0100763 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0002840 biolink:PhenotypicFeature HP:0012224 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0032061 biolink:PhenotypicFeature HP:0000034 biolink:PhenotypicFeature HP:0000045 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0002111 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0031690 biolink:PhenotypicFeature HP:0031842 biolink:PhenotypicFeature HP:0032260 biolink:PhenotypicFeature HP:0100673 biolink:PhenotypicFeature HP:0100796 biolink:PhenotypicFeature HP:0000031 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000099 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000796 biolink:PhenotypicFeature HP:0001785 biolink:PhenotypicFeature HP:0005086 biolink:PhenotypicFeature HP:0008763 biolink:PhenotypicFeature Orphanet:1163 biolink:Disease Aspergillosis HP:0012735 biolink:PhenotypicFeature HP:0020153 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0006528 biolink:PhenotypicFeature HP:0025179 biolink:PhenotypicFeature HP:0030878 biolink:PhenotypicFeature HP:0032016 biolink:PhenotypicFeature HP:0032177 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000620 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001742 biolink:PhenotypicFeature HP:0002031 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002102 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002207 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature HP:0004377 biolink:PhenotypicFeature HP:0006510 biolink:PhenotypicFeature HP:0006516 biolink:PhenotypicFeature HP:0011355 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0020103 biolink:PhenotypicFeature HP:0031417 biolink:PhenotypicFeature HP:0100326 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature HP:0000629 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002693 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0005607 biolink:PhenotypicFeature HP:0011314 biolink:PhenotypicFeature HP:0011450 biolink:PhenotypicFeature HP:0011531 biolink:PhenotypicFeature Orphanet:68 biolink:Disease Amoebiasis due to free-living amoebae HP:0000613 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000751 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002921 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0200149 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000711 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature HP:0002143 biolink:PhenotypicFeature HP:0002181 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002418 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002538 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0006897 biolink:PhenotypicFeature HP:0007011 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0007361 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0011441 biolink:PhenotypicFeature HP:0012246 biolink:PhenotypicFeature HP:0012286 biolink:PhenotypicFeature HP:0012747 biolink:PhenotypicFeature HP:0020059 biolink:PhenotypicFeature HP:0025258 biolink:PhenotypicFeature HP:0031179 biolink:PhenotypicFeature HP:0031910 biolink:PhenotypicFeature HP:0032252 biolink:PhenotypicFeature HP:0000223 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000834 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001700 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0004409 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0012804 biolink:PhenotypicFeature HP:0030953 biolink:PhenotypicFeature HP:0031731 biolink:PhenotypicFeature HP:0032162 biolink:PhenotypicFeature HP:0032620 biolink:PhenotypicFeature HP:0040197 biolink:PhenotypicFeature HP:0100583 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:244 biolink:Disease Primary ciliary dyskinesia HP:0000389 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0001742 biolink:PhenotypicFeature HP:0002257 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0003251 biolink:PhenotypicFeature HP:0005425 biolink:PhenotypicFeature HP:0011109 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0012206 biolink:PhenotypicFeature HP:0031245 biolink:PhenotypicFeature HP:0032016 biolink:PhenotypicFeature HP:0100582 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001217 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001696 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0006536 biolink:PhenotypicFeature HP:0008222 biolink:PhenotypicFeature HP:0011274 biolink:PhenotypicFeature HP:0011617 biolink:PhenotypicFeature HP:0025177 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0031456 biolink:PhenotypicFeature HP:0032543 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0001669 biolink:PhenotypicFeature HP:0001719 biolink:PhenotypicFeature HP:0001746 biolink:PhenotypicFeature HP:0001748 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0005301 biolink:PhenotypicFeature HP:0010772 biolink:PhenotypicFeature HP:0011535 biolink:PhenotypicFeature HP:0011539 biolink:PhenotypicFeature HP:0025576 biolink:PhenotypicFeature Orphanet:1304 biolink:Disease Brucellosis HP:0001392 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003095 biolink:PhenotypicFeature HP:0003237 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0025155 biolink:PhenotypicFeature HP:0025406 biolink:PhenotypicFeature HP:0000031 biolink:PhenotypicFeature HP:0000099 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001971 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0002923 biolink:PhenotypicFeature HP:0003496 biolink:PhenotypicFeature HP:0005086 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0005561 biolink:PhenotypicFeature HP:0008843 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012252 biolink:PhenotypicFeature HP:0012317 biolink:PhenotypicFeature HP:0012387 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0025245 biolink:PhenotypicFeature HP:0030350 biolink:PhenotypicFeature HP:0032252 biolink:PhenotypicFeature HP:0100326 biolink:PhenotypicFeature HP:0100523 biolink:PhenotypicFeature HP:0100796 biolink:PhenotypicFeature HP:0410008 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001646 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001894 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0004418 biolink:PhenotypicFeature HP:0012089 biolink:PhenotypicFeature HP:0012122 biolink:PhenotypicFeature HP:0012424 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0025044 biolink:PhenotypicFeature HP:0030250 biolink:PhenotypicFeature HP:0031910 biolink:PhenotypicFeature HP:0032620 biolink:PhenotypicFeature HP:0100584 biolink:PhenotypicFeature Orphanet:178320 biolink:Disease Acute lung injury HP:0002090 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0011112 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0030783 biolink:PhenotypicFeature HP:0032094 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001735 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0011118 biolink:PhenotypicFeature HP:0025420 biolink:PhenotypicFeature HP:0030955 biolink:PhenotypicFeature HP:0031273 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:70587 biolink:Disease Infant acute respiratory distress syndrome HP:0012418 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0030863 biolink:PhenotypicFeature HP:0100598 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0001695 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:74 biolink:Disease Angiostrongyliasis HP:0002315 biolink:PhenotypicFeature HP:0012229 biolink:PhenotypicFeature HP:0032061 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002587 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0011450 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0025258 biolink:PhenotypicFeature HP:0032064 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002181 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0003237 biolink:PhenotypicFeature HP:0003261 biolink:PhenotypicFeature HP:0003496 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0030833 biolink:PhenotypicFeature HP:0031179 biolink:PhenotypicFeature HP:0032336 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0100963 biolink:PhenotypicFeature Orphanet:97292 biolink:Disease Cardiogenic shock HP:0002615 biolink:PhenotypicFeature HP:0003115 biolink:PhenotypicFeature HP:0005162 biolink:PhenotypicFeature HP:0009805 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001695 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0006670 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0030830 biolink:PhenotypicFeature HP:0030848 biolink:PhenotypicFeature HP:0030851 biolink:PhenotypicFeature HP:0030876 biolink:PhenotypicFeature HP:0100520 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0012251 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature Orphanet:454836 biolink:Disease Avian influenza HP:0001945 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025439 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0025179 biolink:PhenotypicFeature HP:0031246 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0031245 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012486 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:191 biolink:Disease Cockayne syndrome HP:0003477 biolink:PhenotypicFeature HP:0004934 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0006483 biolink:PhenotypicFeature HP:0008043 biolink:PhenotypicFeature HP:0008197 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0011527 biolink:PhenotypicFeature HP:0012211 biolink:PhenotypicFeature HP:0012804 biolink:PhenotypicFeature HP:0025300 biolink:PhenotypicFeature HP:0025403 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000573 biolink:PhenotypicFeature HP:0001105 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0006349 biolink:PhenotypicFeature HP:0000253 biolink:PhenotypicFeature HP:0000408 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0007266 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001757 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002135 biolink:PhenotypicFeature HP:0002171 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002461 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002545 biolink:PhenotypicFeature HP:0002803 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0003758 biolink:PhenotypicFeature HP:0005781 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0007346 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011359 biolink:PhenotypicFeature HP:0012372 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100678 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000481 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000522 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000546 biolink:PhenotypicFeature HP:0000585 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000616 biolink:PhenotypicFeature HP:0000633 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000680 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000970 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001612 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002345 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002621 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002684 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature Orphanet:363700 biolink:Disease Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion HP:0000316 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000475 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0000997 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001833 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0009737 biolink:PhenotypicFeature HP:0011407 biolink:PhenotypicFeature HP:0012062 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0030052 biolink:PhenotypicFeature HP:0100698 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002057 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006479 biolink:PhenotypicFeature HP:0009734 biolink:PhenotypicFeature HP:0009735 biolink:PhenotypicFeature HP:0010794 biolink:PhenotypicFeature HP:0012210 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0100697 biolink:PhenotypicFeature HP:0430022 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0020035 biolink:PhenotypicFeature HP:0030426 biolink:PhenotypicFeature HP:0032252 biolink:PhenotypicFeature HP:0100008 biolink:PhenotypicFeature Orphanet:449280 biolink:Disease Scedosporiosis HP:0001945 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0032255 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0010766 biolink:PhenotypicFeature HP:0032162 biolink:PhenotypicFeature HP:0032262 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001977 biolink:PhenotypicFeature HP:0002102 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003095 biolink:PhenotypicFeature HP:0005059 biolink:PhenotypicFeature HP:0005265 biolink:PhenotypicFeature HP:0005952 biolink:PhenotypicFeature HP:0011450 biolink:PhenotypicFeature HP:0011919 biolink:PhenotypicFeature HP:0012210 biolink:PhenotypicFeature HP:0012387 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0020101 biolink:PhenotypicFeature HP:0031994 biolink:PhenotypicFeature HP:0032159 biolink:PhenotypicFeature HP:0032176 biolink:PhenotypicFeature HP:0100584 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature Orphanet:723 biolink:Disease Pneumocystosis HP:0001945 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0011949 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0020102 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0006515 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0011991 biolink:PhenotypicFeature HP:0025395 biolink:PhenotypicFeature HP:0031246 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0005948 biolink:PhenotypicFeature HP:0009098 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0031863 biolink:PhenotypicFeature HP:0032177 biolink:PhenotypicFeature Orphanet:63 biolink:Disease Alport syndrome HP:0000790 biolink:PhenotypicFeature HP:0012577 biolink:PhenotypicFeature HP:0030034 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0012574 biolink:PhenotypicFeature HP:0000092 biolink:PhenotypicFeature HP:0000097 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000123 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000495 biolink:PhenotypicFeature HP:0000794 biolink:PhenotypicFeature HP:0002907 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0004722 biolink:PhenotypicFeature HP:0005576 biolink:PhenotypicFeature HP:0011488 biolink:PhenotypicFeature HP:0011501 biolink:PhenotypicFeature HP:0012045 biolink:PhenotypicFeature HP:0012576 biolink:PhenotypicFeature HP:0025005 biolink:PhenotypicFeature HP:0032583 biolink:PhenotypicFeature HP:0000608 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002837 biolink:PhenotypicFeature HP:0004942 biolink:PhenotypicFeature HP:0006756 biolink:PhenotypicFeature HP:0007787 biolink:PhenotypicFeature HP:0008665 biolink:PhenotypicFeature HP:0010307 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0410019 biolink:PhenotypicFeature Orphanet:182 biolink:Disease Chromomycosis HP:0000989 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0003550 biolink:PhenotypicFeature HP:0012500 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0025475 biolink:PhenotypicFeature HP:0025527 biolink:PhenotypicFeature HP:0025528 biolink:PhenotypicFeature HP:0040009 biolink:PhenotypicFeature HP:0045059 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0011276 biolink:PhenotypicFeature HP:0031842 biolink:PhenotypicFeature HP:0000163 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000656 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0007606 biolink:PhenotypicFeature HP:0011334 biolink:PhenotypicFeature HP:0031013 biolink:PhenotypicFeature HP:0500043 biolink:PhenotypicFeature Orphanet:400 biolink:Disease Cystic echinococcosis HP:0001407 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002611 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0410019 biolink:PhenotypicFeature HP:0000775 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0005230 biolink:PhenotypicFeature HP:0005948 biolink:PhenotypicFeature HP:0011458 biolink:PhenotypicFeature HP:0025615 biolink:PhenotypicFeature HP:0030948 biolink:PhenotypicFeature HP:0031983 biolink:PhenotypicFeature HP:0032101 biolink:PhenotypicFeature HP:0032445 biolink:PhenotypicFeature HP:0100845 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000138 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001732 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002585 biolink:PhenotypicFeature HP:0003011 biolink:PhenotypicFeature HP:0010576 biolink:PhenotypicFeature HP:0011355 biolink:PhenotypicFeature HP:0012062 biolink:PhenotypicFeature HP:0012578 biolink:PhenotypicFeature HP:0030423 biolink:PhenotypicFeature HP:0031630 biolink:PhenotypicFeature HP:0031700 biolink:PhenotypicFeature HP:0045058 biolink:PhenotypicFeature HP:0100592 biolink:PhenotypicFeature Orphanet:3111 biolink:Disease Rotor syndrome HP:0000952 biolink:PhenotypicFeature HP:0002908 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0010473 biolink:PhenotypicFeature HP:0031811 biolink:PhenotypicFeature HP:0001046 biolink:PhenotypicFeature HP:0032106 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0031137 biolink:PhenotypicFeature Orphanet:821 biolink:Disease Sotos syndrome HP:0000098 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0012771 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004768 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0031284 biolink:PhenotypicFeature HP:0040194 biolink:PhenotypicFeature HP:0400000 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002280 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002370 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002389 biolink:PhenotypicFeature HP:0002442 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0004942 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000034 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000073 biolink:PhenotypicFeature HP:0000074 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000696 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001741 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0001998 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0003006 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0003273 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0005617 biolink:PhenotypicFeature HP:0006466 biolink:PhenotypicFeature HP:0006721 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008498 biolink:PhenotypicFeature HP:0009592 biolink:PhenotypicFeature HP:0009797 biolink:PhenotypicFeature HP:0010957 biolink:PhenotypicFeature HP:0030357 biolink:PhenotypicFeature HP:0030736 biolink:PhenotypicFeature HP:0032447 biolink:PhenotypicFeature Orphanet:287 biolink:Disease Classical Ehlers-Danlos syndrome HP:0000974 biolink:PhenotypicFeature HP:0001027 biolink:PhenotypicFeature HP:0001030 biolink:PhenotypicFeature HP:0001065 biolink:PhenotypicFeature HP:0001073 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0002761 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001058 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003771 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0000015 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000139 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000481 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0000993 biolink:PhenotypicFeature HP:0001063 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001788 biolink:PhenotypicFeature HP:0002035 biolink:PhenotypicFeature HP:0002036 biolink:PhenotypicFeature HP:0002616 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0003010 biolink:PhenotypicFeature HP:0003083 biolink:PhenotypicFeature HP:0003834 biolink:PhenotypicFeature HP:0004872 biolink:PhenotypicFeature HP:0004944 biolink:PhenotypicFeature HP:0004947 biolink:PhenotypicFeature HP:0005294 biolink:PhenotypicFeature HP:0006243 biolink:PhenotypicFeature HP:0007495 biolink:PhenotypicFeature HP:0009763 biolink:PhenotypicFeature HP:0010749 biolink:PhenotypicFeature HP:0010750 biolink:PhenotypicFeature HP:0010754 biolink:PhenotypicFeature HP:0025014 biolink:PhenotypicFeature HP:0025019 biolink:PhenotypicFeature HP:0025509 biolink:PhenotypicFeature HP:0030009 biolink:PhenotypicFeature HP:0031364 biolink:PhenotypicFeature HP:0031653 biolink:PhenotypicFeature HP:0001278 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001704 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature Orphanet:36234 biolink:Disease Bacterial toxic-shock syndrome HP:0002615 biolink:PhenotypicFeature HP:0031273 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0011799 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0100537 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000099 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003095 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0011355 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0025439 biolink:PhenotypicFeature HP:0025615 biolink:PhenotypicFeature HP:0030005 biolink:PhenotypicFeature HP:0031364 biolink:PhenotypicFeature HP:0031691 biolink:PhenotypicFeature HP:0031864 biolink:PhenotypicFeature HP:0032170 biolink:PhenotypicFeature HP:0032237 biolink:PhenotypicFeature HP:0032238 biolink:PhenotypicFeature HP:0032675 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature Orphanet:778 biolink:Disease Rett syndrome HP:0000253 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0012171 biolink:PhenotypicFeature HP:0025430 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0030217 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0001082 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003542 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0031793 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature Orphanet:273 biolink:Disease Steinert myotonic dystrophy HP:0001324 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0003740 biolink:PhenotypicFeature HP:0007787 biolink:PhenotypicFeature HP:0031546 biolink:PhenotypicFeature HP:0100284 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002494 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0005110 biolink:PhenotypicFeature HP:0006677 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0012248 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030192 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0031466 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100786 biolink:PhenotypicFeature HP:0410011 biolink:PhenotypicFeature HP:0000026 biolink:PhenotypicFeature HP:0000029 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000467 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0000867 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001349 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001575 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002234 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0002926 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0003722 biolink:PhenotypicFeature HP:0004389 biolink:PhenotypicFeature HP:0004755 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007941 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009113 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010794 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0010952 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0011999 biolink:PhenotypicFeature HP:0012899 biolink:PhenotypicFeature HP:0012901 biolink:PhenotypicFeature HP:0012903 biolink:PhenotypicFeature HP:0025169 biolink:PhenotypicFeature HP:0040171 biolink:PhenotypicFeature HP:0040173 biolink:PhenotypicFeature HP:0200136 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003003 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0003547 biolink:PhenotypicFeature HP:0003749 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0008770 biolink:PhenotypicFeature HP:0012054 biolink:PhenotypicFeature HP:0012114 biolink:PhenotypicFeature HP:0025318 biolink:PhenotypicFeature HP:0030692 biolink:PhenotypicFeature HP:0040198 biolink:PhenotypicFeature Orphanet:2912 biolink:Disease Poliomyelitis HP:0001324 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0009004 biolink:PhenotypicFeature HP:0010547 biolink:PhenotypicFeature HP:0011805 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012486 biolink:PhenotypicFeature HP:0025258 biolink:PhenotypicFeature HP:0025439 biolink:PhenotypicFeature HP:0031469 biolink:PhenotypicFeature HP:0040131 biolink:PhenotypicFeature HP:0001283 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002374 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0002385 biolink:PhenotypicFeature HP:0002483 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002590 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0030196 biolink:PhenotypicFeature HP:0030813 biolink:PhenotypicFeature HP:0031058 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0031274 biolink:PhenotypicFeature Orphanet:550 biolink:Disease MELAS HP:0000726 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002401 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003200 biolink:PhenotypicFeature HP:0008316 biolink:PhenotypicFeature HP:0012429 biolink:PhenotypicFeature HP:0012766 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002135 biolink:PhenotypicFeature HP:0002331 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007159 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010794 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000097 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000114 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000590 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000751 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001345 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001716 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0004389 biolink:PhenotypicFeature HP:0005157 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007067 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007302 biolink:PhenotypicFeature HP:0007327 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011442 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0012707 biolink:PhenotypicFeature HP:0025268 biolink:PhenotypicFeature HP:0031546 biolink:PhenotypicFeature HP:0100027 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000829 biolink:PhenotypicFeature Orphanet:31825 biolink:Disease Methanol poisoning HP:0001942 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0030955 biolink:PhenotypicFeature HP:0031982 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002453 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007146 biolink:PhenotypicFeature HP:0012128 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0002339 biolink:PhenotypicFeature HP:0004754 biolink:PhenotypicFeature HP:0005291 biolink:PhenotypicFeature HP:0031422 biolink:PhenotypicFeature HP:0100651 biolink:PhenotypicFeature Orphanet:395 biolink:Disease Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0000708 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002156 biolink:PhenotypicFeature HP:0002160 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0003286 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000725 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0003658 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001345 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001727 biolink:PhenotypicFeature HP:0001977 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002625 biolink:PhenotypicFeature HP:0006827 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008935 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature Orphanet:90068 biolink:Disease Cocaine intoxication HP:0000709 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000725 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0011499 biolink:PhenotypicFeature HP:0011999 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100754 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0005115 biolink:PhenotypicFeature HP:0006803 biolink:PhenotypicFeature HP:0008765 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025421 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0030157 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0031258 biolink:PhenotypicFeature HP:0100598 biolink:PhenotypicFeature HP:0000099 biolink:PhenotypicFeature HP:0000746 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002138 biolink:PhenotypicFeature HP:0002140 biolink:PhenotypicFeature HP:0002583 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002647 biolink:PhenotypicFeature HP:0002883 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0004308 biolink:PhenotypicFeature HP:0005244 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature HP:0006677 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0011106 biolink:PhenotypicFeature HP:0011151 biolink:PhenotypicFeature HP:0025085 biolink:PhenotypicFeature HP:0025420 biolink:PhenotypicFeature HP:0031368 biolink:PhenotypicFeature Orphanet:31826 biolink:Disease Ethylene glycol poisoning HP:0001942 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0031844 biolink:PhenotypicFeature HP:0031962 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0004885 biolink:PhenotypicFeature HP:0005110 biolink:PhenotypicFeature HP:0005263 biolink:PhenotypicFeature HP:0007695 biolink:PhenotypicFeature HP:0030955 biolink:PhenotypicFeature HP:0031273 biolink:PhenotypicFeature HP:0100598 biolink:PhenotypicFeature HP:0000124 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002181 biolink:PhenotypicFeature HP:0008682 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0011037 biolink:PhenotypicFeature HP:0030157 biolink:PhenotypicFeature HP:0031910 biolink:PhenotypicFeature Orphanet:330015 biolink:Disease Lead poisoning HP:0000822 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000124 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002715 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0005560 biolink:PhenotypicFeature HP:0005952 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0007015 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0031058 biolink:PhenotypicFeature HP:0032155 biolink:PhenotypicFeature HP:0100511 biolink:PhenotypicFeature HP:0100512 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100602 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0000140 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000798 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002270 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002843 biolink:PhenotypicFeature HP:0003141 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature HP:0003233 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0004437 biolink:PhenotypicFeature HP:0005368 biolink:PhenotypicFeature HP:0007178 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012207 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0012864 biolink:PhenotypicFeature HP:0030018 biolink:PhenotypicFeature HP:0031429 biolink:PhenotypicFeature HP:0040306 biolink:PhenotypicFeature Orphanet:324625 biolink:Disease Chikungunya HP:0001945 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0000745 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0005198 biolink:PhenotypicFeature HP:0007483 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0030834 biolink:PhenotypicFeature HP:0030839 biolink:PhenotypicFeature HP:0040186 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0000282 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0007473 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012219 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0025232 biolink:PhenotypicFeature HP:0025289 biolink:PhenotypicFeature HP:0025337 biolink:PhenotypicFeature HP:0032063 biolink:PhenotypicFeature HP:0040165 biolink:PhenotypicFeature HP:0100686 biolink:PhenotypicFeature HP:0100769 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003406 biolink:PhenotypicFeature HP:0012185 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0031002 biolink:PhenotypicFeature Orphanet:731 biolink:Disease Autosomal recessive polycystic kidney disease HP:0000105 biolink:PhenotypicFeature HP:0000113 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001405 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001971 biolink:PhenotypicFeature HP:0002040 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002612 biolink:PhenotypicFeature HP:0002630 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0004905 biolink:PhenotypicFeature HP:0005565 biolink:PhenotypicFeature HP:0006560 biolink:PhenotypicFeature HP:0011040 biolink:PhenotypicFeature HP:0011892 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012202 biolink:PhenotypicFeature HP:0030948 biolink:PhenotypicFeature HP:0100512 biolink:PhenotypicFeature HP:0100513 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002243 biolink:PhenotypicFeature HP:0002791 biolink:PhenotypicFeature HP:0002884 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0030151 biolink:PhenotypicFeature HP:0100520 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0001737 biolink:PhenotypicFeature HP:0002108 biolink:PhenotypicFeature HP:0030153 biolink:PhenotypicFeature HP:0040064 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:448237 biolink:Disease Zika virus disease HP:0000988 biolink:PhenotypicFeature HP:0040186 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002921 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003496 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001225 biolink:PhenotypicFeature HP:0001785 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0012779 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000533 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0001132 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001933 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0006906 biolink:PhenotypicFeature HP:0007131 biolink:PhenotypicFeature HP:0007401 biolink:PhenotypicFeature HP:0007766 biolink:PhenotypicFeature HP:0007814 biolink:PhenotypicFeature HP:0012486 biolink:PhenotypicFeature HP:0012795 biolink:PhenotypicFeature HP:0030825 biolink:PhenotypicFeature Orphanet:512 biolink:Disease Metachromatic leukodystrophy HP:0002607 biolink:PhenotypicFeature HP:0009763 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0030858 biolink:PhenotypicFeature HP:0031064 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature HP:0002246 biolink:PhenotypicFeature HP:0002576 biolink:PhenotypicFeature HP:0002577 biolink:PhenotypicFeature HP:0012437 biolink:PhenotypicFeature HP:0025013 biolink:PhenotypicFeature HP:0100575 biolink:PhenotypicFeature HP:0006970 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002191 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000751 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002311 biolink:PhenotypicFeature HP:0100762 biolink:PhenotypicFeature Orphanet:892 biolink:Disease Von Hippel-Lindau disease HP:0000478 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0005584 biolink:PhenotypicFeature HP:0006748 biolink:PhenotypicFeature HP:0006880 biolink:PhenotypicFeature HP:0009711 biolink:PhenotypicFeature HP:0011976 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001085 biolink:PhenotypicFeature HP:0001095 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001737 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0003334 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0005162 biolink:PhenotypicFeature HP:0005562 biolink:PhenotypicFeature HP:0008261 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0009715 biolink:PhenotypicFeature HP:0009763 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0030393 biolink:PhenotypicFeature HP:0030405 biolink:PhenotypicFeature HP:0040049 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001901 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002668 biolink:PhenotypicFeature HP:0002894 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0030424 biolink:PhenotypicFeature Orphanet:99103 biolink:Disease Atrial septal defect, ostium secundum type HP:0012382 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030718 biolink:PhenotypicFeature HP:0031664 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0004749 biolink:PhenotypicFeature HP:0004755 biolink:PhenotypicFeature HP:0005110 biolink:PhenotypicFeature HP:0005115 biolink:PhenotypicFeature HP:0005133 biolink:PhenotypicFeature HP:0005162 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0005957 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011705 biolink:PhenotypicFeature HP:0011710 biolink:PhenotypicFeature HP:0012250 biolink:PhenotypicFeature HP:0012764 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0005317 biolink:PhenotypicFeature HP:0006536 biolink:PhenotypicFeature Orphanet:485421 biolink:Disease MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect HP:0000505 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000544 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0000758 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012087 biolink:PhenotypicFeature HP:0012696 biolink:PhenotypicFeature HP:0012736 biolink:PhenotypicFeature HP:0012751 biolink:PhenotypicFeature HP:0025112 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0011097 biolink:PhenotypicFeature Orphanet:99104 biolink:Disease Atrial septal defect, coronary sinus type HP:0012382 biolink:PhenotypicFeature HP:0031297 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0010772 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0031634 biolink:PhenotypicFeature HP:0031664 biolink:PhenotypicFeature HP:0031687 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0005115 biolink:PhenotypicFeature HP:0005133 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011710 biolink:PhenotypicFeature HP:0030718 biolink:PhenotypicFeature HP:0031972 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0005317 biolink:PhenotypicFeature Orphanet:99105 biolink:Disease Atrial septal defect, sinus venosus type HP:0012382 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0010772 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0031546 biolink:PhenotypicFeature HP:0031663 biolink:PhenotypicFeature HP:0031664 biolink:PhenotypicFeature HP:0001692 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0004749 biolink:PhenotypicFeature HP:0004755 biolink:PhenotypicFeature HP:0005110 biolink:PhenotypicFeature HP:0005115 biolink:PhenotypicFeature HP:0005133 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0006699 biolink:PhenotypicFeature HP:0011700 biolink:PhenotypicFeature HP:0011705 biolink:PhenotypicFeature HP:0011712 biolink:PhenotypicFeature HP:0011716 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature HP:0006536 biolink:PhenotypicFeature Orphanet:99106 biolink:Disease Atrial septal defect, ostium primum type HP:0001653 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0004927 biolink:PhenotypicFeature HP:0005133 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0011705 biolink:PhenotypicFeature HP:0011712 biolink:PhenotypicFeature HP:0012248 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0031595 biolink:PhenotypicFeature HP:0031658 biolink:PhenotypicFeature HP:0031662 biolink:PhenotypicFeature HP:0031664 biolink:PhenotypicFeature HP:0031687 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001678 biolink:PhenotypicFeature HP:0001694 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0004749 biolink:PhenotypicFeature HP:0005110 biolink:PhenotypicFeature HP:0005952 biolink:PhenotypicFeature HP:0006536 biolink:PhenotypicFeature HP:0012398 biolink:PhenotypicFeature HP:0030718 biolink:PhenotypicFeature HP:0031295 biolink:PhenotypicFeature HP:0100759 biolink:PhenotypicFeature HP:0100760 biolink:PhenotypicFeature Orphanet:94065 biolink:Disease 15q24 microdeletion syndrome HP:0001263 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0009890 biolink:PhenotypicFeature HP:0011229 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001172 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001780 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature HP:0011100 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012810 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0030260 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature Orphanet:500166 biolink:Disease SIN3A-related intellectual disability syndrome due to a point mutation HP:0001256 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0032059 biolink:PhenotypicFeature HP:0040195 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001808 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0006989 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature Orphanet:90060 biolink:Disease Diffuse alveolar hemorrhage HP:0002113 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025179 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000152 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002923 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0003453 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0003613 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0005421 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0045042 biolink:PhenotypicFeature HP:0045050 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0006536 biolink:PhenotypicFeature HP:0025174 biolink:PhenotypicFeature HP:0030950 biolink:PhenotypicFeature Orphanet:90062 biolink:Disease Acute liver failure HP:0000952 biolink:PhenotypicFeature HP:0001404 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000846 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0001575 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0002605 biolink:PhenotypicFeature HP:0002614 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0002795 biolink:PhenotypicFeature HP:0003225 biolink:PhenotypicFeature HP:0003256 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0008169 biolink:PhenotypicFeature HP:0008321 biolink:PhenotypicFeature HP:0030977 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0001941 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001948 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002181 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002311 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002625 biolink:PhenotypicFeature HP:0002883 biolink:PhenotypicFeature HP:0007021 biolink:PhenotypicFeature HP:0012417 biolink:PhenotypicFeature HP:0031273 biolink:PhenotypicFeature HP:0031844 biolink:PhenotypicFeature Orphanet:90064 biolink:Disease Acute peripheral arterial occlusion HP:0000980 biolink:PhenotypicFeature HP:0009763 biolink:PhenotypicFeature HP:0011121 biolink:PhenotypicFeature HP:0012514 biolink:PhenotypicFeature HP:0025018 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003690 biolink:PhenotypicFeature HP:0006937 biolink:PhenotypicFeature HP:0030846 biolink:PhenotypicFeature HP:0031271 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001941 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0004755 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature Orphanet:90065 biolink:Disease Acquired aneurysmal subarachnoid hemorrhage HP:0009145 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001133 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0012250 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002140 biolink:PhenotypicFeature HP:0002344 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0003074 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0005184 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0030955 biolink:PhenotypicFeature HP:0031058 biolink:PhenotypicFeature HP:0031885 biolink:PhenotypicFeature HP:0040075 biolink:PhenotypicFeature Orphanet:399 biolink:Disease Huntington disease HP:0001268 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000734 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0000746 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002375 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0004408 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0025401 biolink:PhenotypicFeature HP:0031473 biolink:PhenotypicFeature HP:0031843 biolink:PhenotypicFeature HP:0031845 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002340 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0003107 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0010794 biolink:PhenotypicFeature HP:0030842 biolink:PhenotypicFeature HP:0030955 biolink:PhenotypicFeature HP:0031589 biolink:PhenotypicFeature HP:0040140 biolink:PhenotypicFeature HP:0045082 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0200136 biolink:PhenotypicFeature Orphanet:652 biolink:Disease Multiple endocrine neoplasia type 1 HP:0003072 biolink:PhenotypicFeature HP:0008200 biolink:PhenotypicFeature HP:0008208 biolink:PhenotypicFeature HP:0010615 biolink:PhenotypicFeature HP:0031058 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0000849 biolink:PhenotypicFeature HP:0001012 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002044 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature HP:0002894 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0004398 biolink:PhenotypicFeature HP:0005605 biolink:PhenotypicFeature HP:0006767 biolink:PhenotypicFeature HP:0040306 biolink:PhenotypicFeature HP:0100829 biolink:PhenotypicFeature HP:0500167 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000169 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0000853 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001293 biolink:PhenotypicFeature HP:0001579 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002248 biolink:PhenotypicFeature HP:0002249 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002588 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002858 biolink:PhenotypicFeature HP:0002890 biolink:PhenotypicFeature HP:0003118 biolink:PhenotypicFeature HP:0006723 biolink:PhenotypicFeature HP:0006744 biolink:PhenotypicFeature HP:0007449 biolink:PhenotypicFeature HP:0011407 biolink:PhenotypicFeature HP:0011760 biolink:PhenotypicFeature HP:0012197 biolink:PhenotypicFeature HP:0012232 biolink:PhenotypicFeature HP:0030405 biolink:PhenotypicFeature HP:0032044 biolink:PhenotypicFeature HP:0040085 biolink:PhenotypicFeature HP:0100570 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0002666 biolink:PhenotypicFeature HP:0002888 biolink:PhenotypicFeature HP:0003144 biolink:PhenotypicFeature HP:0003528 biolink:PhenotypicFeature HP:0006780 biolink:PhenotypicFeature HP:0008291 biolink:PhenotypicFeature HP:0011151 biolink:PhenotypicFeature HP:0011759 biolink:PhenotypicFeature HP:0011761 biolink:PhenotypicFeature HP:0011762 biolink:PhenotypicFeature HP:0030404 biolink:PhenotypicFeature HP:0030445 biolink:PhenotypicFeature HP:0100522 biolink:PhenotypicFeature Orphanet:637 biolink:Disease Full NF2-related schwannomatosis HP:0030430 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0002196 biolink:PhenotypicFeature HP:0002858 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007787 biolink:PhenotypicFeature HP:0009589 biolink:PhenotypicFeature HP:0009593 biolink:PhenotypicFeature HP:0010302 biolink:PhenotypicFeature HP:0100009 biolink:PhenotypicFeature HP:0100963 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001271 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002512 biolink:PhenotypicFeature HP:0002888 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0009594 biolink:PhenotypicFeature HP:0009831 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0031189 biolink:PhenotypicFeature HP:0100010 biolink:PhenotypicFeature HP:0100014 biolink:PhenotypicFeature HP:0100019 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0007968 biolink:PhenotypicFeature HP:0009592 biolink:PhenotypicFeature HP:0009733 biolink:PhenotypicFeature Orphanet:391673 biolink:Disease Necrotizing enterocolitis HP:0001622 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0012537 biolink:PhenotypicFeature HP:0025085 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001543 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001941 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0003074 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature HP:0005968 biolink:PhenotypicFeature HP:0011014 biolink:PhenotypicFeature HP:0031273 biolink:PhenotypicFeature HP:0040187 biolink:PhenotypicFeature Orphanet:411527 biolink:Disease Central retinal vein occlusion HP:0011505 biolink:PhenotypicFeature HP:0030497 biolink:PhenotypicFeature HP:0031805 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0001085 biolink:PhenotypicFeature HP:0012841 biolink:PhenotypicFeature HP:0040049 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000608 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0001129 biolink:PhenotypicFeature HP:0004328 biolink:PhenotypicFeature HP:0007984 biolink:PhenotypicFeature HP:0030666 biolink:PhenotypicFeature HP:0100014 biolink:PhenotypicFeature Orphanet:94059 biolink:Disease Uremic pruritus HP:0000958 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0003138 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0011112 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature HP:0031355 biolink:PhenotypicFeature HP:0031901 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0002918 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0008732 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0100725 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature Orphanet:528 biolink:Disease Congenital generalized lipodystrophy HP:0000855 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003712 biolink:PhenotypicFeature HP:0008887 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001015 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001833 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003247 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0008665 biolink:PhenotypicFeature HP:0011407 biolink:PhenotypicFeature HP:0012062 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature HP:0030796 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0010465 biolink:PhenotypicFeature Orphanet:2686 biolink:Disease Cyclic neutropenia HP:0000246 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0040289 biolink:PhenotypicFeature HP:0000155 biolink:PhenotypicFeature HP:0000230 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0001954 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0011110 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0025289 biolink:PhenotypicFeature HP:0025439 biolink:PhenotypicFeature HP:0030757 biolink:PhenotypicFeature HP:0032323 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0000704 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0006308 biolink:PhenotypicFeature HP:0006357 biolink:PhenotypicFeature HP:0009789 biolink:PhenotypicFeature HP:0031690 biolink:PhenotypicFeature HP:0031891 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0004387 biolink:PhenotypicFeature HP:0031864 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:306 biolink:Disease Benign familial infantile epilepsy HP:0002372 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002266 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0007334 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0011153 biolink:PhenotypicFeature HP:0011167 biolink:PhenotypicFeature HP:0011169 biolink:PhenotypicFeature HP:0040168 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0045084 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0011171 biolink:PhenotypicFeature HP:0011182 biolink:PhenotypicFeature HP:0002361 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature Orphanet:25 biolink:Disease Glutaryl-CoA dehydrogenase deficiency HP:0002134 biolink:PhenotypicFeature HP:0003150 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001334 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002275 biolink:PhenotypicFeature HP:0002305 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002339 biolink:PhenotypicFeature HP:0004481 biolink:PhenotypicFeature HP:0007132 biolink:PhenotypicFeature HP:0009716 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012704 biolink:PhenotypicFeature HP:0012753 biolink:PhenotypicFeature HP:0031982 biolink:PhenotypicFeature HP:0040194 biolink:PhenotypicFeature HP:0100954 biolink:PhenotypicFeature HP:0000573 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0003162 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0006829 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0100309 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature Orphanet:3095 biolink:Disease Atypical Rett syndrome HP:0000713 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000817 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002371 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012171 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0000723 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002186 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002876 biolink:PhenotypicFeature HP:0002882 biolink:PhenotypicFeature HP:0003808 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012719 biolink:PhenotypicFeature HP:0032588 biolink:PhenotypicFeature HP:0045084 biolink:PhenotypicFeature HP:0100703 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000748 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0007281 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0025269 biolink:PhenotypicFeature HP:0025387 biolink:PhenotypicFeature HP:0030215 biolink:PhenotypicFeature HP:0007824 biolink:PhenotypicFeature Orphanet:1856 biolink:Disease Spondyloperipheral dysplasia-short ulna syndrome HP:0000175 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0001384 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0003071 biolink:PhenotypicFeature HP:0003498 biolink:PhenotypicFeature HP:0005106 biolink:PhenotypicFeature HP:0005863 biolink:PhenotypicFeature HP:0008788 biolink:PhenotypicFeature HP:0010582 biolink:PhenotypicFeature HP:0045060 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001377 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0003300 biolink:PhenotypicFeature HP:0003365 biolink:PhenotypicFeature HP:0008812 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0010743 biolink:PhenotypicFeature Orphanet:2909 biolink:Disease Rothmund-Thomson syndrome HP:0000988 biolink:PhenotypicFeature HP:0001029 biolink:PhenotypicFeature HP:0025300 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000653 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0007556 biolink:PhenotypicFeature HP:0007588 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0010765 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0000282 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000685 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001118 biolink:PhenotypicFeature HP:0001592 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0001871 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0003993 biolink:PhenotypicFeature HP:0006498 biolink:PhenotypicFeature HP:0006501 biolink:PhenotypicFeature HP:0008065 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0031367 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0100671 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001909 biolink:PhenotypicFeature HP:0001915 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0003761 biolink:PhenotypicFeature HP:0007418 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0200044 biolink:PhenotypicFeature Orphanet:750 biolink:Disease Pseudoachondroplasia HP:0001388 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002663 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002761 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0003016 biolink:PhenotypicFeature HP:0003025 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0005720 biolink:PhenotypicFeature HP:0006149 biolink:PhenotypicFeature HP:0009803 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0010582 biolink:PhenotypicFeature HP:0020152 biolink:PhenotypicFeature HP:0045086 biolink:PhenotypicFeature HP:0100531 biolink:PhenotypicFeature HP:0001377 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0003015 biolink:PhenotypicFeature HP:0003090 biolink:PhenotypicFeature HP:0003093 biolink:PhenotypicFeature HP:0003180 biolink:PhenotypicFeature HP:0003756 biolink:PhenotypicFeature HP:0004236 biolink:PhenotypicFeature HP:0004568 biolink:PhenotypicFeature HP:0006460 biolink:PhenotypicFeature HP:0006499 biolink:PhenotypicFeature HP:0008807 biolink:PhenotypicFeature HP:0008833 biolink:PhenotypicFeature HP:0008839 biolink:PhenotypicFeature HP:0009107 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature HP:0010585 biolink:PhenotypicFeature HP:0100864 biolink:PhenotypicFeature HP:0003311 biolink:PhenotypicFeature HP:0010646 biolink:PhenotypicFeature Orphanet:740 biolink:Disease Hutchinson-Gilford progeria syndrome HP:0000160 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0001525 biolink:PhenotypicFeature HP:0001544 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0007394 biolink:PhenotypicFeature HP:0007485 biolink:PhenotypicFeature HP:0008647 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature HP:0100678 biolink:PhenotypicFeature HP:0000050 biolink:PhenotypicFeature HP:0000134 biolink:PhenotypicFeature HP:0000200 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000418 biolink:PhenotypicFeature HP:0000436 biolink:PhenotypicFeature HP:0000586 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001620 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0001646 biolink:PhenotypicFeature HP:0001810 biolink:PhenotypicFeature HP:0002232 biolink:PhenotypicFeature HP:0002362 biolink:PhenotypicFeature HP:0002621 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0003292 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0005461 biolink:PhenotypicFeature HP:0007418 biolink:PhenotypicFeature HP:0008391 biolink:PhenotypicFeature HP:0008573 biolink:PhenotypicFeature HP:0010296 biolink:PhenotypicFeature HP:0011832 biolink:PhenotypicFeature HP:0012569 biolink:PhenotypicFeature HP:0025168 biolink:PhenotypicFeature HP:0100679 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000894 biolink:PhenotypicFeature HP:0000905 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001714 biolink:PhenotypicFeature HP:0001718 biolink:PhenotypicFeature HP:0001757 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002223 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002781 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0004380 biolink:PhenotypicFeature HP:0004382 biolink:PhenotypicFeature HP:0006248 biolink:PhenotypicFeature HP:0006335 biolink:PhenotypicFeature HP:0006467 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0008800 biolink:PhenotypicFeature HP:0009839 biolink:PhenotypicFeature HP:0009904 biolink:PhenotypicFeature HP:0010505 biolink:PhenotypicFeature HP:0010766 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0011079 biolink:PhenotypicFeature HP:0011457 biolink:PhenotypicFeature HP:0012474 biolink:PhenotypicFeature HP:0030002 biolink:PhenotypicFeature HP:0030838 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0012804 biolink:PhenotypicFeature HP:0025169 biolink:PhenotypicFeature Orphanet:220386 biolink:Disease Semilobar holoprosencephaly HP:0000478 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000161 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002270 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0002871 biolink:PhenotypicFeature HP:0005968 biolink:PhenotypicFeature HP:0006528 biolink:PhenotypicFeature HP:0006979 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007301 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010654 biolink:PhenotypicFeature HP:0011442 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0012285 biolink:PhenotypicFeature HP:0040327 biolink:PhenotypicFeature HP:0045005 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000871 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0006315 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0009914 biolink:PhenotypicFeature HP:0009932 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0011787 biolink:PhenotypicFeature HP:0012718 biolink:PhenotypicFeature HP:0012806 biolink:PhenotypicFeature HP:0031860 biolink:PhenotypicFeature HP:0040064 biolink:PhenotypicFeature Orphanet:353281 biolink:Disease Rubinstein-Taybi syndrome due to 16p13.3 microdeletion HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0000756 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001575 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0007086 biolink:PhenotypicFeature HP:0009765 biolink:PhenotypicFeature HP:0009834 biolink:PhenotypicFeature HP:0009836 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0011087 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0025269 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0100852 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000539 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000932 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0005743 biolink:PhenotypicFeature HP:0010562 biolink:PhenotypicFeature HP:0010674 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0031546 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000695 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002341 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002858 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0005363 biolink:PhenotypicFeature HP:0005374 biolink:PhenotypicFeature HP:0010302 biolink:PhenotypicFeature HP:0010775 biolink:PhenotypicFeature HP:0030434 biolink:PhenotypicFeature Orphanet:353284 biolink:Disease Rubinstein-Taybi syndrome due to EP300 haploinsufficiency HP:0000218 biolink:PhenotypicFeature HP:0000273 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0005322 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0006200 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0000756 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001575 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007086 biolink:PhenotypicFeature HP:0008752 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009765 biolink:PhenotypicFeature HP:0009834 biolink:PhenotypicFeature HP:0009836 biolink:PhenotypicFeature HP:0011087 biolink:PhenotypicFeature HP:0025269 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0100852 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000034 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000559 biolink:PhenotypicFeature HP:0000579 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000932 biolink:PhenotypicFeature HP:0001128 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002835 biolink:PhenotypicFeature HP:0002858 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0005743 biolink:PhenotypicFeature HP:0007099 biolink:PhenotypicFeature HP:0010051 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature HP:0010674 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0030047 biolink:PhenotypicFeature HP:0031251 biolink:PhenotypicFeature HP:0031546 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000695 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002341 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0005363 biolink:PhenotypicFeature HP:0005374 biolink:PhenotypicFeature HP:0010562 biolink:PhenotypicFeature HP:0010775 biolink:PhenotypicFeature HP:0030434 biolink:PhenotypicFeature Orphanet:93926 biolink:Disease Midline interhemispheric variant of holoprosencephaly HP:0000478 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000161 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002270 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0002871 biolink:PhenotypicFeature HP:0005968 biolink:PhenotypicFeature HP:0006528 biolink:PhenotypicFeature HP:0006979 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007301 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010654 biolink:PhenotypicFeature HP:0011442 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0012285 biolink:PhenotypicFeature HP:0040327 biolink:PhenotypicFeature HP:0045005 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000871 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0006315 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0009914 biolink:PhenotypicFeature HP:0009932 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0011787 biolink:PhenotypicFeature HP:0012718 biolink:PhenotypicFeature HP:0012806 biolink:PhenotypicFeature HP:0031860 biolink:PhenotypicFeature HP:0040064 biolink:PhenotypicFeature Orphanet:93925 biolink:Disease Alobar holoprosencephaly HP:0000478 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000161 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002270 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0002871 biolink:PhenotypicFeature HP:0005968 biolink:PhenotypicFeature HP:0006528 biolink:PhenotypicFeature HP:0006979 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007301 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010654 biolink:PhenotypicFeature HP:0011442 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0012285 biolink:PhenotypicFeature HP:0040327 biolink:PhenotypicFeature HP:0045005 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000871 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0006315 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0009914 biolink:PhenotypicFeature HP:0009932 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0011787 biolink:PhenotypicFeature HP:0012718 biolink:PhenotypicFeature HP:0012806 biolink:PhenotypicFeature HP:0031860 biolink:PhenotypicFeature HP:0040064 biolink:PhenotypicFeature Orphanet:93924 biolink:Disease Lobar holoprosencephaly HP:0000601 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000161 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002270 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006528 biolink:PhenotypicFeature HP:0006979 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0011442 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0012285 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000871 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002871 biolink:PhenotypicFeature HP:0005968 biolink:PhenotypicFeature HP:0007301 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0010654 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0011787 biolink:PhenotypicFeature HP:0012718 biolink:PhenotypicFeature HP:0031860 biolink:PhenotypicFeature HP:0040064 biolink:PhenotypicFeature HP:0040327 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0006315 biolink:PhenotypicFeature HP:0009914 biolink:PhenotypicFeature HP:0009932 biolink:PhenotypicFeature HP:0012806 biolink:PhenotypicFeature HP:0045005 biolink:PhenotypicFeature Orphanet:353277 biolink:Disease Rubinstein-Taybi syndrome due to CREBBP mutations HP:0000218 biolink:PhenotypicFeature HP:0000273 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0005322 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0006200 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0000756 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001575 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007086 biolink:PhenotypicFeature HP:0008752 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009765 biolink:PhenotypicFeature HP:0009834 biolink:PhenotypicFeature HP:0009836 biolink:PhenotypicFeature HP:0011087 biolink:PhenotypicFeature HP:0025269 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0100852 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000034 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000559 biolink:PhenotypicFeature HP:0000579 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000932 biolink:PhenotypicFeature HP:0001128 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002835 biolink:PhenotypicFeature HP:0002858 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0005743 biolink:PhenotypicFeature HP:0007099 biolink:PhenotypicFeature HP:0010051 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature HP:0010674 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0030047 biolink:PhenotypicFeature HP:0031251 biolink:PhenotypicFeature HP:0031546 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000695 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002341 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0005363 biolink:PhenotypicFeature HP:0005374 biolink:PhenotypicFeature HP:0010562 biolink:PhenotypicFeature HP:0010775 biolink:PhenotypicFeature HP:0030434 biolink:PhenotypicFeature Orphanet:811 biolink:Disease Shwachman-Diamond syndrome HP:0000924 biolink:PhenotypicFeature HP:0001738 biolink:PhenotypicFeature HP:0001871 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002630 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001897 biolink:PhenotypicFeature HP:0001972 biolink:PhenotypicFeature HP:0002570 biolink:PhenotypicFeature HP:0002594 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004395 biolink:PhenotypicFeature HP:0004905 biolink:PhenotypicFeature HP:0005518 biolink:PhenotypicFeature HP:0011892 biolink:PhenotypicFeature HP:0012202 biolink:PhenotypicFeature HP:0040238 biolink:PhenotypicFeature HP:0100512 biolink:PhenotypicFeature HP:0100513 biolink:PhenotypicFeature HP:0410252 biolink:PhenotypicFeature HP:0410255 biolink:PhenotypicFeature HP:0410289 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000886 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001367 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001909 biolink:PhenotypicFeature HP:0001915 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0002953 biolink:PhenotypicFeature HP:0003016 biolink:PhenotypicFeature HP:0003025 biolink:PhenotypicFeature HP:0004429 biolink:PhenotypicFeature HP:0004808 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0005871 biolink:PhenotypicFeature HP:0045027 biolink:PhenotypicFeature HP:0000155 biolink:PhenotypicFeature HP:0000356 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0006461 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0040075 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:49382 biolink:Disease Achromatopsia HP:0000539 biolink:PhenotypicFeature HP:0000551 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0007803 biolink:PhenotypicFeature HP:0012043 biolink:PhenotypicFeature HP:0030465 biolink:PhenotypicFeature HP:0030584 biolink:PhenotypicFeature HP:0030620 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000603 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007750 biolink:PhenotypicFeature HP:0030825 biolink:PhenotypicFeature HP:0001103 biolink:PhenotypicFeature HP:0007695 biolink:PhenotypicFeature HP:0007814 biolink:PhenotypicFeature HP:0007843 biolink:PhenotypicFeature HP:0025549 biolink:PhenotypicFeature HP:0007722 biolink:PhenotypicFeature Orphanet:79273 biolink:Disease Hereditary coproporphyria HP:0002027 biolink:PhenotypicFeature HP:0003163 biolink:PhenotypicFeature HP:0010472 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002572 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0009763 biolink:PhenotypicFeature HP:0010473 biolink:PhenotypicFeature HP:0011121 biolink:PhenotypicFeature HP:0012217 biolink:PhenotypicFeature HP:0040319 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001030 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0005325 biolink:PhenotypicFeature HP:0007178 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008528 biolink:PhenotypicFeature HP:0009937 biolink:PhenotypicFeature HP:0012850 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature Orphanet:438213 biolink:Disease PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome HP:0001249 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010862 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000549 biolink:PhenotypicFeature HP:0000977 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002267 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002791 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0005957 biolink:PhenotypicFeature HP:0010536 biolink:PhenotypicFeature HP:0010863 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012171 biolink:PhenotypicFeature HP:0100247 biolink:PhenotypicFeature HP:0100512 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002058 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007193 biolink:PhenotypicFeature HP:0007655 biolink:PhenotypicFeature HP:0007874 biolink:PhenotypicFeature HP:0009890 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0011097 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012704 biolink:PhenotypicFeature HP:0025313 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0031622 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000139 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001331 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0011747 biolink:PhenotypicFeature HP:0031253 biolink:PhenotypicFeature HP:0040303 biolink:PhenotypicFeature Orphanet:31709 biolink:Disease Infantile convulsions and choreoathetosis HP:0002372 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002305 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0007166 biolink:PhenotypicFeature HP:0040168 biolink:PhenotypicFeature HP:0011172 biolink:PhenotypicFeature HP:0012002 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature Orphanet:261552 biolink:Disease Mowat-Wilson syndrome due to a ZEB2 point mutation HP:0000003 biolink:PhenotypicFeature HP:0000075 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000125 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000480 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000539 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000615 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000692 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000932 biolink:PhenotypicFeature HP:0001089 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001492 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001641 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001746 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0001847 biolink:PhenotypicFeature HP:0001848 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002572 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003763 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004414 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0007048 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0009487 biolink:PhenotypicFeature HP:0009918 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0010511 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0012430 biolink:PhenotypicFeature HP:0030791 biolink:PhenotypicFeature HP:0040331 biolink:PhenotypicFeature HP:0000034 biolink:PhenotypicFeature HP:0000041 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001153 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002335 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002553 biolink:PhenotypicFeature HP:0002777 biolink:PhenotypicFeature HP:0004961 biolink:PhenotypicFeature HP:0005580 biolink:PhenotypicFeature HP:0007099 biolink:PhenotypicFeature HP:0007165 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002474 biolink:PhenotypicFeature HP:0040082 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000437 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0007270 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0009765 biolink:PhenotypicFeature HP:0009909 biolink:PhenotypicFeature HP:0011229 biolink:PhenotypicFeature HP:0025100 biolink:PhenotypicFeature HP:0030303 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0011120 biolink:PhenotypicFeature HP:0011317 biolink:PhenotypicFeature HP:0011886 biolink:PhenotypicFeature HP:0012081 biolink:PhenotypicFeature HP:0030264 biolink:PhenotypicFeature HP:0410005 biolink:PhenotypicFeature HP:0410031 biolink:PhenotypicFeature Orphanet:363741 biolink:Disease Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome HP:0000135 biolink:PhenotypicFeature HP:0000480 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature HP:0100702 biolink:PhenotypicFeature Orphanet:261537 biolink:Disease Mowat-Wilson syndrome due to monosomy 2q22 HP:0000179 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0001847 biolink:PhenotypicFeature HP:0001848 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002572 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003763 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004414 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0007048 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0009487 biolink:PhenotypicFeature HP:0010055 biolink:PhenotypicFeature HP:0010511 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0012430 biolink:PhenotypicFeature HP:0040331 biolink:PhenotypicFeature HP:0000034 biolink:PhenotypicFeature HP:0000041 biolink:PhenotypicFeature HP:0000048 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001153 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002335 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002777 biolink:PhenotypicFeature HP:0004961 biolink:PhenotypicFeature HP:0007099 biolink:PhenotypicFeature HP:0007165 biolink:PhenotypicFeature HP:0011317 biolink:PhenotypicFeature HP:0012081 biolink:PhenotypicFeature HP:0030264 biolink:PhenotypicFeature HP:0410005 biolink:PhenotypicFeature HP:0410031 biolink:PhenotypicFeature HP:0000437 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0007270 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0009765 biolink:PhenotypicFeature HP:0009909 biolink:PhenotypicFeature HP:0011229 biolink:PhenotypicFeature HP:0025100 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0000003 biolink:PhenotypicFeature HP:0000075 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000125 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000480 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000692 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000932 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001492 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001641 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001746 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002474 biolink:PhenotypicFeature HP:0040082 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature Orphanet:280195 biolink:Disease Septopreoptic holoprosencephaly HP:0000736 biolink:PhenotypicFeature HP:0000772 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000830 biolink:PhenotypicFeature HP:0000863 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002418 biolink:PhenotypicFeature HP:0002474 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001355 biolink:PhenotypicFeature HP:0001545 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0004478 biolink:PhenotypicFeature HP:0007375 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0012110 biolink:PhenotypicFeature HP:0012650 biolink:PhenotypicFeature HP:0031913 biolink:PhenotypicFeature Orphanet:280679 biolink:Disease Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome HP:0011834 biolink:PhenotypicFeature HP:0000027 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002140 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0007970 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000454 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001677 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature Orphanet:398069 biolink:Disease MAGEL2-related Prader-Willi-like syndrome HP:0000028 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000060 biolink:PhenotypicFeature HP:0000064 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001612 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004324 biolink:PhenotypicFeature HP:0005968 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature HP:0008197 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0012166 biolink:PhenotypicFeature HP:0012287 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0012506 biolink:PhenotypicFeature HP:0012743 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002494 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007874 biolink:PhenotypicFeature HP:0010536 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature HP:0011787 biolink:PhenotypicFeature HP:0012411 biolink:PhenotypicFeature HP:0025237 biolink:PhenotypicFeature HP:0040030 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature Orphanet:557003 biolink:Disease Oculoskeletodental syndrome HP:0004322 biolink:PhenotypicFeature HP:0011020 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002942 biolink:PhenotypicFeature HP:0003090 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0006989 biolink:PhenotypicFeature HP:0007042 biolink:PhenotypicFeature HP:0009237 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature HP:0010663 biolink:PhenotypicFeature HP:0010761 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0100255 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000599 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature Orphanet:221139 biolink:Disease Combined immunodeficiency with faciooculoskeletal anomalies HP:0000010 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000306 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002058 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002100 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002403 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0002841 biolink:PhenotypicFeature HP:0002850 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0003460 biolink:PhenotypicFeature HP:0003765 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004429 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005387 biolink:PhenotypicFeature HP:0005407 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007678 biolink:PhenotypicFeature HP:0009098 biolink:PhenotypicFeature HP:0009650 biolink:PhenotypicFeature HP:0009844 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0010282 biolink:PhenotypicFeature HP:0010579 biolink:PhenotypicFeature HP:0010750 biolink:PhenotypicFeature HP:0010976 biolink:PhenotypicFeature HP:0025540 biolink:PhenotypicFeature HP:0031014 biolink:PhenotypicFeature HP:0031381 biolink:PhenotypicFeature HP:0031382 biolink:PhenotypicFeature HP:0032132 biolink:PhenotypicFeature HP:0032140 biolink:PhenotypicFeature HP:0040022 biolink:PhenotypicFeature HP:0040024 biolink:PhenotypicFeature HP:0040025 biolink:PhenotypicFeature HP:0040218 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0410018 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0004425 biolink:PhenotypicFeature Orphanet:544503 biolink:Disease RNF13-related severe early-onset epileptic encephalopathy HP:0000023 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000711 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0010845 biolink:PhenotypicFeature HP:0011185 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0025373 biolink:PhenotypicFeature HP:0025405 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0200134 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0005072 biolink:PhenotypicFeature HP:0006070 biolink:PhenotypicFeature HP:0006094 biolink:PhenotypicFeature HP:0007514 biolink:PhenotypicFeature HP:0011432 biolink:PhenotypicFeature HP:0012098 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0040126 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:556955 biolink:Disease Pancreatic agenesis-holoprosencephaly syndrome HP:0000857 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0011467 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0030795 biolink:PhenotypicFeature HP:0031209 biolink:PhenotypicFeature HP:0100801 biolink:PhenotypicFeature HP:0410289 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0002507 biolink:PhenotypicFeature HP:0006315 biolink:PhenotypicFeature HP:0009658 biolink:PhenotypicFeature HP:0010669 biolink:PhenotypicFeature HP:0010938 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature Orphanet:79404 biolink:Disease Severe generalized junctional epidermolysis bullosa HP:0001030 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0011830 biolink:PhenotypicFeature HP:0020117 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0001211 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001798 biolink:PhenotypicFeature HP:0001818 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0004395 biolink:PhenotypicFeature HP:0010307 biolink:PhenotypicFeature HP:0031446 biolink:PhenotypicFeature HP:0000003 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000014 biolink:PhenotypicFeature HP:0000016 biolink:PhenotypicFeature HP:0000070 biolink:PhenotypicFeature HP:0000072 biolink:PhenotypicFeature HP:0000081 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000481 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001057 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001602 biolink:PhenotypicFeature HP:0001615 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001955 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002043 biolink:PhenotypicFeature HP:0002087 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003111 biolink:PhenotypicFeature HP:0004057 biolink:PhenotypicFeature HP:0004386 biolink:PhenotypicFeature HP:0006000 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0008682 biolink:PhenotypicFeature HP:0010476 biolink:PhenotypicFeature HP:0012227 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0000999 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature Orphanet:456312 biolink:Disease Infantile multisystem neurologic-endocrine-pancreatic disease HP:0000407 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001738 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000309 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001530 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001771 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0100307 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature HP:0000049 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001772 biolink:PhenotypicFeature HP:0001844 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003431 biolink:PhenotypicFeature HP:0003448 biolink:PhenotypicFeature HP:0006276 biolink:PhenotypicFeature HP:0008366 biolink:PhenotypicFeature HP:0009463 biolink:PhenotypicFeature HP:0009464 biolink:PhenotypicFeature HP:0009473 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0030146 biolink:PhenotypicFeature HP:0030951 biolink:PhenotypicFeature HP:0100800 biolink:PhenotypicFeature Orphanet:562 biolink:Disease McCune-Albright syndrome HP:0000138 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0005605 biolink:PhenotypicFeature HP:0031072 biolink:PhenotypicFeature HP:0000035 biolink:PhenotypicFeature HP:0000053 biolink:PhenotypicFeature HP:0000124 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature HP:0000836 biolink:PhenotypicFeature HP:0001507 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002693 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0010734 biolink:PhenotypicFeature HP:0010736 biolink:PhenotypicFeature HP:0011821 biolink:PhenotypicFeature HP:0030088 biolink:PhenotypicFeature HP:0000117 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0000853 biolink:PhenotypicFeature HP:0000858 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001742 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002749 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0006719 biolink:PhenotypicFeature HP:0008768 biolink:PhenotypicFeature HP:0010735 biolink:PhenotypicFeature HP:0010791 biolink:PhenotypicFeature HP:0012028 biolink:PhenotypicFeature HP:0020110 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0001579 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0002148 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0003109 biolink:PhenotypicFeature HP:0003118 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0012063 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0030428 biolink:PhenotypicFeature Orphanet:124 biolink:Disease Blackfan-Diamond anemia HP:0012410 biolink:PhenotypicFeature HP:0030270 biolink:PhenotypicFeature HP:0000234 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001896 biolink:PhenotypicFeature HP:0005518 biolink:PhenotypicFeature HP:0005532 biolink:PhenotypicFeature HP:0011904 biolink:PhenotypicFeature HP:0012133 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000104 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000185 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0001199 biolink:PhenotypicFeature HP:0001227 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001895 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009777 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0009944 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0020118 biolink:PhenotypicFeature HP:0410030 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0001087 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001790 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001894 biolink:PhenotypicFeature HP:0002669 biolink:PhenotypicFeature HP:0004808 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006758 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0040276 biolink:PhenotypicFeature Orphanet:228302 biolink:Disease Carnitine palmitoyl transferase II deficiency, myopathic form HP:0040320 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0003455 biolink:PhenotypicFeature HP:0045045 biolink:PhenotypicFeature HP:0100295 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003449 biolink:PhenotypicFeature HP:0003710 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0008682 biolink:PhenotypicFeature HP:0009058 biolink:PhenotypicFeature HP:0011964 biolink:PhenotypicFeature HP:0002913 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0003738 biolink:PhenotypicFeature HP:0012380 biolink:PhenotypicFeature Orphanet:167 biolink:Disease Chédiak-Higashi syndrome HP:0001010 biolink:PhenotypicFeature HP:0001881 biolink:PhenotypicFeature HP:0001922 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0012145 biolink:PhenotypicFeature HP:0012156 biolink:PhenotypicFeature HP:0031408 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000704 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001583 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0003281 biolink:PhenotypicFeature HP:0004527 biolink:PhenotypicFeature HP:0005406 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007499 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0011869 biolink:PhenotypicFeature HP:0011990 biolink:PhenotypicFeature HP:0012176 biolink:PhenotypicFeature HP:0020096 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003075 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0006308 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0006827 biolink:PhenotypicFeature HP:0007178 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011900 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0005585 biolink:PhenotypicFeature Orphanet:228308 biolink:Disease Carnitine palmitoyl transferase II deficiency, neonatal form HP:0002913 biolink:PhenotypicFeature HP:0008315 biolink:PhenotypicFeature HP:0011936 biolink:PhenotypicFeature HP:0012380 biolink:PhenotypicFeature HP:0040320 biolink:PhenotypicFeature HP:0045045 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000113 biolink:PhenotypicFeature HP:0000800 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001985 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0003215 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001637 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0006559 biolink:PhenotypicFeature HP:0007229 biolink:PhenotypicFeature HP:0008682 biolink:PhenotypicFeature HP:0012722 biolink:PhenotypicFeature Orphanet:157 biolink:Disease Carnitine palmitoyltransferase II deficiency HP:0001324 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0012380 biolink:PhenotypicFeature HP:0002913 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0003738 biolink:PhenotypicFeature HP:0008315 biolink:PhenotypicFeature HP:0011936 biolink:PhenotypicFeature HP:0040320 biolink:PhenotypicFeature HP:0045045 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0003449 biolink:PhenotypicFeature HP:0003710 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0008682 biolink:PhenotypicFeature HP:0011964 biolink:PhenotypicFeature HP:0000113 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000800 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001985 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0006559 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature Orphanet:125 biolink:Disease Bloom syndrome HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0002715 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0008850 biolink:PhenotypicFeature HP:0008887 biolink:PhenotypicFeature HP:0000272 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002720 biolink:PhenotypicFeature HP:0002850 biolink:PhenotypicFeature HP:0003251 biolink:PhenotypicFeature HP:0004315 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0031393 biolink:PhenotypicFeature HP:0032218 biolink:PhenotypicFeature HP:0040195 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000027 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000653 biolink:PhenotypicFeature HP:0000798 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001009 biolink:PhenotypicFeature HP:0001029 biolink:PhenotypicFeature HP:0001818 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002229 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0004808 biolink:PhenotypicFeature HP:0005353 biolink:PhenotypicFeature HP:0006510 biolink:PhenotypicFeature HP:0006721 biolink:PhenotypicFeature HP:0006758 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0011110 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0012384 biolink:PhenotypicFeature HP:0012387 biolink:PhenotypicFeature HP:0012743 biolink:PhenotypicFeature HP:0020105 biolink:PhenotypicFeature HP:0025615 biolink:PhenotypicFeature HP:0031123 biolink:PhenotypicFeature HP:0032170 biolink:PhenotypicFeature HP:0100013 biolink:PhenotypicFeature HP:0100273 biolink:PhenotypicFeature HP:0100825 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0012126 biolink:PhenotypicFeature HP:0100751 biolink:PhenotypicFeature Orphanet:228305 biolink:Disease Carnitine palmitoyl transferase II deficiency, severe infantile form HP:0002910 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0006929 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012380 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0002913 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003449 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0003710 biolink:PhenotypicFeature HP:0003738 biolink:PhenotypicFeature HP:0008315 biolink:PhenotypicFeature HP:0011936 biolink:PhenotypicFeature HP:0011964 biolink:PhenotypicFeature HP:0040320 biolink:PhenotypicFeature HP:0045045 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001714 biolink:PhenotypicFeature HP:0001985 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature Orphanet:73263 biolink:Disease Zygomycosis HP:0000246 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0032162 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000629 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001291 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001742 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001993 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002248 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002583 biolink:PhenotypicFeature HP:0004377 biolink:PhenotypicFeature HP:0004387 biolink:PhenotypicFeature HP:0005263 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0011949 biolink:PhenotypicFeature HP:0031417 biolink:PhenotypicFeature HP:0032166 biolink:PhenotypicFeature HP:0032172 biolink:PhenotypicFeature HP:0032177 biolink:PhenotypicFeature HP:0032564 biolink:PhenotypicFeature HP:0032674 biolink:PhenotypicFeature HP:0045026 biolink:PhenotypicFeature HP:0100537 biolink:PhenotypicFeature HP:0100539 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000123 biolink:PhenotypicFeature HP:0000265 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000544 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002249 biolink:PhenotypicFeature HP:0002573 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0004418 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0004944 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012375 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0020101 biolink:PhenotypicFeature HP:0025059 biolink:PhenotypicFeature HP:0025326 biolink:PhenotypicFeature HP:0030049 biolink:PhenotypicFeature HP:0031369 biolink:PhenotypicFeature HP:0100584 biolink:PhenotypicFeature Orphanet:36238 biolink:Disease Staphylococcal necrotizing pneumonia HP:0012418 biolink:PhenotypicFeature HP:0031246 biolink:PhenotypicFeature HP:0031864 biolink:PhenotypicFeature HP:0032177 biolink:PhenotypicFeature HP:0032308 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0025144 biolink:PhenotypicFeature HP:0025419 biolink:PhenotypicFeature HP:0025439 biolink:PhenotypicFeature HP:0031273 biolink:PhenotypicFeature HP:0032016 biolink:PhenotypicFeature HP:0100758 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0030955 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0011897 biolink:PhenotypicFeature HP:0011919 biolink:PhenotypicFeature HP:0011949 biolink:PhenotypicFeature Orphanet:83313 biolink:Disease Boutonneuse fever HP:0000988 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0040211 biolink:PhenotypicFeature HP:0100872 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003496 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0025289 biolink:PhenotypicFeature HP:0032156 biolink:PhenotypicFeature HP:0040186 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0003237 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature Orphanet:79139 biolink:Disease Japanese encephalitis HP:0001945 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0000273 biolink:PhenotypicFeature HP:0000298 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002396 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003431 biolink:PhenotypicFeature HP:0003444 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0003496 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0007277 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0010549 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0011897 biolink:PhenotypicFeature HP:0012229 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012692 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0040272 biolink:PhenotypicFeature HP:0200149 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002060 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002179 biolink:PhenotypicFeature HP:0002181 biolink:PhenotypicFeature HP:0002203 biolink:PhenotypicFeature HP:0002339 biolink:PhenotypicFeature HP:0002418 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0002816 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003781 biolink:PhenotypicFeature HP:0007361 biolink:PhenotypicFeature HP:0007695 biolink:PhenotypicFeature HP:0007941 biolink:PhenotypicFeature HP:0008959 biolink:PhenotypicFeature HP:0010543 biolink:PhenotypicFeature HP:0010546 biolink:PhenotypicFeature HP:0010547 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0010663 biolink:PhenotypicFeature HP:0010851 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011153 biolink:PhenotypicFeature HP:0011182 biolink:PhenotypicFeature HP:0011468 biolink:PhenotypicFeature HP:0012195 biolink:PhenotypicFeature HP:0012502 biolink:PhenotypicFeature HP:0025145 biolink:PhenotypicFeature HP:0025258 biolink:PhenotypicFeature HP:0025387 biolink:PhenotypicFeature HP:0030826 biolink:PhenotypicFeature HP:0031218 biolink:PhenotypicFeature HP:0045007 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100598 biolink:PhenotypicFeature Orphanet:215 biolink:Disease Congenital stationary night blindness HP:0000545 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0030469 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0030638 biolink:PhenotypicFeature HP:0030639 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0007984 biolink:PhenotypicFeature HP:0030483 biolink:PhenotypicFeature HP:0031705 biolink:PhenotypicFeature HP:0000551 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0030329 biolink:PhenotypicFeature Orphanet:653 biolink:Disease Multiple endocrine neoplasia type 2 HP:0002865 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002640 biolink:PhenotypicFeature HP:0002666 biolink:PhenotypicFeature HP:0003345 biolink:PhenotypicFeature HP:0003528 biolink:PhenotypicFeature HP:0003639 biolink:PhenotypicFeature HP:0008208 biolink:PhenotypicFeature HP:0011781 biolink:PhenotypicFeature HP:0011976 biolink:PhenotypicFeature HP:0011978 biolink:PhenotypicFeature HP:0025388 biolink:PhenotypicFeature HP:0032241 biolink:PhenotypicFeature HP:0100735 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001519 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002150 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002864 biolink:PhenotypicFeature HP:0002896 biolink:PhenotypicFeature HP:0002897 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0003165 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0008200 biolink:PhenotypicFeature HP:0010622 biolink:PhenotypicFeature HP:0010726 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0025151 biolink:PhenotypicFeature HP:0025289 biolink:PhenotypicFeature HP:0030430 biolink:PhenotypicFeature HP:0030809 biolink:PhenotypicFeature HP:0030833 biolink:PhenotypicFeature HP:0031023 biolink:PhenotypicFeature HP:0032346 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0003758 biolink:PhenotypicFeature HP:0007126 biolink:PhenotypicFeature Orphanet:699 biolink:Disease Pearson syndrome HP:0001875 biolink:PhenotypicFeature HP:0001923 biolink:PhenotypicFeature HP:0003348 biolink:PhenotypicFeature HP:0003648 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0005561 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0032653 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001738 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0012040 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002148 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002570 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0002917 biolink:PhenotypicFeature HP:0003076 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0031546 biolink:PhenotypicFeature HP:0032066 biolink:PhenotypicFeature HP:0100732 biolink:PhenotypicFeature HP:0200118 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000829 biolink:PhenotypicFeature HP:0000846 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0006270 biolink:PhenotypicFeature HP:0006577 biolink:PhenotypicFeature HP:0008501 biolink:PhenotypicFeature Orphanet:524 biolink:Disease Li-Fraumeni syndrome HP:0002664 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0001909 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002669 biolink:PhenotypicFeature HP:0002859 biolink:PhenotypicFeature HP:0002888 biolink:PhenotypicFeature HP:0006744 biolink:PhenotypicFeature HP:0007378 biolink:PhenotypicFeature HP:0009592 biolink:PhenotypicFeature HP:0012126 biolink:PhenotypicFeature HP:0012174 biolink:PhenotypicFeature HP:0030070 biolink:PhenotypicFeature HP:0030392 biolink:PhenotypicFeature HP:0100006 biolink:PhenotypicFeature HP:0200063 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0002885 biolink:PhenotypicFeature HP:0002890 biolink:PhenotypicFeature HP:0002894 biolink:PhenotypicFeature HP:0003003 biolink:PhenotypicFeature HP:0004808 biolink:PhenotypicFeature HP:0006721 biolink:PhenotypicFeature HP:0009726 biolink:PhenotypicFeature HP:0010788 biolink:PhenotypicFeature HP:0012125 biolink:PhenotypicFeature HP:0012189 biolink:PhenotypicFeature HP:0012288 biolink:PhenotypicFeature HP:0012539 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature HP:0100605 biolink:PhenotypicFeature HP:0100615 biolink:PhenotypicFeature HP:0100743 biolink:PhenotypicFeature HP:0100768 biolink:PhenotypicFeature Orphanet:136 biolink:Disease Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy HP:0002352 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0032325 biolink:PhenotypicFeature HP:0040329 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001575 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002077 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002140 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0002333 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0007236 biolink:PhenotypicFeature HP:0010794 biolink:PhenotypicFeature HP:0010992 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0031843 biolink:PhenotypicFeature HP:0100545 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature Orphanet:569 biolink:Disease Familial or sporadic hemiplegic migraine HP:0001324 biolink:PhenotypicFeature HP:0002077 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0011153 biolink:PhenotypicFeature HP:0011157 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000575 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001308 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002181 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0007240 biolink:PhenotypicFeature HP:0010835 biolink:PhenotypicFeature HP:0011172 biolink:PhenotypicFeature HP:0011468 biolink:PhenotypicFeature HP:0012229 biolink:PhenotypicFeature HP:0012508 biolink:PhenotypicFeature HP:0030786 biolink:PhenotypicFeature HP:0200149 biolink:PhenotypicFeature HP:0000360 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0002357 biolink:PhenotypicFeature HP:0006901 biolink:PhenotypicFeature HP:0007209 biolink:PhenotypicFeature HP:0007979 biolink:PhenotypicFeature HP:0008959 biolink:PhenotypicFeature HP:0010544 biolink:PhenotypicFeature HP:0010833 biolink:PhenotypicFeature HP:0011199 biolink:PhenotypicFeature HP:0012044 biolink:PhenotypicFeature HP:0031179 biolink:PhenotypicFeature HP:0032044 biolink:PhenotypicFeature HP:0032506 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0003392 biolink:PhenotypicFeature HP:0011196 biolink:PhenotypicFeature HP:0100576 biolink:PhenotypicFeature Orphanet:64 biolink:Disease Alström syndrome HP:0002091 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0002943 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0004438 biolink:PhenotypicFeature HP:0004469 biolink:PhenotypicFeature HP:0004626 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0007722 biolink:PhenotypicFeature HP:0008373 biolink:PhenotypicFeature HP:0010863 biolink:PhenotypicFeature HP:0011108 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0025383 biolink:PhenotypicFeature HP:0030948 biolink:PhenotypicFeature HP:0031865 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000012 biolink:PhenotypicFeature HP:0000016 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000099 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000230 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000771 biolink:PhenotypicFeature HP:0000798 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000832 biolink:PhenotypicFeature HP:0000858 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001685 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001751 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002040 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002292 biolink:PhenotypicFeature HP:0002311 biolink:PhenotypicFeature HP:0002925 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0006510 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0007787 biolink:PhenotypicFeature HP:0008625 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0009381 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0009894 biolink:PhenotypicFeature HP:0010790 biolink:PhenotypicFeature HP:0011073 biolink:PhenotypicFeature HP:0011510 biolink:PhenotypicFeature HP:0012041 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012786 biolink:PhenotypicFeature HP:0012860 biolink:PhenotypicFeature HP:0025335 biolink:PhenotypicFeature HP:0025336 biolink:PhenotypicFeature HP:0025488 biolink:PhenotypicFeature HP:0025496 biolink:PhenotypicFeature HP:0030348 biolink:PhenotypicFeature HP:0031507 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature HP:0410019 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002480 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0010465 biolink:PhenotypicFeature HP:0011147 biolink:PhenotypicFeature HP:0012569 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000388 biolink:PhenotypicFeature HP:0000408 biolink:PhenotypicFeature HP:0000548 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000009 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000815 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000842 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature Orphanet:1170 biolink:Disease Autosomal recessive cerebelloparenchymal disorder type 3 HP:0000640 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002275 biolink:PhenotypicFeature HP:0002506 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature HP:0007272 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002198 biolink:PhenotypicFeature HP:0002280 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010794 biolink:PhenotypicFeature Orphanet:228119 biolink:Disease Fusariosis HP:0020153 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0011356 biolink:PhenotypicFeature HP:0012203 biolink:PhenotypicFeature HP:0020101 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001818 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004377 biolink:PhenotypicFeature HP:0006516 biolink:PhenotypicFeature HP:0025179 biolink:PhenotypicFeature HP:0031245 biolink:PhenotypicFeature HP:0031457 biolink:PhenotypicFeature HP:0032177 biolink:PhenotypicFeature HP:0032252 biolink:PhenotypicFeature HP:0040186 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000479 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001743 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0011450 biolink:PhenotypicFeature HP:0012490 biolink:PhenotypicFeature HP:0025044 biolink:PhenotypicFeature HP:0030049 biolink:PhenotypicFeature HP:0032156 biolink:PhenotypicFeature HP:0032172 biolink:PhenotypicFeature HP:0100537 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0410017 biolink:PhenotypicFeature Orphanet:228123 biolink:Disease Coccidioidomycosis HP:0001945 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0003237 biolink:PhenotypicFeature HP:0003496 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0011450 biolink:PhenotypicFeature HP:0011919 biolink:PhenotypicFeature HP:0011921 biolink:PhenotypicFeature HP:0011972 biolink:PhenotypicFeature HP:0012219 biolink:PhenotypicFeature HP:0012229 biolink:PhenotypicFeature HP:0012282 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012490 biolink:PhenotypicFeature HP:0012500 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025084 biolink:PhenotypicFeature HP:0025615 biolink:PhenotypicFeature HP:0030351 biolink:PhenotypicFeature HP:0032177 biolink:PhenotypicFeature HP:0032217 biolink:PhenotypicFeature HP:0032252 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature HP:0200149 biolink:PhenotypicFeature HP:0000014 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000479 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000751 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0000885 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0001163 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001743 biolink:PhenotypicFeature HP:0001783 biolink:PhenotypicFeature HP:0001871 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0002682 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0010460 biolink:PhenotypicFeature HP:0010461 biolink:PhenotypicFeature HP:0011314 biolink:PhenotypicFeature HP:0012864 biolink:PhenotypicFeature HP:0020101 biolink:PhenotypicFeature HP:0025637 biolink:PhenotypicFeature HP:0031179 biolink:PhenotypicFeature HP:0032161 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:411703 biolink:Disease Pulmonary non-tuberculous mycobacterial infection HP:0003565 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025406 biolink:PhenotypicFeature HP:0031457 biolink:PhenotypicFeature HP:0032016 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0006510 biolink:PhenotypicFeature HP:0030830 biolink:PhenotypicFeature HP:0032130 biolink:PhenotypicFeature HP:0032283 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature Orphanet:1949 biolink:Disease Benign familial neonatal epilepsy HP:0007359 biolink:PhenotypicFeature HP:0011167 biolink:PhenotypicFeature HP:0011188 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002266 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0011154 biolink:PhenotypicFeature HP:0032556 biolink:PhenotypicFeature HP:0045084 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0011171 biolink:PhenotypicFeature HP:0011468 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0031535 biolink:PhenotypicFeature Orphanet:2309 biolink:Disease Pachyonychia congenita HP:0000982 biolink:PhenotypicFeature HP:0007446 biolink:PhenotypicFeature HP:0008401 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0012514 biolink:PhenotypicFeature HP:0030268 biolink:PhenotypicFeature HP:0002745 biolink:PhenotypicFeature HP:0007410 biolink:PhenotypicFeature HP:0007490 biolink:PhenotypicFeature HP:0007502 biolink:PhenotypicFeature HP:0010765 biolink:PhenotypicFeature HP:0012035 biolink:PhenotypicFeature HP:0025245 biolink:PhenotypicFeature HP:0040036 biolink:PhenotypicFeature HP:0100798 biolink:PhenotypicFeature HP:0200040 biolink:PhenotypicFeature HP:0000695 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001818 biolink:PhenotypicFeature HP:0006288 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0025248 biolink:PhenotypicFeature HP:0030766 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0030318 biolink:PhenotypicFeature Orphanet:485 biolink:Disease Kniest dysplasia HP:0008271 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0001367 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001591 biolink:PhenotypicFeature HP:0002663 biolink:PhenotypicFeature HP:0003037 biolink:PhenotypicFeature HP:0003330 biolink:PhenotypicFeature HP:0003498 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007773 biolink:PhenotypicFeature HP:0007964 biolink:PhenotypicFeature HP:0011003 biolink:PhenotypicFeature HP:0012069 biolink:PhenotypicFeature HP:0012785 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000947 biolink:PhenotypicFeature HP:0003016 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003040 biolink:PhenotypicFeature HP:0003051 biolink:PhenotypicFeature HP:0003311 biolink:PhenotypicFeature HP:0003521 biolink:PhenotypicFeature HP:0007992 biolink:PhenotypicFeature HP:0008063 biolink:PhenotypicFeature HP:0009815 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0010574 biolink:PhenotypicFeature HP:0010580 biolink:PhenotypicFeature HP:0010646 biolink:PhenotypicFeature HP:0012230 biolink:PhenotypicFeature HP:0000201 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0002949 biolink:PhenotypicFeature HP:0003417 biolink:PhenotypicFeature HP:0004557 biolink:PhenotypicFeature HP:0006375 biolink:PhenotypicFeature HP:0006454 biolink:PhenotypicFeature HP:0008422 biolink:PhenotypicFeature HP:0012019 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002176 biolink:PhenotypicFeature HP:0008755 biolink:PhenotypicFeature Orphanet:2388 biolink:Disease Choreoacanthocytosis HP:0002072 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001927 biolink:PhenotypicFeature HP:0002275 biolink:PhenotypicFeature HP:0002340 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0002527 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003438 biolink:PhenotypicFeature HP:0003445 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0007078 biolink:PhenotypicFeature HP:0012049 biolink:PhenotypicFeature HP:0025402 biolink:PhenotypicFeature HP:0030272 biolink:PhenotypicFeature HP:0100034 biolink:PhenotypicFeature HP:0100035 biolink:PhenotypicFeature HP:0100295 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000514 biolink:PhenotypicFeature HP:0000643 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0002505 biolink:PhenotypicFeature HP:0002599 biolink:PhenotypicFeature HP:0003380 biolink:PhenotypicFeature HP:0003763 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0006913 biolink:PhenotypicFeature HP:0008110 biolink:PhenotypicFeature HP:0008767 biolink:PhenotypicFeature HP:0009049 biolink:PhenotypicFeature HP:0010808 biolink:PhenotypicFeature HP:0011999 biolink:PhenotypicFeature HP:0012048 biolink:PhenotypicFeature HP:0012167 biolink:PhenotypicFeature HP:0012168 biolink:PhenotypicFeature HP:0012479 biolink:PhenotypicFeature HP:0012697 biolink:PhenotypicFeature HP:0025100 biolink:PhenotypicFeature HP:0025331 biolink:PhenotypicFeature HP:0025479 biolink:PhenotypicFeature HP:0025517 biolink:PhenotypicFeature HP:0030220 biolink:PhenotypicFeature HP:0031008 biolink:PhenotypicFeature HP:0031843 biolink:PhenotypicFeature HP:0031908 biolink:PhenotypicFeature HP:0031982 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0012675 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0031956 biolink:PhenotypicFeature HP:0031964 biolink:PhenotypicFeature Orphanet:2590 biolink:Disease Spinal muscular atrophy-progressive myoclonic epilepsy syndrome HP:0001250 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002366 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002100 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0011147 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001757 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0025097 biolink:PhenotypicFeature HP:0025190 biolink:PhenotypicFeature HP:0032667 biolink:PhenotypicFeature HP:0045084 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature Orphanet:1187 biolink:Disease Lethal ataxia with deafness and optic atrophy HP:0000505 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0003431 biolink:PhenotypicFeature HP:0003444 biolink:PhenotypicFeature HP:0007258 biolink:PhenotypicFeature HP:0007377 biolink:PhenotypicFeature HP:0008527 biolink:PhenotypicFeature HP:0030272 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0000467 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002445 biolink:PhenotypicFeature HP:0003537 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0008311 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011185 biolink:PhenotypicFeature HP:0011476 biolink:PhenotypicFeature HP:0012389 biolink:PhenotypicFeature Orphanet:174 biolink:Disease Metaphyseal chondrodysplasia, Schmid type HP:0002515 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0003021 biolink:PhenotypicFeature HP:0003025 biolink:PhenotypicFeature HP:0006431 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0025369 biolink:PhenotypicFeature HP:0030299 biolink:PhenotypicFeature HP:0000907 biolink:PhenotypicFeature HP:0001248 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0002980 biolink:PhenotypicFeature HP:0003015 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003411 biolink:PhenotypicFeature HP:0005028 biolink:PhenotypicFeature HP:0005923 biolink:PhenotypicFeature HP:0006028 biolink:PhenotypicFeature HP:0006208 biolink:PhenotypicFeature HP:0006634 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature HP:0009852 biolink:PhenotypicFeature HP:0045079 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0002979 biolink:PhenotypicFeature HP:0003301 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0004019 biolink:PhenotypicFeature HP:0004042 biolink:PhenotypicFeature Orphanet:1826 biolink:Disease Frontometaphyseal dysplasia HP:0000316 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0009473 biolink:PhenotypicFeature HP:0009803 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000941 biolink:PhenotypicFeature HP:0001220 biolink:PhenotypicFeature HP:0001239 biolink:PhenotypicFeature HP:0001607 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002694 biolink:PhenotypicFeature HP:0002949 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0002996 biolink:PhenotypicFeature HP:0003016 biolink:PhenotypicFeature HP:0003083 biolink:PhenotypicFeature HP:0006000 biolink:PhenotypicFeature HP:0006070 biolink:PhenotypicFeature HP:0006248 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature HP:0008661 biolink:PhenotypicFeature HP:0009487 biolink:PhenotypicFeature HP:0009650 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010501 biolink:PhenotypicFeature HP:0010505 biolink:PhenotypicFeature HP:0010562 biolink:PhenotypicFeature HP:0010743 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000410 biolink:PhenotypicFeature HP:0000481 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0000912 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0003298 biolink:PhenotypicFeature HP:0006006 biolink:PhenotypicFeature HP:0006383 biolink:PhenotypicFeature HP:0008952 biolink:PhenotypicFeature HP:0009004 biolink:PhenotypicFeature Orphanet:2148 biolink:Disease Lissencephaly type 1 due to doublecortin gene mutation HP:0000708 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0003808 biolink:PhenotypicFeature HP:0007015 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0012672 biolink:PhenotypicFeature HP:0031882 biolink:PhenotypicFeature HP:0040168 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002339 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002835 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012520 biolink:PhenotypicFeature HP:0012762 biolink:PhenotypicFeature HP:0200134 biolink:PhenotypicFeature Orphanet:466950 biolink:Disease Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation HP:0000708 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0000321 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0000125 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000395 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000539 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001212 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002793 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005288 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature HP:0009794 biolink:PhenotypicFeature HP:0011147 biolink:PhenotypicFeature HP:0011171 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011822 biolink:PhenotypicFeature HP:0012076 biolink:PhenotypicFeature HP:0012704 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0100581 biolink:PhenotypicFeature HP:0100702 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature Orphanet:90321 biolink:Disease Cockayne syndrome type 1 HP:0000276 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000633 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003134 biolink:PhenotypicFeature HP:0003138 biolink:PhenotypicFeature HP:0004370 biolink:PhenotypicFeature HP:0005328 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000674 biolink:PhenotypicFeature HP:0000680 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0006313 biolink:PhenotypicFeature HP:0006334 biolink:PhenotypicFeature HP:0100699 biolink:PhenotypicFeature HP:0000026 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002135 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0004463 biolink:PhenotypicFeature HP:0008366 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature Orphanet:284169 biolink:Disease Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion HP:0001629 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001714 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002608 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0010800 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature Orphanet:464311 biolink:Disease Intellectual disability syndrome due to a DYRK1A point mutation HP:0000252 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0003561 biolink:PhenotypicFeature HP:0009121 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0006466 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0011171 biolink:PhenotypicFeature HP:0011757 biolink:PhenotypicFeature HP:0012785 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000125 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0002247 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature Orphanet:90322 biolink:Disease Cockayne syndrome type 2 HP:0001249 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002545 biolink:PhenotypicFeature HP:0007346 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0005328 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000674 biolink:PhenotypicFeature HP:0000680 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0006313 biolink:PhenotypicFeature HP:0006334 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0100699 biolink:PhenotypicFeature HP:0000026 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature Orphanet:391641 biolink:Disease Feingold syndrome type 1 HP:0000252 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0002589 biolink:PhenotypicFeature HP:0005819 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002032 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004220 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0004692 biolink:PhenotypicFeature HP:0009577 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000110 biolink:PhenotypicFeature HP:0000123 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002247 biolink:PhenotypicFeature HP:0010446 biolink:PhenotypicFeature HP:0011611 biolink:PhenotypicFeature HP:0011625 biolink:PhenotypicFeature HP:0011662 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005235 biolink:PhenotypicFeature Orphanet:93346 biolink:Disease Spondyloepimetaphyseal dysplasia congenita, Strudwick type HP:0003015 biolink:PhenotypicFeature HP:0045060 biolink:PhenotypicFeature HP:0000162 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003173 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0008462 biolink:PhenotypicFeature HP:0010585 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100569 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001216 biolink:PhenotypicFeature HP:0002176 biolink:PhenotypicFeature HP:0002795 biolink:PhenotypicFeature HP:0005193 biolink:PhenotypicFeature HP:0008755 biolink:PhenotypicFeature HP:0008800 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature Orphanet:94068 biolink:Disease Spondyloepiphyseal dysplasia congenita HP:0001510 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0003521 biolink:PhenotypicFeature HP:0010575 biolink:PhenotypicFeature HP:0045060 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003180 biolink:PhenotypicFeature HP:0009824 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0030838 biolink:PhenotypicFeature HP:0040194 biolink:PhenotypicFeature HP:0100569 biolink:PhenotypicFeature HP:0000162 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001552 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0002176 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002795 biolink:PhenotypicFeature HP:0002996 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003097 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0008462 biolink:PhenotypicFeature HP:0008755 biolink:PhenotypicFeature HP:0010585 biolink:PhenotypicFeature HP:0030839 biolink:PhenotypicFeature HP:0100864 biolink:PhenotypicFeature Orphanet:89843 biolink:Disease Dystrophic epidermolysis bullosa pruriginosa HP:0000989 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature HP:0012221 biolink:PhenotypicFeature HP:0100725 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature HP:0000152 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0002973 biolink:PhenotypicFeature HP:0003341 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0100699 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature Orphanet:90349 biolink:Disease Autosomal recessive cutis laxa type 1 HP:0000973 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0010750 biolink:PhenotypicFeature HP:0025167 biolink:PhenotypicFeature HP:0100679 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature HP:0002756 biolink:PhenotypicFeature HP:0004426 biolink:PhenotypicFeature HP:0004969 biolink:PhenotypicFeature HP:0011004 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0032153 biolink:PhenotypicFeature HP:0045027 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002256 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0004381 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0006698 biolink:PhenotypicFeature HP:0008722 biolink:PhenotypicFeature HP:0012330 biolink:PhenotypicFeature HP:0012619 biolink:PhenotypicFeature HP:0030872 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature Orphanet:89842 biolink:Disease Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form HP:0000987 biolink:PhenotypicFeature HP:0001030 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0031903 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002031 biolink:PhenotypicFeature HP:0002043 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003234 biolink:PhenotypicFeature HP:0004395 biolink:PhenotypicFeature HP:0007400 biolink:PhenotypicFeature HP:0010450 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0031831 biolink:PhenotypicFeature HP:0032676 biolink:PhenotypicFeature HP:0040303 biolink:PhenotypicFeature HP:0100512 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0001057 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001798 biolink:PhenotypicFeature HP:0001802 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0003764 biolink:PhenotypicFeature HP:0004057 biolink:PhenotypicFeature HP:0010296 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0012390 biolink:PhenotypicFeature HP:0200020 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature Orphanet:93308 biolink:Disease Multiple epiphyseal dysplasia type 1 HP:0001288 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003365 biolink:PhenotypicFeature HP:0030839 biolink:PhenotypicFeature HP:0030973 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002663 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0003170 biolink:PhenotypicFeature HP:0003498 biolink:PhenotypicFeature HP:0006094 biolink:PhenotypicFeature HP:0030840 biolink:PhenotypicFeature HP:0045086 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0005743 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature Orphanet:93311 biolink:Disease Multiple epiphyseal dysplasia type 5 HP:0001385 biolink:PhenotypicFeature HP:0008828 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001384 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0003088 biolink:PhenotypicFeature HP:0003502 biolink:PhenotypicFeature HP:0003839 biolink:PhenotypicFeature HP:0010631 biolink:PhenotypicFeature HP:0030839 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003170 biolink:PhenotypicFeature HP:0003184 biolink:PhenotypicFeature HP:0003365 biolink:PhenotypicFeature HP:0004268 biolink:PhenotypicFeature HP:0005743 biolink:PhenotypicFeature HP:0005877 biolink:PhenotypicFeature HP:0008419 biolink:PhenotypicFeature HP:0008800 biolink:PhenotypicFeature HP:0030840 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature Orphanet:93400 biolink:Disease Congenital sialidosis type 2 HP:0000280 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000943 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0010729 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0001009 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0007750 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0030506 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003115 biolink:PhenotypicFeature HP:0004554 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature HP:0010808 biolink:PhenotypicFeature Orphanet:268261 biolink:Disease DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001531 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001780 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002365 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0003429 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005768 biolink:PhenotypicFeature HP:0011757 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000041 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000049 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002171 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0010946 biolink:PhenotypicFeature HP:0011147 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0011822 biolink:PhenotypicFeature HP:0011917 biolink:PhenotypicFeature HP:0012171 biolink:PhenotypicFeature HP:0025163 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000185 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001641 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0010314 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0040188 biolink:PhenotypicFeature HP:0100783 biolink:PhenotypicFeature Orphanet:411641 biolink:Disease Ocular cystinosis HP:0000505 biolink:PhenotypicFeature HP:0000531 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0032639 biolink:PhenotypicFeature Orphanet:268947 biolink:Disease Unilateral focal polymicrogyria HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0002539 biolink:PhenotypicFeature HP:0011099 biolink:PhenotypicFeature HP:0011153 biolink:PhenotypicFeature HP:0100308 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007334 biolink:PhenotypicFeature HP:0007377 biolink:PhenotypicFeature HP:0012015 biolink:PhenotypicFeature HP:0012018 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000758 biolink:PhenotypicFeature HP:0001335 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0007229 biolink:PhenotypicFeature HP:0011171 biolink:PhenotypicFeature HP:0012014 biolink:PhenotypicFeature HP:0012016 biolink:PhenotypicFeature HP:0012017 biolink:PhenotypicFeature Orphanet:101071 biolink:Disease Unilateral hemispheric polymicrogyria HP:0001249 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0002539 biolink:PhenotypicFeature HP:0006872 biolink:PhenotypicFeature HP:0006891 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0011185 biolink:PhenotypicFeature HP:0012704 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0020220 biolink:PhenotypicFeature Orphanet:208447 biolink:Disease Bilateral generalized polymicrogyria HP:0002194 biolink:PhenotypicFeature HP:0012736 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0007166 biolink:PhenotypicFeature HP:0007204 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0007824 biolink:PhenotypicFeature HP:0010553 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0010821 biolink:PhenotypicFeature HP:0011147 biolink:PhenotypicFeature HP:0011153 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0012704 biolink:PhenotypicFeature HP:0025097 biolink:PhenotypicFeature HP:0025100 biolink:PhenotypicFeature HP:0025517 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0200136 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature Orphanet:158673 biolink:Disease Localized dystrophic epidermolysis bullosa, acral form HP:0000963 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001009 biolink:PhenotypicFeature HP:0001029 biolink:PhenotypicFeature HP:0001030 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0001810 biolink:PhenotypicFeature HP:0002043 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0007473 biolink:PhenotypicFeature HP:0007548 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008391 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0031045 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0008390 biolink:PhenotypicFeature HP:0009811 biolink:PhenotypicFeature Orphanet:157846 biolink:Disease Neuroferritinopathy HP:0001332 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature HP:0012343 biolink:PhenotypicFeature HP:0012675 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000338 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002310 biolink:PhenotypicFeature HP:0002339 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0004373 biolink:PhenotypicFeature HP:0012677 biolink:PhenotypicFeature HP:0012678 biolink:PhenotypicFeature HP:0012690 biolink:PhenotypicFeature HP:0012696 biolink:PhenotypicFeature HP:0031959 biolink:PhenotypicFeature HP:0031982 biolink:PhenotypicFeature HP:0100321 biolink:PhenotypicFeature HP:0000643 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0001621 biolink:PhenotypicFeature HP:0001686 biolink:PhenotypicFeature HP:0002340 biolink:PhenotypicFeature HP:0002356 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0007350 biolink:PhenotypicFeature HP:0007772 biolink:PhenotypicFeature HP:0010530 biolink:PhenotypicFeature HP:0031960 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000727 biolink:PhenotypicFeature HP:0002322 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007123 biolink:PhenotypicFeature HP:0025331 biolink:PhenotypicFeature Orphanet:411634 biolink:Disease Juvenile nephropathic cystinosis HP:0000481 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000114 biolink:PhenotypicFeature HP:0000531 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0001994 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0003076 biolink:PhenotypicFeature HP:0003126 biolink:PhenotypicFeature HP:0003355 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature HP:0000117 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002148 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0002907 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0003537 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0010639 biolink:PhenotypicFeature HP:0012598 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0032639 biolink:PhenotypicFeature HP:0100512 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003472 biolink:PhenotypicFeature HP:0011106 biolink:PhenotypicFeature HP:0011314 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature Orphanet:2072 biolink:Disease Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome HP:0001433 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0004380 biolink:PhenotypicFeature HP:0004382 biolink:PhenotypicFeature HP:0004963 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001258 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0004406 biolink:PhenotypicFeature HP:0025190 biolink:PhenotypicFeature HP:0000027 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000570 biolink:PhenotypicFeature HP:0000605 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001058 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001085 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001743 biolink:PhenotypicFeature HP:0002040 biolink:PhenotypicFeature HP:0002070 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002592 biolink:PhenotypicFeature HP:0002619 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0005619 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0006689 biolink:PhenotypicFeature HP:0010543 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012389 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0025404 biolink:PhenotypicFeature HP:0031364 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature Orphanet:101030 biolink:Disease Subependymal nodular heterotopia HP:0001250 biolink:PhenotypicFeature HP:0002085 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002282 biolink:PhenotypicFeature HP:0002349 biolink:PhenotypicFeature HP:0003330 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0011818 biolink:PhenotypicFeature HP:0032046 biolink:PhenotypicFeature HP:0045084 biolink:PhenotypicFeature HP:0430005 biolink:PhenotypicFeature HP:0000290 biolink:PhenotypicFeature HP:0001338 biolink:PhenotypicFeature HP:0002057 biolink:PhenotypicFeature HP:0002367 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0011195 biolink:PhenotypicFeature HP:0012013 biolink:PhenotypicFeature HP:0025373 biolink:PhenotypicFeature HP:0031006 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:101029 biolink:Disease Sub-cortical nodular heterotopia HP:0001250 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002538 biolink:PhenotypicFeature HP:0032391 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002699 biolink:PhenotypicFeature HP:0010843 biolink:PhenotypicFeature HP:0011193 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature Orphanet:90324 biolink:Disease Cockayne syndrome type 3 HP:0000122 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0002135 biolink:PhenotypicFeature HP:0002446 biolink:PhenotypicFeature HP:0002461 biolink:PhenotypicFeature HP:0007346 biolink:PhenotypicFeature HP:0012447 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0003134 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0004934 biolink:PhenotypicFeature HP:0005181 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0008615 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0012762 biolink:PhenotypicFeature HP:0000016 biolink:PhenotypicFeature HP:0000072 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000253 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000460 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001530 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002216 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002344 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0011359 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0032263 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000546 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000573 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001105 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002616 biolink:PhenotypicFeature HP:0011527 biolink:PhenotypicFeature HP:0012804 biolink:PhenotypicFeature HP:0100309 biolink:PhenotypicFeature Orphanet:391646 biolink:Disease Feingold syndrome type 2 HP:0000252 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0005819 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001770 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005235 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001575 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature Orphanet:208444 biolink:Disease Bilateral frontal polymicrogyria HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0006801 biolink:PhenotypicFeature HP:0002200 biolink:PhenotypicFeature Orphanet:208441 biolink:Disease Bilateral parasagittal parieto-occipital polymicrogyria HP:0000750 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002539 biolink:PhenotypicFeature HP:0010862 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0000174 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001345 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002367 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0007024 biolink:PhenotypicFeature HP:0008765 biolink:PhenotypicFeature HP:0011297 biolink:PhenotypicFeature HP:0031258 biolink:PhenotypicFeature HP:0031589 biolink:PhenotypicFeature HP:0100852 biolink:PhenotypicFeature Orphanet:101070 biolink:Disease Bilateral frontoparietal polymicrogyria HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002539 biolink:PhenotypicFeature HP:0007033 biolink:PhenotypicFeature HP:0007266 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012110 biolink:PhenotypicFeature HP:0025190 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002365 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0011147 biolink:PhenotypicFeature HP:0040194 biolink:PhenotypicFeature Orphanet:98889 biolink:Disease Bilateral perisylvian polymicrogyria HP:0002269 biolink:PhenotypicFeature HP:0032407 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0002392 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0005684 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0012014 biolink:PhenotypicFeature HP:0012017 biolink:PhenotypicFeature HP:0020190 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001349 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002385 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0002835 biolink:PhenotypicFeature HP:0007024 biolink:PhenotypicFeature HP:0007033 biolink:PhenotypicFeature HP:0007301 biolink:PhenotypicFeature HP:0010808 biolink:PhenotypicFeature HP:0011157 biolink:PhenotypicFeature HP:0011755 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012015 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0410011 biolink:PhenotypicFeature Orphanet:95232 biolink:Disease Lissencephaly due to LIS1 mutation HP:0001250 biolink:PhenotypicFeature HP:0006891 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0000253 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002389 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002445 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0007772 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0010850 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012520 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0020191 biolink:PhenotypicFeature HP:0025336 biolink:PhenotypicFeature HP:0031882 biolink:PhenotypicFeature HP:0032398 biolink:PhenotypicFeature HP:0200134 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002179 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0003265 biolink:PhenotypicFeature HP:0007270 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0011153 biolink:PhenotypicFeature HP:0011201 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0020189 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0002478 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature Orphanet:357058 biolink:Disease Autosomal recessive cutis laxa type 2A HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0003160 biolink:PhenotypicFeature HP:0004474 biolink:PhenotypicFeature HP:0005328 biolink:PhenotypicFeature HP:0007392 biolink:PhenotypicFeature HP:0011003 biolink:PhenotypicFeature HP:0025082 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002198 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002384 biolink:PhenotypicFeature HP:0002438 biolink:PhenotypicFeature HP:0005272 biolink:PhenotypicFeature HP:0005445 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0006891 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0100874 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002305 biolink:PhenotypicFeature HP:0002334 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0006989 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000481 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature Orphanet:294023 biolink:Disease Neonatal inflammatory skin and bowel disease HP:0000498 biolink:PhenotypicFeature HP:0001805 biolink:PhenotypicFeature HP:0003765 biolink:PhenotypicFeature HP:0005406 biolink:PhenotypicFeature HP:0008396 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011131 biolink:PhenotypicFeature HP:0011228 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature HP:0012390 biolink:PhenotypicFeature HP:0025085 biolink:PhenotypicFeature HP:0031123 biolink:PhenotypicFeature HP:0040181 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0100038 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature HP:0410017 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature Orphanet:530983 biolink:Disease Lamb-Shaffer syndrome HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000331 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001530 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002949 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0040195 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0002942 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature Orphanet:541423 biolink:Disease Growth delay-intellectual disability-hepatopathy syndrome HP:0001249 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature HP:0031831 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000081 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001027 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0006129 biolink:PhenotypicFeature HP:0010648 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0100511 biolink:PhenotypicFeature HP:0100633 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature Orphanet:542306 biolink:Disease GNB5-related intellectual disability-cardiac arrhythmia syndrome HP:0001263 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0000512 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0005155 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011704 biolink:PhenotypicFeature HP:0000546 biolink:PhenotypicFeature HP:0000563 biolink:PhenotypicFeature HP:0000817 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0012248 biolink:PhenotypicFeature Orphanet:543470 biolink:Disease Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0000648 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0010862 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0012087 biolink:PhenotypicFeature HP:0000062 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000603 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002506 biolink:PhenotypicFeature HP:0007333 biolink:PhenotypicFeature HP:0008665 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0012430 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012697 biolink:PhenotypicFeature HP:0012794 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100602 biolink:PhenotypicFeature Orphanet:544254 biolink:Disease SYNGAP1-related developmental and epileptic encephalopathy HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0010832 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002370 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0020208 biolink:PhenotypicFeature HP:0100738 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0008770 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0011150 biolink:PhenotypicFeature HP:0012703 biolink:PhenotypicFeature HP:0030810 biolink:PhenotypicFeature HP:0040080 biolink:PhenotypicFeature HP:0100023 biolink:PhenotypicFeature HP:0100259 biolink:PhenotypicFeature Orphanet:398079 biolink:Disease SIM1-related Prader-Willi-like syndrome HP:0000028 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000060 biolink:PhenotypicFeature HP:0000064 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001612 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0008197 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0012166 biolink:PhenotypicFeature HP:0012287 biolink:PhenotypicFeature HP:0012506 biolink:PhenotypicFeature HP:0012743 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000446 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002494 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0007874 biolink:PhenotypicFeature HP:0010536 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature HP:0011787 biolink:PhenotypicFeature HP:0012411 biolink:PhenotypicFeature HP:0012412 biolink:PhenotypicFeature HP:0025237 biolink:PhenotypicFeature HP:0040030 biolink:PhenotypicFeature Orphanet:352682 biolink:Disease Cobblestone lissencephaly without muscular or ocular involvement HP:0000238 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0002085 biolink:PhenotypicFeature HP:0002282 biolink:PhenotypicFeature HP:0002365 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0007260 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012447 biolink:PhenotypicFeature HP:0032398 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature Orphanet:370997 biolink:Disease Muscle-eye-brain disease with bilateral multicystic leucodystrophy HP:0001320 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002350 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0002415 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0007361 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011197 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0025336 biolink:PhenotypicFeature HP:0030046 biolink:PhenotypicFeature HP:0031882 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000557 biolink:PhenotypicFeature HP:0011003 biolink:PhenotypicFeature Orphanet:1084 biolink:Disease Isolated lissencephaly type 1 without known genetic defects HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002282 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011201 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0020219 biolink:PhenotypicFeature HP:0031882 biolink:PhenotypicFeature HP:0100952 biolink:PhenotypicFeature Orphanet:79408 biolink:Disease Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form HP:0001075 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0004057 biolink:PhenotypicFeature HP:0004386 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0012532 biolink:PhenotypicFeature HP:0200097 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001798 biolink:PhenotypicFeature HP:0001891 biolink:PhenotypicFeature HP:0001965 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature HP:0031446 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0001030 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0032676 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000099 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000794 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001057 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001917 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature HP:0004395 biolink:PhenotypicFeature HP:0004791 biolink:PhenotypicFeature HP:0010296 biolink:PhenotypicFeature HP:0011936 biolink:PhenotypicFeature HP:0012056 biolink:PhenotypicFeature HP:0012227 biolink:PhenotypicFeature HP:0012390 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0031831 biolink:PhenotypicFeature HP:0031903 biolink:PhenotypicFeature HP:0100492 biolink:PhenotypicFeature HP:0100508 biolink:PhenotypicFeature HP:0100512 biolink:PhenotypicFeature HP:0200020 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0031464 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0012252 biolink:PhenotypicFeature Orphanet:79410 biolink:Disease Localized dystrophic epidermolysis bullosa, pretibial form HP:0008066 biolink:PhenotypicFeature HP:0011355 biolink:PhenotypicFeature HP:0012221 biolink:PhenotypicFeature HP:0000987 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001030 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001798 biolink:PhenotypicFeature HP:0007446 biolink:PhenotypicFeature HP:0008388 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0010562 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0004057 biolink:PhenotypicFeature HP:0030350 biolink:PhenotypicFeature HP:0045059 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0200097 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001965 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0004386 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0012056 biolink:PhenotypicFeature HP:0012252 biolink:PhenotypicFeature HP:0031464 biolink:PhenotypicFeature Orphanet:79409 biolink:Disease Recessive dystrophic epidermolysis bullosa inversa HP:0001030 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0001798 biolink:PhenotypicFeature HP:0004386 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0011355 biolink:PhenotypicFeature HP:0031464 biolink:PhenotypicFeature HP:0200097 biolink:PhenotypicFeature HP:0000402 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002043 biolink:PhenotypicFeature HP:0004057 biolink:PhenotypicFeature HP:0007446 biolink:PhenotypicFeature HP:0012227 biolink:PhenotypicFeature HP:0025416 biolink:PhenotypicFeature HP:0200020 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001965 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0012056 biolink:PhenotypicFeature HP:0012252 biolink:PhenotypicFeature Orphanet:79411 biolink:Disease Self-improving dystrophic epidermolysis bullosa HP:0011354 biolink:PhenotypicFeature HP:0001030 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0001798 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0009723 biolink:PhenotypicFeature HP:0200097 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0001057 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0001000 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001965 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0004057 biolink:PhenotypicFeature HP:0004386 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0012056 biolink:PhenotypicFeature HP:0012252 biolink:PhenotypicFeature HP:0031464 biolink:PhenotypicFeature Orphanet:88644 biolink:Disease Autosomal recessive ataxia, Beauce type HP:0001251 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000570 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003445 biolink:PhenotypicFeature HP:0007267 biolink:PhenotypicFeature HP:0007772 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0025402 biolink:PhenotypicFeature HP:0031960 biolink:PhenotypicFeature HP:0001271 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0003390 biolink:PhenotypicFeature HP:0007178 biolink:PhenotypicFeature HP:0007366 biolink:PhenotypicFeature Orphanet:93945 biolink:Disease X-linked intellectual disability, Porteous type HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000378 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0002292 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature Orphanet:563609 biolink:Disease Isolated anencephaly HP:0000835 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0000776 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0010516 biolink:PhenotypicFeature HP:0030244 biolink:PhenotypicFeature HP:0410030 biolink:PhenotypicFeature Orphanet:93950 biolink:Disease X-linked intellectual disability, Sutherland-Haan type HP:0000252 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000275 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature Orphanet:93399 biolink:Disease Juvenile sialidosis type 2 HP:0000280 biolink:PhenotypicFeature HP:0000943 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0003271 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010729 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003312 biolink:PhenotypicFeature HP:0004554 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0009891 biolink:PhenotypicFeature HP:0010808 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:563612 biolink:Disease Isolated exencephaly HP:0000520 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002683 biolink:PhenotypicFeature HP:0005466 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0010627 biolink:PhenotypicFeature HP:0011756 biolink:PhenotypicFeature HP:0011821 biolink:PhenotypicFeature HP:0030244 biolink:PhenotypicFeature Orphanet:79473 biolink:Disease Porphyria variegata HP:0002027 biolink:PhenotypicFeature HP:0010472 biolink:PhenotypicFeature HP:0010473 biolink:PhenotypicFeature HP:0012217 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000992 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0003163 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0007178 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002203 biolink:PhenotypicFeature HP:0002595 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0011355 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0031218 biolink:PhenotypicFeature HP:0100699 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0011999 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature Orphanet:1855 biolink:Disease Spondyloenchondrodysplasia HP:0000926 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0100255 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0020151 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000946 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001890 biolink:PhenotypicFeature HP:0001973 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0002979 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003521 biolink:PhenotypicFeature HP:0005681 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012514 biolink:PhenotypicFeature HP:0030038 biolink:PhenotypicFeature HP:0030047 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0032252 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature Orphanet:561854 biolink:Disease FOXG1 syndrome HP:0000253 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000749 biolink:PhenotypicFeature HP:0000817 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002310 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0003763 biolink:PhenotypicFeature HP:0003781 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0008850 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0030215 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002795 biolink:PhenotypicFeature HP:0007766 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0012171 biolink:PhenotypicFeature Orphanet:544488 biolink:Disease Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome HP:0000256 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000653 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0002003 biolink:PhenotypicFeature HP:0002223 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008689 biolink:PhenotypicFeature HP:0012520 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000561 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000902 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001800 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002334 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002608 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0006989 biolink:PhenotypicFeature HP:0007074 biolink:PhenotypicFeature HP:0007082 biolink:PhenotypicFeature HP:0007109 biolink:PhenotypicFeature HP:0010880 biolink:PhenotypicFeature HP:0011276 biolink:PhenotypicFeature HP:0011309 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0032152 biolink:PhenotypicFeature HP:0032671 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0410018 biolink:PhenotypicFeature Orphanet:565624 biolink:Disease Combined oxidative phosphorylation defect type 39 HP:0000543 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000817 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature HP:0007321 biolink:PhenotypicFeature HP:0008763 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001998 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002058 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0005745 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0007366 biolink:PhenotypicFeature HP:0007371 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0012428 biolink:PhenotypicFeature HP:0031959 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature Orphanet:564178 biolink:Disease Primary hypomagnesemia-refractory seizures-intellectual disability syndrome HP:0000121 biolink:PhenotypicFeature HP:0000128 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002917 biolink:PhenotypicFeature HP:0005567 biolink:PhenotypicFeature HP:0006872 biolink:PhenotypicFeature HP:0012726 biolink:PhenotypicFeature Orphanet:572798 biolink:Disease WARS2-related combined oxidative phosphorylation defect HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0002509 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003700 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0012430 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001998 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002198 biolink:PhenotypicFeature HP:0002305 biolink:PhenotypicFeature HP:0002352 biolink:PhenotypicFeature HP:0002365 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002510 biolink:PhenotypicFeature HP:0003698 biolink:PhenotypicFeature HP:0005656 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0007772 biolink:PhenotypicFeature HP:0012704 biolink:PhenotypicFeature HP:0031165 biolink:PhenotypicFeature Orphanet:565899 biolink:Disease POMGNT2-related limb-girdle muscular dystrophy R24 HP:0001249 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003698 biolink:PhenotypicFeature HP:0005912 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0009046 biolink:PhenotypicFeature HP:0011892 biolink:PhenotypicFeature Orphanet:363958 biolink:Disease 17q21.31 microdeletion syndrome HP:0000414 biolink:PhenotypicFeature HP:0000447 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0100025 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000968 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001848 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0005656 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011182 biolink:PhenotypicFeature HP:0011185 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000075 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000748 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001054 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001212 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001533 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002286 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002779 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003302 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0004942 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0006813 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007099 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature HP:0008445 biolink:PhenotypicFeature HP:0009130 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0010945 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0011822 biolink:PhenotypicFeature HP:0012683 biolink:PhenotypicFeature HP:0012699 biolink:PhenotypicFeature HP:0025268 biolink:PhenotypicFeature HP:0030746 biolink:PhenotypicFeature HP:0100775 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0010788 biolink:PhenotypicFeature Orphanet:363965 biolink:Disease Koolen-De Vries syndrome due to a point mutation HP:0000414 biolink:PhenotypicFeature HP:0000447 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0100025 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000232 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000968 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001848 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0005656 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011182 biolink:PhenotypicFeature HP:0011185 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000075 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000748 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001054 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001212 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001533 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002286 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002779 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003302 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0004942 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0006813 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007099 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature HP:0008445 biolink:PhenotypicFeature HP:0009130 biolink:PhenotypicFeature HP:0009928 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0010945 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0011822 biolink:PhenotypicFeature HP:0012683 biolink:PhenotypicFeature HP:0012699 biolink:PhenotypicFeature HP:0025268 biolink:PhenotypicFeature HP:0030746 biolink:PhenotypicFeature HP:0100775 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0010788 biolink:PhenotypicFeature Orphanet:411511 biolink:Disease Angelman syndrome due to a point mutation HP:0000154 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0004485 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0040082 biolink:PhenotypicFeature HP:0040196 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000748 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002046 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0010808 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100023 biolink:PhenotypicFeature HP:0100703 biolink:PhenotypicFeature HP:0100738 biolink:PhenotypicFeature Orphanet:411515 biolink:Disease Angelman syndrome due to imprinting defect in 15q11-q13 HP:0000748 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0040082 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000710 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0004485 biolink:PhenotypicFeature HP:0006979 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature Orphanet:98794 biolink:Disease Angelman syndrome due to maternal 15q11q13 deletion HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0004485 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0011203 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000748 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010808 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0040082 biolink:PhenotypicFeature HP:0100703 biolink:PhenotypicFeature HP:0100738 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002046 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0010505 biolink:PhenotypicFeature HP:0040196 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100023 biolink:PhenotypicFeature Orphanet:98795 biolink:Disease Angelman syndrome due to paternal uniparental disomy of chromosome 15 HP:0000154 biolink:PhenotypicFeature HP:0000687 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0010808 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100703 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002046 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0004485 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0007270 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011185 biolink:PhenotypicFeature HP:0025190 biolink:PhenotypicFeature Orphanet:221016 biolink:Disease Rothmund-Thomson syndrome type 2 HP:0000953 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001029 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0001041 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0005775 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature HP:0200102 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000282 biolink:PhenotypicFeature HP:0000417 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001373 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002669 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002756 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0003065 biolink:PhenotypicFeature HP:0003189 biolink:PhenotypicFeature HP:0003995 biolink:PhenotypicFeature HP:0004039 biolink:PhenotypicFeature HP:0004979 biolink:PhenotypicFeature HP:0006443 biolink:PhenotypicFeature HP:0006496 biolink:PhenotypicFeature HP:0007418 biolink:PhenotypicFeature HP:0007556 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0009803 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0012719 biolink:PhenotypicFeature HP:0031367 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0100238 biolink:PhenotypicFeature HP:0100671 biolink:PhenotypicFeature HP:0001118 biolink:PhenotypicFeature HP:0001909 biolink:PhenotypicFeature HP:0001915 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0003761 biolink:PhenotypicFeature HP:0009700 biolink:PhenotypicFeature HP:0200044 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:79282 biolink:Disease Methylmalonic acidemia with homocystinuria, type cblC HP:0001249 biolink:PhenotypicFeature HP:0001889 biolink:PhenotypicFeature HP:0002160 biolink:PhenotypicFeature HP:0002912 biolink:PhenotypicFeature HP:0012120 biolink:PhenotypicFeature HP:0031544 biolink:PhenotypicFeature HP:0000206 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000546 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001116 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0008002 biolink:PhenotypicFeature HP:0010280 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0100820 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000751 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002352 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002625 biolink:PhenotypicFeature HP:0002919 biolink:PhenotypicFeature HP:0003658 biolink:PhenotypicFeature HP:0006827 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0008765 biolink:PhenotypicFeature HP:0011096 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0030891 biolink:PhenotypicFeature HP:0100309 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0005575 biolink:PhenotypicFeature HP:0007258 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0031258 biolink:PhenotypicFeature Orphanet:221008 biolink:Disease Rothmund-Thomson syndrome type 1 HP:0001029 biolink:PhenotypicFeature HP:0001118 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001009 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001041 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0005775 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000282 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000682 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007418 biolink:PhenotypicFeature HP:0007556 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0010978 biolink:PhenotypicFeature HP:0012719 biolink:PhenotypicFeature HP:0020110 biolink:PhenotypicFeature HP:0031367 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0100671 biolink:PhenotypicFeature HP:0100840 biolink:PhenotypicFeature HP:0200102 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001909 biolink:PhenotypicFeature HP:0001915 biolink:PhenotypicFeature HP:0002669 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0003065 biolink:PhenotypicFeature HP:0003761 biolink:PhenotypicFeature HP:0003995 biolink:PhenotypicFeature HP:0004039 biolink:PhenotypicFeature HP:0004979 biolink:PhenotypicFeature HP:0006443 biolink:PhenotypicFeature HP:0009700 biolink:PhenotypicFeature HP:0009803 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0200044 biolink:PhenotypicFeature Orphanet:254525 biolink:Disease Temple syndrome due to paternal 14q32.2 microdeletion HP:0000750 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0031878 biolink:PhenotypicFeature Orphanet:254531 biolink:Disease Temple syndrome due to paternal 14q32.2 hypomethylation HP:0000750 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000735 biolink:PhenotypicFeature HP:0000817 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0004673 biolink:PhenotypicFeature HP:0004904 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature Orphanet:536467 biolink:Disease B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001027 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002651 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0003016 biolink:PhenotypicFeature HP:0004993 biolink:PhenotypicFeature HP:0005008 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0008807 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0010575 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012095 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001822 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003300 biolink:PhenotypicFeature HP:0004568 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006243 biolink:PhenotypicFeature HP:0010646 biolink:PhenotypicFeature HP:0010648 biolink:PhenotypicFeature HP:0000410 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000703 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0000946 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002616 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002779 biolink:PhenotypicFeature HP:0002974 biolink:PhenotypicFeature HP:0003414 biolink:PhenotypicFeature HP:0004970 biolink:PhenotypicFeature HP:0005678 biolink:PhenotypicFeature HP:0006522 biolink:PhenotypicFeature HP:0008453 biolink:PhenotypicFeature HP:0009726 biolink:PhenotypicFeature HP:0012366 biolink:PhenotypicFeature HP:0012727 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature HP:0500087 biolink:PhenotypicFeature Orphanet:96184 biolink:Disease Temple syndrome due to maternal uniparental disomy of chromosome 14 HP:0000826 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0004904 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature Orphanet:177904 biolink:Disease Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 HP:0012412 biolink:PhenotypicFeature HP:0012650 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0030339 biolink:PhenotypicFeature HP:0031507 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002578 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0002871 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature HP:0031100 biolink:PhenotypicFeature HP:0031169 biolink:PhenotypicFeature HP:0100739 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000060 biolink:PhenotypicFeature HP:0000064 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0007874 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0008770 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0010627 biolink:PhenotypicFeature HP:0011734 biolink:PhenotypicFeature HP:0011787 biolink:PhenotypicFeature HP:0012104 biolink:PhenotypicFeature HP:0012105 biolink:PhenotypicFeature HP:0012166 biolink:PhenotypicFeature HP:0012411 biolink:PhenotypicFeature Orphanet:177901 biolink:Disease Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 HP:0000028 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000060 biolink:PhenotypicFeature HP:0000064 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0007874 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0008770 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0010627 biolink:PhenotypicFeature HP:0011734 biolink:PhenotypicFeature HP:0011787 biolink:PhenotypicFeature HP:0012104 biolink:PhenotypicFeature HP:0012105 biolink:PhenotypicFeature HP:0012166 biolink:PhenotypicFeature HP:0012411 biolink:PhenotypicFeature HP:0012412 biolink:PhenotypicFeature HP:0012650 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0030339 biolink:PhenotypicFeature HP:0031507 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0100739 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0002578 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0002871 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature HP:0031100 biolink:PhenotypicFeature HP:0031169 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature Orphanet:98793 biolink:Disease Prader-Willi syndrome due to paternal 15q11q13 deletion HP:0000028 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000060 biolink:PhenotypicFeature HP:0000064 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0007874 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0008770 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0010627 biolink:PhenotypicFeature HP:0011734 biolink:PhenotypicFeature HP:0011787 biolink:PhenotypicFeature HP:0012104 biolink:PhenotypicFeature HP:0012105 biolink:PhenotypicFeature HP:0012166 biolink:PhenotypicFeature HP:0012411 biolink:PhenotypicFeature HP:0012412 biolink:PhenotypicFeature HP:0012650 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0030339 biolink:PhenotypicFeature HP:0031507 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0100739 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0002578 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0002871 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature HP:0031100 biolink:PhenotypicFeature HP:0031169 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature Orphanet:98754 biolink:Disease Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 HP:0000028 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000060 biolink:PhenotypicFeature HP:0000064 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0010627 biolink:PhenotypicFeature HP:0011734 biolink:PhenotypicFeature HP:0012104 biolink:PhenotypicFeature HP:0012105 biolink:PhenotypicFeature HP:0012650 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0030339 biolink:PhenotypicFeature HP:0031169 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002578 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0002871 biolink:PhenotypicFeature HP:0007874 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature HP:0011787 biolink:PhenotypicFeature HP:0012166 biolink:PhenotypicFeature HP:0012411 biolink:PhenotypicFeature HP:0012412 biolink:PhenotypicFeature HP:0031100 biolink:PhenotypicFeature HP:0031507 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0100739 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature Orphanet:453504 biolink:Disease Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0001954 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002046 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002263 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0002572 biolink:PhenotypicFeature HP:0002578 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002877 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004389 biolink:PhenotypicFeature HP:0004442 biolink:PhenotypicFeature HP:0004443 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0004942 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0006481 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0007655 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009794 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0010297 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0011147 biolink:PhenotypicFeature HP:0011330 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0011807 biolink:PhenotypicFeature HP:0100259 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002282 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002711 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003763 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0010880 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000476 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000586 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001548 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature Orphanet:352665 biolink:Disease Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000455 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002282 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002711 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0003763 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0010880 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000476 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000586 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001548 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001954 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002046 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002263 biolink:PhenotypicFeature HP:0002558 biolink:PhenotypicFeature HP:0002572 biolink:PhenotypicFeature HP:0002578 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002877 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0003388 biolink:PhenotypicFeature HP:0003422 biolink:PhenotypicFeature HP:0004389 biolink:PhenotypicFeature HP:0004442 biolink:PhenotypicFeature HP:0004443 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0004942 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0006481 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0007655 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009794 biolink:PhenotypicFeature HP:0009804 biolink:PhenotypicFeature HP:0010297 biolink:PhenotypicFeature HP:0010807 biolink:PhenotypicFeature HP:0011147 biolink:PhenotypicFeature HP:0011330 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0011807 biolink:PhenotypicFeature HP:0100259 biolink:PhenotypicFeature Orphanet:438216 biolink:Disease PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0002058 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000297 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0000637 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002267 biolink:PhenotypicFeature HP:0006481 biolink:PhenotypicFeature HP:0006829 biolink:PhenotypicFeature HP:0008572 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0011081 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0012899 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature Orphanet:314655 biolink:Disease Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion HP:0000218 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005338 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002791 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0006829 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature HP:0011097 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0011167 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0025190 biolink:PhenotypicFeature Orphanet:314588 biolink:Disease Distal tetrasomy 15q HP:0000218 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001507 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0003517 biolink:PhenotypicFeature HP:0000034 biolink:PhenotypicFeature HP:0000085 biolink:PhenotypicFeature HP:0000113 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000378 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000766 biolink:PhenotypicFeature HP:0000811 biolink:PhenotypicFeature HP:0001131 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0010946 biolink:PhenotypicFeature HP:0011039 biolink:PhenotypicFeature HP:0012304 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature Orphanet:261652 biolink:Disease Kleefstra syndrome due to a point mutation HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0000078 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001548 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006863 biolink:PhenotypicFeature HP:0009909 biolink:PhenotypicFeature HP:0011351 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0200005 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000695 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0002023 biolink:PhenotypicFeature HP:0002171 biolink:PhenotypicFeature HP:0002779 biolink:PhenotypicFeature Orphanet:254534 biolink:Disease Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0005257 biolink:PhenotypicFeature HP:0006267 biolink:PhenotypicFeature HP:0006665 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0001540 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001548 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature Orphanet:398073 biolink:Disease Prader-Willi-like syndrome HP:0000819 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002578 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0002871 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0007874 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature HP:0011787 biolink:PhenotypicFeature HP:0012166 biolink:PhenotypicFeature HP:0012411 biolink:PhenotypicFeature HP:0012412 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0000044 biolink:PhenotypicFeature HP:0000046 biolink:PhenotypicFeature HP:0000060 biolink:PhenotypicFeature HP:0000064 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0000789 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature HP:0008734 biolink:PhenotypicFeature HP:0010627 biolink:PhenotypicFeature HP:0011734 biolink:PhenotypicFeature HP:0012104 biolink:PhenotypicFeature HP:0012105 biolink:PhenotypicFeature HP:0012650 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0030339 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000311 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0031100 biolink:PhenotypicFeature HP:0031169 biolink:PhenotypicFeature HP:0031507 biolink:PhenotypicFeature HP:0045025 biolink:PhenotypicFeature HP:0100716 biolink:PhenotypicFeature HP:0100739 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature Orphanet:352582 biolink:Disease Familial infantile myoclonic epilepsy HP:0001250 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0006891 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0011171 biolink:PhenotypicFeature HP:0011197 biolink:PhenotypicFeature HP:0025190 biolink:PhenotypicFeature HP:0025373 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000643 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature HP:0025100 biolink:PhenotypicFeature HP:0032388 biolink:PhenotypicFeature HP:0045084 biolink:PhenotypicFeature Orphanet:79284 biolink:Disease Methylmalonic acidemia with homocystinuria type cblF HP:0001889 biolink:PhenotypicFeature HP:0002160 biolink:PhenotypicFeature HP:0003145 biolink:PhenotypicFeature HP:0003223 biolink:PhenotypicFeature HP:0012120 biolink:PhenotypicFeature HP:0031544 biolink:PhenotypicFeature HP:0100502 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000206 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0006571 biolink:PhenotypicFeature HP:0010280 biolink:PhenotypicFeature HP:0030746 biolink:PhenotypicFeature HP:0003658 biolink:PhenotypicFeature Orphanet:254528 biolink:Disease Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion HP:0001263 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0005257 biolink:PhenotypicFeature HP:0006665 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001540 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0006267 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000884 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001239 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0002263 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005989 biolink:PhenotypicFeature HP:0010511 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0012785 biolink:PhenotypicFeature HP:0045025 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature Orphanet:96334 biolink:Disease Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0006665 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0006267 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001540 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002866 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0005257 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0011335 biolink:PhenotypicFeature HP:0011823 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000581 biolink:PhenotypicFeature HP:0000773 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000882 biolink:PhenotypicFeature HP:0000884 biolink:PhenotypicFeature HP:0000890 biolink:PhenotypicFeature HP:0000907 biolink:PhenotypicFeature HP:0000919 biolink:PhenotypicFeature HP:0000946 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0000973 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001220 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0001538 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001615 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0001840 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002057 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002307 biolink:PhenotypicFeature HP:0002557 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002694 biolink:PhenotypicFeature HP:0002884 biolink:PhenotypicFeature HP:0002937 biolink:PhenotypicFeature HP:0002982 biolink:PhenotypicFeature HP:0003049 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0004299 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004415 biolink:PhenotypicFeature HP:0005054 biolink:PhenotypicFeature HP:0005736 biolink:PhenotypicFeature HP:0005989 biolink:PhenotypicFeature HP:0006591 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007685 biolink:PhenotypicFeature HP:0009600 biolink:PhenotypicFeature HP:0009824 biolink:PhenotypicFeature HP:0009832 biolink:PhenotypicFeature HP:0009836 biolink:PhenotypicFeature HP:0010034 biolink:PhenotypicFeature HP:0010301 biolink:PhenotypicFeature HP:0010561 biolink:PhenotypicFeature HP:0010655 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0011824 biolink:PhenotypicFeature HP:0012284 biolink:PhenotypicFeature HP:0012303 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0012428 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0040024 biolink:PhenotypicFeature HP:0100864 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001548 biolink:PhenotypicFeature Orphanet:209951 biolink:Disease Autosomal recessive spastic paraplegia type 18 HP:0001249 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006466 biolink:PhenotypicFeature HP:0007350 biolink:PhenotypicFeature HP:0012453 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000574 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001583 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002166 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0003273 biolink:PhenotypicFeature HP:0003306 biolink:PhenotypicFeature HP:0005830 biolink:PhenotypicFeature HP:0005997 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0100712 biolink:PhenotypicFeature Orphanet:231568 biolink:Disease Autosomal dominant generalized dystrophic epidermolysis bullosa HP:0000987 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0001030 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0001810 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0031045 biolink:PhenotypicFeature HP:0001075 biolink:PhenotypicFeature HP:0001802 biolink:PhenotypicFeature HP:0001817 biolink:PhenotypicFeature HP:0008390 biolink:PhenotypicFeature HP:0008391 biolink:PhenotypicFeature HP:0031446 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0200097 biolink:PhenotypicFeature Orphanet:247691 biolink:Disease Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HP:0002500 biolink:PhenotypicFeature HP:0008046 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000096 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001895 biolink:PhenotypicFeature HP:0001897 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0006707 biolink:PhenotypicFeature HP:0008223 biolink:PhenotypicFeature HP:0011954 biolink:PhenotypicFeature HP:0030948 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0001009 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0002077 biolink:PhenotypicFeature HP:0002083 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002344 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0011163 biolink:PhenotypicFeature HP:0012377 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0030666 biolink:PhenotypicFeature HP:0031606 biolink:PhenotypicFeature HP:0040049 biolink:PhenotypicFeature HP:0040328 biolink:PhenotypicFeature HP:0040331 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0005743 biolink:PhenotypicFeature HP:0200030 biolink:PhenotypicFeature Orphanet:79244 biolink:Disease Pyruvate dehydrogenase E2 deficiency HP:0002355 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0100503 biolink:PhenotypicFeature HP:0500231 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000546 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002180 biolink:PhenotypicFeature HP:0002268 biolink:PhenotypicFeature HP:0002395 biolink:PhenotypicFeature HP:0002454 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0005656 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012677 biolink:PhenotypicFeature HP:0025331 biolink:PhenotypicFeature HP:0025335 biolink:PhenotypicFeature HP:0031139 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0031960 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0007994 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature Orphanet:217093 biolink:Disease Mucopolysaccharidosis type 2, attenuated form HP:0000256 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002159 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008301 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0030812 biolink:PhenotypicFeature HP:0040261 biolink:PhenotypicFeature HP:0410018 biolink:PhenotypicFeature HP:0000362 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000493 biolink:PhenotypicFeature HP:0000553 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000654 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000900 biolink:PhenotypicFeature HP:0001085 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001641 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0001702 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002176 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002781 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0004950 biolink:PhenotypicFeature HP:0005019 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0007994 biolink:PhenotypicFeature HP:0011355 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012185 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0012478 biolink:PhenotypicFeature HP:0030823 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:79243 biolink:Disease Pyruvate dehydrogenase E1-alpha deficiency HP:0001518 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0500231 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002171 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003542 biolink:PhenotypicFeature HP:0004902 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0011193 biolink:PhenotypicFeature HP:0011196 biolink:PhenotypicFeature HP:0011199 biolink:PhenotypicFeature HP:0012443 biolink:PhenotypicFeature HP:0025361 biolink:PhenotypicFeature HP:0030917 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000954 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001338 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002100 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0002350 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0006799 biolink:PhenotypicFeature HP:0006970 biolink:PhenotypicFeature HP:0006999 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0010576 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012128 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0012698 biolink:PhenotypicFeature Orphanet:166002 biolink:Disease Multiple epiphyseal dysplasia due to collagen 9 anomaly HP:0005930 biolink:PhenotypicFeature HP:0003365 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0012770 biolink:PhenotypicFeature HP:0030839 biolink:PhenotypicFeature HP:0030973 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0003028 biolink:PhenotypicFeature HP:0003045 biolink:PhenotypicFeature HP:0003946 biolink:PhenotypicFeature HP:0003999 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006055 biolink:PhenotypicFeature HP:0006190 biolink:PhenotypicFeature HP:0009189 biolink:PhenotypicFeature HP:0010631 biolink:PhenotypicFeature HP:0010665 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature Orphanet:199343 biolink:Disease EAST syndrome HP:0000127 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000848 biolink:PhenotypicFeature HP:0000859 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0002917 biolink:PhenotypicFeature HP:0005567 biolink:PhenotypicFeature HP:0012591 biolink:PhenotypicFeature HP:0012606 biolink:PhenotypicFeature HP:0030083 biolink:PhenotypicFeature HP:0200114 biolink:PhenotypicFeature HP:0000805 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002345 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0007182 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature Orphanet:280229 biolink:Disease Pelizaeus-Merzbacher disease in female carriers HP:0000639 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003429 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0007413 biolink:PhenotypicFeature HP:0010936 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0030784 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0032044 biolink:PhenotypicFeature HP:0032588 biolink:PhenotypicFeature Orphanet:280234 biolink:Disease Null syndrome HP:0003134 biolink:PhenotypicFeature HP:0003429 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0011096 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0007020 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002478 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature Orphanet:67045 biolink:Disease X-linked intellectual disability with isolated growth hormone deficiency HP:0000824 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0030353 biolink:PhenotypicFeature HP:0000570 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0007979 biolink:PhenotypicFeature HP:0010627 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0011755 biolink:PhenotypicFeature HP:0012447 biolink:PhenotypicFeature HP:0040010 biolink:PhenotypicFeature Orphanet:217085 biolink:Disease Mucopolysaccharidosis type 2, severe form HP:0002781 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0004950 biolink:PhenotypicFeature HP:0005019 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0007994 biolink:PhenotypicFeature HP:0011355 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012185 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0012478 biolink:PhenotypicFeature HP:0030823 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002159 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008301 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0000023 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000336 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0030812 biolink:PhenotypicFeature HP:0040261 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0410018 biolink:PhenotypicFeature HP:0000362 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000493 biolink:PhenotypicFeature HP:0000553 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000654 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000900 biolink:PhenotypicFeature HP:0001085 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001641 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0001702 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002176 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature Orphanet:89844 biolink:Disease Lissencephaly syndrome, Norman-Roberts type HP:0000316 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0006818 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0045028 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000340 biolink:PhenotypicFeature HP:0000341 biolink:PhenotypicFeature HP:0000350 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002648 biolink:PhenotypicFeature HP:0003808 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012736 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000479 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0006270 biolink:PhenotypicFeature Orphanet:280210 biolink:Disease Pelizaeus-Merzbacher disease, connatal form HP:0000639 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002171 biolink:PhenotypicFeature HP:0006808 biolink:PhenotypicFeature HP:0007210 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012447 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0006511 biolink:PhenotypicFeature HP:0007227 biolink:PhenotypicFeature HP:0012043 biolink:PhenotypicFeature HP:0030187 biolink:PhenotypicFeature HP:0031954 biolink:PhenotypicFeature HP:0040330 biolink:PhenotypicFeature HP:0430015 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature Orphanet:280219 biolink:Disease Pelizaeus-Merzbacher disease, classic form HP:0000639 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0006808 biolink:PhenotypicFeature HP:0011203 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0040330 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002305 biolink:PhenotypicFeature HP:0002346 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007377 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0025336 biolink:PhenotypicFeature HP:0030187 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002310 biolink:PhenotypicFeature HP:0031954 biolink:PhenotypicFeature Orphanet:280224 biolink:Disease Pelizaeus-Merzbacher disease, transitional form HP:0000639 biolink:PhenotypicFeature HP:0003429 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature Orphanet:391428 biolink:Disease HSD10 disease, infantile type HP:0002151 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0003287 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002180 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature HP:0500170 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000546 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000711 biolink:PhenotypicFeature HP:0000749 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001264 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature HP:0002370 biolink:PhenotypicFeature HP:0002421 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0002506 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0006892 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature HP:0007030 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0010936 biolink:PhenotypicFeature HP:0012707 biolink:PhenotypicFeature HP:0030391 biolink:PhenotypicFeature Orphanet:93296 biolink:Disease Achondrogenesis type 2 HP:0003026 biolink:PhenotypicFeature HP:0011849 biolink:PhenotypicFeature HP:0000201 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000773 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000946 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004605 biolink:PhenotypicFeature HP:0008788 biolink:PhenotypicFeature HP:0008828 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0030290 biolink:PhenotypicFeature HP:0031096 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0001132 biolink:PhenotypicFeature HP:0004327 biolink:PhenotypicFeature HP:0006543 biolink:PhenotypicFeature Orphanet:99843 biolink:Disease Leukocyte adhesion deficiency type II HP:0001250 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001935 biolink:PhenotypicFeature HP:0001954 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000166 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000385 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0001169 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001845 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006480 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0006895 biolink:PhenotypicFeature HP:0007041 biolink:PhenotypicFeature HP:0007333 biolink:PhenotypicFeature HP:0008551 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0010808 biolink:PhenotypicFeature HP:0011229 biolink:PhenotypicFeature HP:0011341 biolink:PhenotypicFeature HP:0020045 biolink:PhenotypicFeature HP:0031123 biolink:PhenotypicFeature HP:0031629 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0100699 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011897 biolink:PhenotypicFeature HP:0410292 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature Orphanet:391457 biolink:Disease HSD10 disease, neonatal type HP:0001250 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature HP:0500170 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0003256 biolink:PhenotypicFeature Orphanet:300373 biolink:Disease X-linked acrogigantism HP:0000098 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0000870 biolink:PhenotypicFeature HP:0012503 biolink:PhenotypicFeature HP:0030269 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0002591 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature HP:0004924 biolink:PhenotypicFeature HP:0008283 biolink:PhenotypicFeature HP:0010535 biolink:PhenotypicFeature HP:0025163 biolink:PhenotypicFeature HP:0025267 biolink:PhenotypicFeature HP:0031098 biolink:PhenotypicFeature HP:0031418 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000699 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000873 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0000956 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001833 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0011748 biolink:PhenotypicFeature HP:0012505 biolink:PhenotypicFeature HP:0040075 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:97685 biolink:Disease 17q11 microdeletion syndrome HP:0000735 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0001480 biolink:PhenotypicFeature HP:0007565 biolink:PhenotypicFeature HP:0000271 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0004562 biolink:PhenotypicFeature HP:0009732 biolink:PhenotypicFeature HP:0009737 biolink:PhenotypicFeature HP:0011442 biolink:PhenotypicFeature HP:0025105 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0200034 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000490 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000610 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000823 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0000935 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001271 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001833 biolink:PhenotypicFeature HP:0001920 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002797 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003165 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004944 biolink:PhenotypicFeature HP:0007236 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0007524 biolink:PhenotypicFeature HP:0007850 biolink:PhenotypicFeature HP:0009733 biolink:PhenotypicFeature HP:0009734 biolink:PhenotypicFeature HP:0010795 biolink:PhenotypicFeature HP:0010796 biolink:PhenotypicFeature HP:0012492 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0030692 biolink:PhenotypicFeature HP:0031023 biolink:PhenotypicFeature HP:0032458 biolink:PhenotypicFeature HP:0100008 biolink:PhenotypicFeature HP:0100697 biolink:PhenotypicFeature HP:0100817 biolink:PhenotypicFeature HP:0430022 biolink:PhenotypicFeature HP:3000062 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000465 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0001909 biolink:PhenotypicFeature HP:0002666 biolink:PhenotypicFeature HP:0002859 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0002979 biolink:PhenotypicFeature HP:0003001 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0100252 biolink:PhenotypicFeature HP:0100723 biolink:PhenotypicFeature HP:0100775 biolink:PhenotypicFeature Orphanet:90307 biolink:Disease Parkes Weber syndrome HP:0002814 biolink:PhenotypicFeature HP:0100026 biolink:PhenotypicFeature HP:0001722 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0002619 biolink:PhenotypicFeature HP:0004947 biolink:PhenotypicFeature HP:0004948 biolink:PhenotypicFeature HP:0007394 biolink:PhenotypicFeature HP:0008968 biolink:PhenotypicFeature HP:0012721 biolink:PhenotypicFeature HP:0025104 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0032555 biolink:PhenotypicFeature HP:0100553 biolink:PhenotypicFeature HP:0100784 biolink:PhenotypicFeature HP:0000016 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002138 biolink:PhenotypicFeature HP:0002196 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002390 biolink:PhenotypicFeature HP:0002408 biolink:PhenotypicFeature HP:0002817 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature HP:0006489 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0010484 biolink:PhenotypicFeature HP:0012514 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0030833 biolink:PhenotypicFeature HP:0031138 biolink:PhenotypicFeature HP:0031939 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0100766 biolink:PhenotypicFeature HP:0100775 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0007461 biolink:PhenotypicFeature HP:0010550 biolink:PhenotypicFeature Orphanet:300605 biolink:Disease Juvenile amyotrophic lateral sclerosis HP:0001324 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0006986 biolink:PhenotypicFeature HP:0007354 biolink:PhenotypicFeature HP:0001264 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002483 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003429 biolink:PhenotypicFeature HP:0005750 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0031960 biolink:PhenotypicFeature HP:0100295 biolink:PhenotypicFeature HP:0100360 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000605 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002179 biolink:PhenotypicFeature HP:0002425 biolink:PhenotypicFeature HP:0002530 biolink:PhenotypicFeature HP:0002544 biolink:PhenotypicFeature HP:0002599 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0003722 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0012048 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:139396 biolink:Disease X-linked cerebral adrenoleukodystrophy HP:0003089 biolink:PhenotypicFeature HP:0007034 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0010527 biolink:PhenotypicFeature HP:0010794 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0030222 biolink:PhenotypicFeature HP:0031993 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0045084 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0031358 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0004359 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0012501 biolink:PhenotypicFeature HP:0000026 biolink:PhenotypicFeature HP:0000317 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002186 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0002196 biolink:PhenotypicFeature HP:0007162 biolink:PhenotypicFeature HP:0007305 biolink:PhenotypicFeature HP:0008163 biolink:PhenotypicFeature HP:0008167 biolink:PhenotypicFeature HP:0008207 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002143 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature Orphanet:411543 biolink:Disease Severe phosphoribosylpyrophosphate synthetase superactivity HP:0000791 biolink:PhenotypicFeature HP:0001997 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0003149 biolink:PhenotypicFeature HP:0003240 biolink:PhenotypicFeature HP:0012759 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0012611 biolink:PhenotypicFeature HP:0020074 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0007178 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature Orphanet:306617 biolink:Disease X-linked complicated spastic paraplegia type 1 HP:0001258 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature Orphanet:255138 biolink:Disease Pyruvate dehydrogenase E1-beta deficiency HP:0001252 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002648 biolink:PhenotypicFeature HP:0002928 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002365 biolink:PhenotypicFeature HP:0006970 biolink:PhenotypicFeature HP:0007016 biolink:PhenotypicFeature HP:0007109 biolink:PhenotypicFeature HP:0007165 biolink:PhenotypicFeature HP:0007772 biolink:PhenotypicFeature HP:0200012 biolink:PhenotypicFeature Orphanet:79246 biolink:Disease Pyruvate dehydrogenase phosphatase deficiency HP:0002928 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003348 biolink:PhenotypicFeature HP:0003648 biolink:PhenotypicFeature HP:0008358 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0040328 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature Orphanet:411536 biolink:Disease Mild phosphoribosylpyrophosphate synthetase superactivity HP:0002149 biolink:PhenotypicFeature HP:0003149 biolink:PhenotypicFeature HP:0003240 biolink:PhenotypicFeature HP:0012611 biolink:PhenotypicFeature HP:0000791 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0020074 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0012626 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature Orphanet:255182 biolink:Disease Pyruvate dehydrogenase E3-binding protein deficiency HP:0002151 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0500231 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001264 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0002928 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0010915 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature HP:0007109 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature Orphanet:1865 biolink:Disease Dyssegmental dysplasia, Silverman-Handmaker type HP:0000470 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002879 biolink:PhenotypicFeature HP:0002979 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0040064 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000773 biolink:PhenotypicFeature HP:0000946 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001059 biolink:PhenotypicFeature HP:0001195 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0003173 biolink:PhenotypicFeature HP:0003175 biolink:PhenotypicFeature HP:0005622 biolink:PhenotypicFeature HP:0032548 biolink:PhenotypicFeature HP:0100759 biolink:PhenotypicFeature Orphanet:1830 biolink:Disease Schimke immuno-osseous dysplasia HP:0000093 biolink:PhenotypicFeature HP:0000097 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0003368 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0031409 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001003 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002621 biolink:PhenotypicFeature HP:0002637 biolink:PhenotypicFeature HP:0002655 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002926 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0003182 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0003300 biolink:PhenotypicFeature HP:0003521 biolink:PhenotypicFeature HP:0005352 biolink:PhenotypicFeature HP:0005435 biolink:PhenotypicFeature HP:0008784 biolink:PhenotypicFeature HP:0008839 biolink:PhenotypicFeature HP:0012593 biolink:PhenotypicFeature HP:0410373 biolink:PhenotypicFeature HP:0410377 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002140 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0002907 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0004931 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006344 biolink:PhenotypicFeature HP:0006813 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0012579 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0002242 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0005523 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0012539 biolink:PhenotypicFeature Orphanet:93284 biolink:Disease Spondyloepiphyseal dysplasia tarda HP:0000926 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001552 biolink:PhenotypicFeature HP:0002654 biolink:PhenotypicFeature HP:0003051 biolink:PhenotypicFeature HP:0003088 biolink:PhenotypicFeature HP:0003521 biolink:PhenotypicFeature HP:0004594 biolink:PhenotypicFeature HP:0005775 biolink:PhenotypicFeature HP:0012771 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001386 biolink:PhenotypicFeature HP:0002763 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002945 biolink:PhenotypicFeature HP:0003043 biolink:PhenotypicFeature HP:0003365 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003855 biolink:PhenotypicFeature HP:0005086 biolink:PhenotypicFeature HP:0008843 biolink:PhenotypicFeature HP:0010656 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0030839 biolink:PhenotypicFeature HP:0100569 biolink:PhenotypicFeature HP:0100712 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0002942 biolink:PhenotypicFeature HP:0002996 biolink:PhenotypicFeature HP:0003311 biolink:PhenotypicFeature HP:0003832 biolink:PhenotypicFeature HP:0004586 biolink:PhenotypicFeature HP:0004637 biolink:PhenotypicFeature HP:0006233 biolink:PhenotypicFeature HP:0006248 biolink:PhenotypicFeature HP:0006467 biolink:PhenotypicFeature HP:0008812 biolink:PhenotypicFeature HP:0009763 biolink:PhenotypicFeature HP:0010231 biolink:PhenotypicFeature HP:0010575 biolink:PhenotypicFeature HP:0025131 biolink:PhenotypicFeature HP:0025263 biolink:PhenotypicFeature HP:0040161 biolink:PhenotypicFeature HP:0100864 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0012649 biolink:PhenotypicFeature HP:0100769 biolink:PhenotypicFeature Orphanet:2619 biolink:Disease Brachydactylous dwarfism, Mseleni type HP:0000926 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002654 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003028 biolink:PhenotypicFeature HP:0003368 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0005086 biolink:PhenotypicFeature HP:0005872 biolink:PhenotypicFeature HP:0008843 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003940 biolink:PhenotypicFeature HP:0009742 biolink:PhenotypicFeature HP:0032153 biolink:PhenotypicFeature HP:0003179 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0012649 biolink:PhenotypicFeature Orphanet:567983 biolink:Disease Parenteral nutrition-associated cholestasis HP:0000952 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0004359 biolink:PhenotypicFeature HP:0006560 biolink:PhenotypicFeature HP:0011113 biolink:PhenotypicFeature HP:0011473 biolink:PhenotypicFeature HP:0030948 biolink:PhenotypicFeature HP:0032245 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0002908 biolink:PhenotypicFeature Orphanet:568051 biolink:Disease GJC2-related late-onset primary lymphedema HP:0001785 biolink:PhenotypicFeature HP:0003550 biolink:PhenotypicFeature HP:0003759 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0100766 biolink:PhenotypicFeature HP:0000282 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0002619 biolink:PhenotypicFeature HP:0005293 biolink:PhenotypicFeature HP:0007514 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0031188 biolink:PhenotypicFeature Orphanet:1675 biolink:Disease Dihydropyrimidine dehydrogenase deficiency HP:0003654 biolink:PhenotypicFeature HP:0012127 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010841 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000684 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001104 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001799 biolink:PhenotypicFeature HP:0002002 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002187 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002656 biolink:PhenotypicFeature HP:0002983 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0005274 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006191 biolink:PhenotypicFeature HP:0006863 biolink:PhenotypicFeature HP:0006919 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0009748 biolink:PhenotypicFeature HP:0011153 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0030939 biolink:PhenotypicFeature Orphanet:2131 biolink:Disease Alternating hemiplegia of childhood HP:0002579 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0012194 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0011499 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0012547 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0031284 biolink:PhenotypicFeature HP:0200136 biolink:PhenotypicFeature HP:0000297 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002263 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002344 biolink:PhenotypicFeature HP:0002483 biolink:PhenotypicFeature HP:0002714 biolink:PhenotypicFeature HP:0002835 biolink:PhenotypicFeature HP:0005135 biolink:PhenotypicFeature HP:0007166 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0011153 biolink:PhenotypicFeature HP:0031546 biolink:PhenotypicFeature HP:0031931 biolink:PhenotypicFeature HP:0032649 biolink:PhenotypicFeature HP:0045074 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature Orphanet:356 biolink:Disease Gerstmann-Straussler-Scheinker syndrome HP:0002066 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0012534 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0002062 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0011730 biolink:PhenotypicFeature HP:0031006 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0045084 biolink:PhenotypicFeature Orphanet:2357 biolink:Disease Bronchogenic cyst HP:0100730 biolink:PhenotypicFeature HP:0031983 biolink:PhenotypicFeature HP:0045026 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002031 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0003319 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0031035 biolink:PhenotypicFeature HP:0032016 biolink:PhenotypicFeature HP:0032445 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0000464 biolink:PhenotypicFeature HP:0000775 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001637 biolink:PhenotypicFeature HP:0001697 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002103 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002577 biolink:PhenotypicFeature HP:0002585 biolink:PhenotypicFeature HP:0002699 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0010766 biolink:PhenotypicFeature HP:0030833 biolink:PhenotypicFeature HP:0100712 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature Orphanet:1329 biolink:Disease Complete atrioventricular septal defect HP:0001674 biolink:PhenotypicFeature HP:0010445 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0003115 biolink:PhenotypicFeature HP:0005120 biolink:PhenotypicFeature HP:0012382 biolink:PhenotypicFeature HP:0025447 biolink:PhenotypicFeature HP:0030950 biolink:PhenotypicFeature HP:0030973 biolink:PhenotypicFeature HP:0031650 biolink:PhenotypicFeature HP:0031664 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001667 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0030864 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001678 biolink:PhenotypicFeature HP:0004890 biolink:PhenotypicFeature HP:0011712 biolink:PhenotypicFeature HP:0030830 biolink:PhenotypicFeature HP:0030848 biolink:PhenotypicFeature HP:0031595 biolink:PhenotypicFeature HP:0031658 biolink:PhenotypicFeature HP:0100786 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature Orphanet:330 biolink:Disease Congenital factor XII deficiency HP:0003645 biolink:PhenotypicFeature HP:0004841 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature HP:0001977 biolink:PhenotypicFeature HP:0007985 biolink:PhenotypicFeature HP:0012636 biolink:PhenotypicFeature HP:0200067 biolink:PhenotypicFeature HP:0001026 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature Orphanet:93356 biolink:Disease Spondyloepimetaphyseal dysplasia, Missouri type HP:0002970 biolink:PhenotypicFeature HP:0002980 biolink:PhenotypicFeature HP:0002982 biolink:PhenotypicFeature HP:0003015 biolink:PhenotypicFeature HP:0003025 biolink:PhenotypicFeature HP:0003071 biolink:PhenotypicFeature HP:0003498 biolink:PhenotypicFeature HP:0004566 biolink:PhenotypicFeature HP:0005086 biolink:PhenotypicFeature HP:0006385 biolink:PhenotypicFeature HP:0010585 biolink:PhenotypicFeature HP:0025369 biolink:PhenotypicFeature Orphanet:93352 biolink:Disease Spondyloepimetaphyseal dysplasia, Shohat type HP:0000926 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003015 biolink:PhenotypicFeature HP:0003016 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003088 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0003498 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0005257 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006462 biolink:PhenotypicFeature HP:0008463 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001602 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0002663 biolink:PhenotypicFeature HP:0002777 biolink:PhenotypicFeature HP:0002781 biolink:PhenotypicFeature HP:0002953 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0002979 biolink:PhenotypicFeature HP:0003025 biolink:PhenotypicFeature HP:0003099 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0008418 biolink:PhenotypicFeature HP:0008450 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0025426 biolink:PhenotypicFeature Orphanet:17 biolink:Disease Fatal infantile lactic acidosis with methylmalonic aciduria HP:0002912 biolink:PhenotypicFeature HP:0012120 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0003535 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0012751 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0008347 biolink:PhenotypicFeature HP:0011923 biolink:PhenotypicFeature HP:0011924 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002352 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002487 biolink:PhenotypicFeature HP:0003200 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0003557 biolink:PhenotypicFeature HP:0012087 biolink:PhenotypicFeature HP:0012240 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0003097 biolink:PhenotypicFeature HP:0003219 biolink:PhenotypicFeature HP:0004742 biolink:PhenotypicFeature HP:0005792 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature HP:0011611 biolink:PhenotypicFeature Orphanet:93357 biolink:Disease SPONASTRIME dysplasia HP:0000925 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0003025 biolink:PhenotypicFeature HP:0004586 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0031367 biolink:PhenotypicFeature HP:0100864 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000303 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000691 biolink:PhenotypicFeature HP:0000696 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0001169 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001377 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001607 biolink:PhenotypicFeature HP:0001621 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0001769 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002663 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002761 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0003015 biolink:PhenotypicFeature HP:0003016 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003027 biolink:PhenotypicFeature HP:0003182 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003370 biolink:PhenotypicFeature HP:0003895 biolink:PhenotypicFeature HP:0004279 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004482 biolink:PhenotypicFeature HP:0004603 biolink:PhenotypicFeature HP:0004646 biolink:PhenotypicFeature HP:0004944 biolink:PhenotypicFeature HP:0005446 biolink:PhenotypicFeature HP:0005743 biolink:PhenotypicFeature HP:0006336 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature HP:0007707 biolink:PhenotypicFeature HP:0010234 biolink:PhenotypicFeature HP:0010585 biolink:PhenotypicFeature HP:0010740 biolink:PhenotypicFeature HP:0010941 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0025492 biolink:PhenotypicFeature HP:0030043 biolink:PhenotypicFeature HP:0030833 biolink:PhenotypicFeature HP:0030834 biolink:PhenotypicFeature HP:0030839 biolink:PhenotypicFeature HP:0040221 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature Orphanet:133 biolink:Disease Chronic beryllium disease HP:0005952 biolink:PhenotypicFeature HP:0006516 biolink:PhenotypicFeature HP:0100326 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0005607 biolink:PhenotypicFeature HP:0006527 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025179 biolink:PhenotypicFeature HP:0025393 biolink:PhenotypicFeature HP:0025439 biolink:PhenotypicFeature HP:0030877 biolink:PhenotypicFeature HP:0030878 biolink:PhenotypicFeature HP:0031392 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature HP:0011121 biolink:PhenotypicFeature Orphanet:1041 biolink:Disease Hydrops fetalis HP:0000464 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001790 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0030005 biolink:PhenotypicFeature HP:0032548 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001871 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0007430 biolink:PhenotypicFeature HP:0030680 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0031110 biolink:PhenotypicFeature HP:0100763 biolink:PhenotypicFeature Orphanet:3235 biolink:Disease Progressive deafness with stapes fixation HP:0000381 biolink:PhenotypicFeature HP:0008513 biolink:PhenotypicFeature Orphanet:3384 biolink:Disease Truncus arteriosus HP:0001660 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0031653 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001667 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0011660 biolink:PhenotypicFeature HP:0012020 biolink:PhenotypicFeature HP:0000778 biolink:PhenotypicFeature HP:0000849 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0004415 biolink:PhenotypicFeature HP:0004935 biolink:PhenotypicFeature HP:0005301 biolink:PhenotypicFeature HP:0006704 biolink:PhenotypicFeature HP:0011611 biolink:PhenotypicFeature HP:0011640 biolink:PhenotypicFeature HP:0025575 biolink:PhenotypicFeature HP:0031014 biolink:PhenotypicFeature HP:0045060 biolink:PhenotypicFeature HP:0100598 biolink:PhenotypicFeature HP:0001669 biolink:PhenotypicFeature HP:0004971 biolink:PhenotypicFeature HP:0031635 biolink:PhenotypicFeature Orphanet:1136 biolink:Disease Arnold-Chiari malformation type II HP:0000238 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001612 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002385 biolink:PhenotypicFeature HP:0002410 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0002512 biolink:PhenotypicFeature HP:0002539 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0005348 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0009130 biolink:PhenotypicFeature HP:0010550 biolink:PhenotypicFeature HP:0011441 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0040010 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001338 biolink:PhenotypicFeature HP:0002179 biolink:PhenotypicFeature Orphanet:1344 biolink:Disease Atrial standstill HP:0001962 biolink:PhenotypicFeature HP:0005155 biolink:PhenotypicFeature HP:0025478 biolink:PhenotypicFeature HP:0031546 biolink:PhenotypicFeature HP:0031595 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0003560 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011704 biolink:PhenotypicFeature HP:0011712 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012664 biolink:PhenotypicFeature HP:0030682 biolink:PhenotypicFeature HP:0030973 biolink:PhenotypicFeature HP:0410174 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002140 biolink:PhenotypicFeature HP:0002301 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002381 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0004756 biolink:PhenotypicFeature HP:0011707 biolink:PhenotypicFeature Orphanet:93360 biolink:Disease Spondyloepimetaphyseal dysplasia with multiple dislocations HP:0001388 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002656 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001238 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001602 biolink:PhenotypicFeature HP:0001832 biolink:PhenotypicFeature HP:0002651 biolink:PhenotypicFeature HP:0002663 biolink:PhenotypicFeature HP:0002761 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0003025 biolink:PhenotypicFeature HP:0003088 biolink:PhenotypicFeature HP:0006014 biolink:PhenotypicFeature HP:0006236 biolink:PhenotypicFeature HP:0008755 biolink:PhenotypicFeature HP:0008857 biolink:PhenotypicFeature HP:0009815 biolink:PhenotypicFeature HP:0010674 biolink:PhenotypicFeature HP:0012095 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0031367 biolink:PhenotypicFeature HP:0040064 biolink:PhenotypicFeature HP:0100168 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003048 biolink:PhenotypicFeature HP:0003370 biolink:PhenotypicFeature HP:0004875 biolink:PhenotypicFeature HP:0005619 biolink:PhenotypicFeature HP:0006536 biolink:PhenotypicFeature HP:0030043 biolink:PhenotypicFeature Orphanet:1143 biolink:Disease Neurogenic arthrogryposis multiplex congenita HP:0001371 biolink:PhenotypicFeature HP:0003444 biolink:PhenotypicFeature HP:0001239 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006466 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001623 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0002058 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002747 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0003273 biolink:PhenotypicFeature HP:0007477 biolink:PhenotypicFeature HP:0008110 biolink:PhenotypicFeature HP:0008807 biolink:PhenotypicFeature HP:0010781 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0030799 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature Orphanet:166011 biolink:Disease Multiple epiphyseal dysplasia, Beighton type HP:0002654 biolink:PhenotypicFeature HP:0004586 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001384 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002945 biolink:PhenotypicFeature HP:0003170 biolink:PhenotypicFeature HP:0003365 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004592 biolink:PhenotypicFeature HP:0005054 biolink:PhenotypicFeature HP:0005787 biolink:PhenotypicFeature HP:0008812 biolink:PhenotypicFeature HP:0030839 biolink:PhenotypicFeature HP:0031955 biolink:PhenotypicFeature HP:0100864 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002943 biolink:PhenotypicFeature HP:0003370 biolink:PhenotypicFeature HP:0003419 biolink:PhenotypicFeature HP:0003888 biolink:PhenotypicFeature HP:0005923 biolink:PhenotypicFeature HP:0006019 biolink:PhenotypicFeature HP:0006508 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0011911 biolink:PhenotypicFeature HP:0030329 biolink:PhenotypicFeature HP:0030672 biolink:PhenotypicFeature HP:0031174 biolink:PhenotypicFeature HP:0100712 biolink:PhenotypicFeature Orphanet:3124 biolink:Disease Saccharopinuria HP:0002161 biolink:PhenotypicFeature HP:0011021 biolink:PhenotypicFeature HP:0001507 biolink:PhenotypicFeature HP:0003297 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001264 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003131 biolink:PhenotypicFeature HP:0011966 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0032397 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0500151 biolink:PhenotypicFeature Orphanet:941 biolink:Disease D-glyceric aciduria HP:0001942 biolink:PhenotypicFeature HP:0002448 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002154 biolink:PhenotypicFeature HP:0003108 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature HP:0030781 biolink:PhenotypicFeature HP:0500230 biolink:PhenotypicFeature HP:0000253 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0007185 biolink:PhenotypicFeature HP:0008288 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0012736 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature Orphanet:566 biolink:Disease Congenital microcoria HP:0007695 biolink:PhenotypicFeature HP:0007730 biolink:PhenotypicFeature HP:0007990 biolink:PhenotypicFeature HP:0012805 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0007906 biolink:PhenotypicFeature HP:0012047 biolink:PhenotypicFeature HP:0012108 biolink:PhenotypicFeature HP:0031730 biolink:PhenotypicFeature HP:0100018 biolink:PhenotypicFeature HP:0000485 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0012040 biolink:PhenotypicFeature Orphanet:2056 biolink:Disease Essential fructosuria HP:0011033 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0010969 biolink:PhenotypicFeature HP:0030272 biolink:PhenotypicFeature HP:0031979 biolink:PhenotypicFeature HP:0003074 biolink:PhenotypicFeature Orphanet:2203 biolink:Disease Hyperlysinemia HP:0000252 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002161 biolink:PhenotypicFeature HP:0003131 biolink:PhenotypicFeature HP:0003268 biolink:PhenotypicFeature HP:0003297 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010850 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0012403 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature HP:0500163 biolink:PhenotypicFeature HP:0500204 biolink:PhenotypicFeature HP:0500208 biolink:PhenotypicFeature HP:0500243 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000457 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000601 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001264 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001310 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002179 biolink:PhenotypicFeature HP:0002275 biolink:PhenotypicFeature HP:0002312 biolink:PhenotypicFeature HP:0004971 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0006889 biolink:PhenotypicFeature HP:0008589 biolink:PhenotypicFeature HP:0009739 biolink:PhenotypicFeature HP:0011171 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0025331 biolink:PhenotypicFeature HP:0030051 biolink:PhenotypicFeature HP:0031867 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0045074 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:1145 biolink:Disease Infantile-onset X-linked spinal muscular atrophy HP:0001284 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002398 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003445 biolink:PhenotypicFeature HP:0004303 biolink:PhenotypicFeature HP:0006802 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000773 biolink:PhenotypicFeature HP:0000887 biolink:PhenotypicFeature HP:0001220 biolink:PhenotypicFeature HP:0002058 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002425 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003273 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006466 biolink:PhenotypicFeature HP:0007269 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0009071 biolink:PhenotypicFeature HP:0020110 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001308 biolink:PhenotypicFeature HP:0002009 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0007178 biolink:PhenotypicFeature HP:0008180 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:93307 biolink:Disease Multiple epiphyseal dysplasia type 4 HP:0002652 biolink:PhenotypicFeature HP:0002654 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001776 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0003071 biolink:PhenotypicFeature HP:0003088 biolink:PhenotypicFeature HP:0003365 biolink:PhenotypicFeature HP:0003498 biolink:PhenotypicFeature HP:0005616 biolink:PhenotypicFeature HP:0008807 biolink:PhenotypicFeature HP:0008848 biolink:PhenotypicFeature HP:0009824 biolink:PhenotypicFeature HP:0030289 biolink:PhenotypicFeature HP:0031174 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000363 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0001440 biolink:PhenotypicFeature HP:0001769 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002947 biolink:PhenotypicFeature HP:0002986 biolink:PhenotypicFeature HP:0003016 biolink:PhenotypicFeature HP:0003031 biolink:PhenotypicFeature HP:0004002 biolink:PhenotypicFeature HP:0004037 biolink:PhenotypicFeature HP:0005922 biolink:PhenotypicFeature HP:0006429 biolink:PhenotypicFeature HP:0008434 biolink:PhenotypicFeature HP:0008826 biolink:PhenotypicFeature HP:0008829 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0009381 biolink:PhenotypicFeature HP:0009471 biolink:PhenotypicFeature HP:0009487 biolink:PhenotypicFeature HP:0009778 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010743 biolink:PhenotypicFeature HP:0025264 biolink:PhenotypicFeature HP:0031006 biolink:PhenotypicFeature HP:0031878 biolink:PhenotypicFeature HP:0032649 biolink:PhenotypicFeature HP:0040072 biolink:PhenotypicFeature HP:0040111 biolink:PhenotypicFeature HP:0100864 biolink:PhenotypicFeature Orphanet:93314 biolink:Disease Spondylometaphyseal dysplasia, Kozlowski type HP:0000925 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002663 biolink:PhenotypicFeature HP:0003521 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001248 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001498 biolink:PhenotypicFeature HP:0001831 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002867 biolink:PhenotypicFeature HP:0002869 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0003016 biolink:PhenotypicFeature HP:0003088 biolink:PhenotypicFeature HP:0003170 biolink:PhenotypicFeature HP:0003177 biolink:PhenotypicFeature HP:0003336 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0005819 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0010743 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0000914 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0002942 biolink:PhenotypicFeature HP:0002986 biolink:PhenotypicFeature HP:0003059 biolink:PhenotypicFeature HP:0003121 biolink:PhenotypicFeature HP:0003180 biolink:PhenotypicFeature HP:0003185 biolink:PhenotypicFeature HP:0003311 biolink:PhenotypicFeature HP:0003417 biolink:PhenotypicFeature HP:0003907 biolink:PhenotypicFeature HP:0004558 biolink:PhenotypicFeature HP:0008422 biolink:PhenotypicFeature HP:0010228 biolink:PhenotypicFeature HP:0030289 biolink:PhenotypicFeature HP:0030320 biolink:PhenotypicFeature HP:0100864 biolink:PhenotypicFeature Orphanet:85167 biolink:Disease Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome HP:0000505 biolink:PhenotypicFeature HP:0000548 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002979 biolink:PhenotypicFeature HP:0003015 biolink:PhenotypicFeature HP:0003025 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003300 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0005054 biolink:PhenotypicFeature HP:0005930 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0009803 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010583 biolink:PhenotypicFeature HP:0030329 biolink:PhenotypicFeature HP:0000539 biolink:PhenotypicFeature HP:0000887 biolink:PhenotypicFeature HP:0000946 biolink:PhenotypicFeature HP:0003375 biolink:PhenotypicFeature HP:0031171 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001105 biolink:PhenotypicFeature HP:0001132 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0007401 biolink:PhenotypicFeature HP:0007688 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0009918 biolink:PhenotypicFeature HP:0012153 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:3092 biolink:Disease Fixed subaortic stenosis HP:0001627 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0031664 biolink:PhenotypicFeature HP:0031668 biolink:PhenotypicFeature HP:0032092 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0004757 biolink:PhenotypicFeature HP:0004970 biolink:PhenotypicFeature HP:0006689 biolink:PhenotypicFeature HP:0006695 biolink:PhenotypicFeature HP:0012764 biolink:PhenotypicFeature HP:0030950 biolink:PhenotypicFeature HP:0030973 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:2299 biolink:Disease Aortic arch interruption HP:0030148 biolink:PhenotypicFeature HP:0032092 biolink:PhenotypicFeature HP:0032554 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0020142 biolink:PhenotypicFeature HP:0030973 biolink:PhenotypicFeature HP:0031273 biolink:PhenotypicFeature HP:0031664 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001660 biolink:PhenotypicFeature HP:0001669 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0004417 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0011604 biolink:PhenotypicFeature HP:0011712 biolink:PhenotypicFeature HP:0031784 biolink:PhenotypicFeature HP:0001719 biolink:PhenotypicFeature HP:0001750 biolink:PhenotypicFeature HP:0010883 biolink:PhenotypicFeature Orphanet:439 biolink:Disease Isolated right ventricular hypoplasia HP:0005180 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030718 biolink:PhenotypicFeature HP:0031664 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0005150 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001694 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0001217 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0011623 biolink:PhenotypicFeature HP:0011712 biolink:PhenotypicFeature HP:0012383 biolink:PhenotypicFeature Orphanet:2041 biolink:Disease Coronary arterial fistula HP:0001635 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0003115 biolink:PhenotypicFeature HP:0005162 biolink:PhenotypicFeature HP:0031664 biolink:PhenotypicFeature HP:0031670 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0005133 biolink:PhenotypicFeature HP:0006689 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012764 biolink:PhenotypicFeature HP:0030848 biolink:PhenotypicFeature HP:0030882 biolink:PhenotypicFeature Orphanet:1686 biolink:Disease Cardiac diverticulum HP:0001647 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001663 biolink:PhenotypicFeature HP:0001718 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature HP:0004756 biolink:PhenotypicFeature HP:0005182 biolink:PhenotypicFeature HP:0010446 biolink:PhenotypicFeature HP:0011636 biolink:PhenotypicFeature HP:0011662 biolink:PhenotypicFeature HP:0100584 biolink:PhenotypicFeature HP:0003115 biolink:PhenotypicFeature HP:0000775 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001537 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001540 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001651 biolink:PhenotypicFeature HP:0001669 biolink:PhenotypicFeature HP:0001679 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0004415 biolink:PhenotypicFeature HP:0004971 biolink:PhenotypicFeature HP:0005301 biolink:PhenotypicFeature HP:0006682 biolink:PhenotypicFeature HP:0006714 biolink:PhenotypicFeature HP:0010773 biolink:PhenotypicFeature HP:0010866 biolink:PhenotypicFeature HP:0011628 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature Orphanet:980 biolink:Disease Absence of the pulmonary artery HP:0001627 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0003115 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0012417 biolink:PhenotypicFeature HP:0031983 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001660 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0004749 biolink:PhenotypicFeature HP:0005110 biolink:PhenotypicFeature HP:0006704 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0012020 biolink:PhenotypicFeature HP:0012664 biolink:PhenotypicFeature HP:0012764 biolink:PhenotypicFeature HP:0025576 biolink:PhenotypicFeature HP:0031246 biolink:PhenotypicFeature HP:0031664 biolink:PhenotypicFeature HP:0040045 biolink:PhenotypicFeature HP:0100598 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:2133 biolink:Disease Hemoglobin E disease HP:0004840 biolink:PhenotypicFeature HP:0010972 biolink:PhenotypicFeature HP:0011902 biolink:PhenotypicFeature HP:0020059 biolink:PhenotypicFeature HP:0025066 biolink:PhenotypicFeature HP:0032231 biolink:PhenotypicFeature HP:0011905 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0004817 biolink:PhenotypicFeature HP:0005546 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature Orphanet:1320 biolink:Disease Idiopathic camptocormia HP:0000707 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0003445 biolink:PhenotypicFeature HP:0003458 biolink:PhenotypicFeature HP:0005108 biolink:PhenotypicFeature HP:0100285 biolink:PhenotypicFeature HP:0000234 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003444 biolink:PhenotypicFeature HP:0006959 biolink:PhenotypicFeature HP:0007354 biolink:PhenotypicFeature HP:0012647 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0002134 biolink:PhenotypicFeature HP:0002145 biolink:PhenotypicFeature HP:0002486 biolink:PhenotypicFeature HP:0002511 biolink:PhenotypicFeature HP:0002715 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0003398 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0003737 biolink:PhenotypicFeature HP:0007361 biolink:PhenotypicFeature HP:0012486 biolink:PhenotypicFeature HP:0012548 biolink:PhenotypicFeature HP:0030113 biolink:PhenotypicFeature HP:0030197 biolink:PhenotypicFeature HP:0100315 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature Orphanet:656 biolink:Disease Genetic steroid-resistant nephrotic syndrome HP:0000093 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000097 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0100539 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001967 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0012579 biolink:PhenotypicFeature HP:0031504 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature Orphanet:860 biolink:Disease Congenitally uncorrected transposition of the great arteries HP:0000961 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001693 biolink:PhenotypicFeature HP:0011028 biolink:PhenotypicFeature HP:0011563 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001633 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001641 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001667 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0006704 biolink:PhenotypicFeature HP:0010772 biolink:PhenotypicFeature HP:0012303 biolink:PhenotypicFeature HP:0025074 biolink:PhenotypicFeature HP:0031348 biolink:PhenotypicFeature HP:0031349 biolink:PhenotypicFeature HP:0032092 biolink:PhenotypicFeature HP:0200128 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0011611 biolink:PhenotypicFeature HP:0012304 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature HP:0011438 biolink:PhenotypicFeature Orphanet:737 biolink:Disease Porokeratosis plantaris palmaris et disseminata HP:0000972 biolink:PhenotypicFeature HP:0025528 biolink:PhenotypicFeature HP:0040211 biolink:PhenotypicFeature HP:0045059 biolink:PhenotypicFeature HP:0100872 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature HP:0200044 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0002814 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature Orphanet:168549 biolink:Disease Axial spondylometaphyseal dysplasia HP:0000510 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000773 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0000886 biolink:PhenotypicFeature HP:0000887 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0002867 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0005257 biolink:PhenotypicFeature HP:0006431 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0008786 biolink:PhenotypicFeature HP:0009824 biolink:PhenotypicFeature HP:0045027 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0003411 biolink:PhenotypicFeature HP:0005916 biolink:PhenotypicFeature HP:0006589 biolink:PhenotypicFeature HP:0006603 biolink:PhenotypicFeature HP:0006712 biolink:PhenotypicFeature HP:0008515 biolink:PhenotypicFeature HP:0008812 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0012774 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001216 biolink:PhenotypicFeature HP:0001530 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002866 biolink:PhenotypicFeature HP:0002943 biolink:PhenotypicFeature HP:0003086 biolink:PhenotypicFeature HP:0003180 biolink:PhenotypicFeature HP:0003375 biolink:PhenotypicFeature HP:0003521 biolink:PhenotypicFeature HP:0007641 biolink:PhenotypicFeature HP:0007769 biolink:PhenotypicFeature HP:0008444 biolink:PhenotypicFeature HP:0100864 biolink:PhenotypicFeature Orphanet:93316 biolink:Disease Spondylometaphyseal dysplasia, Schmidt type HP:0000925 biolink:PhenotypicFeature HP:0000944 biolink:PhenotypicFeature HP:0100255 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001385 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002867 biolink:PhenotypicFeature HP:0003375 biolink:PhenotypicFeature HP:0003510 biolink:PhenotypicFeature HP:0003521 biolink:PhenotypicFeature HP:0010574 biolink:PhenotypicFeature HP:0100866 biolink:PhenotypicFeature HP:0000185 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000402 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0003019 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003796 biolink:PhenotypicFeature HP:0008833 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0100864 biolink:PhenotypicFeature Orphanet:93315 biolink:Disease Spondylometaphyseal dysplasia, 'corner fracture' type HP:0002812 biolink:PhenotypicFeature HP:0003025 biolink:PhenotypicFeature HP:0003300 biolink:PhenotypicFeature HP:0003468 biolink:PhenotypicFeature HP:0003908 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003521 biolink:PhenotypicFeature HP:0006385 biolink:PhenotypicFeature HP:0009763 biolink:PhenotypicFeature HP:0009824 biolink:PhenotypicFeature HP:0011849 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000307 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000384 biolink:PhenotypicFeature HP:0000385 biolink:PhenotypicFeature HP:0000411 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0002945 biolink:PhenotypicFeature HP:0002948 biolink:PhenotypicFeature HP:0002982 biolink:PhenotypicFeature HP:0004586 biolink:PhenotypicFeature HP:0004625 biolink:PhenotypicFeature HP:0008417 biolink:PhenotypicFeature HP:0008422 biolink:PhenotypicFeature HP:0008577 biolink:PhenotypicFeature HP:0009896 biolink:PhenotypicFeature HP:0012368 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001891 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0002866 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0005743 biolink:PhenotypicFeature HP:0007906 biolink:PhenotypicFeature HP:0008440 biolink:PhenotypicFeature HP:0009882 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0031427 biolink:PhenotypicFeature HP:0032208 biolink:PhenotypicFeature Orphanet:99826 biolink:Disease Marburg hemorrhagic fever HP:0002716 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002900 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003256 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003645 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0011029 biolink:PhenotypicFeature HP:0011151 biolink:PhenotypicFeature HP:0011896 biolink:PhenotypicFeature HP:0012534 biolink:PhenotypicFeature HP:0025085 biolink:PhenotypicFeature HP:0030139 biolink:PhenotypicFeature HP:0031246 biolink:PhenotypicFeature HP:0031273 biolink:PhenotypicFeature HP:0040186 biolink:PhenotypicFeature HP:0410288 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0020071 biolink:PhenotypicFeature HP:0030005 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001923 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004332 biolink:PhenotypicFeature HP:0012137 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0030953 biolink:PhenotypicFeature HP:0032043 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0410257 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001943 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002045 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0001987 biolink:PhenotypicFeature HP:0002480 biolink:PhenotypicFeature HP:0004360 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0011106 biolink:PhenotypicFeature HP:0100796 biolink:PhenotypicFeature Orphanet:891 biolink:Disease Familial exudative vitreoretinopathy HP:0007773 biolink:PhenotypicFeature HP:0007685 biolink:PhenotypicFeature HP:0001493 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007917 biolink:PhenotypicFeature HP:0012795 biolink:PhenotypicFeature HP:0030666 biolink:PhenotypicFeature HP:0031526 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000533 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001141 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0004349 biolink:PhenotypicFeature HP:0007902 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0012230 biolink:PhenotypicFeature HP:0030496 biolink:PhenotypicFeature HP:0030503 biolink:PhenotypicFeature HP:0040049 biolink:PhenotypicFeature HP:0100014 biolink:PhenotypicFeature HP:0100832 biolink:PhenotypicFeature Orphanet:79501 biolink:Disease Punctate palmoplantar keratoderma type 1 HP:0000972 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0011124 biolink:PhenotypicFeature HP:0045059 biolink:PhenotypicFeature HP:0025092 biolink:PhenotypicFeature HP:0025114 biolink:PhenotypicFeature HP:0040162 biolink:PhenotypicFeature HP:0002861 biolink:PhenotypicFeature HP:0003002 biolink:PhenotypicFeature HP:0012500 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0100751 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0005584 biolink:PhenotypicFeature HP:0006725 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0010622 biolink:PhenotypicFeature HP:0012125 biolink:PhenotypicFeature HP:0012126 biolink:PhenotypicFeature HP:0012189 biolink:PhenotypicFeature HP:0030692 biolink:PhenotypicFeature HP:0040274 biolink:PhenotypicFeature HP:0040276 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature Orphanet:340 biolink:Disease Hemorrhagic fever-renal syndrome HP:0001919 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0011037 biolink:PhenotypicFeature HP:0012213 biolink:PhenotypicFeature HP:0030005 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0100520 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000099 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0004729 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0030783 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002248 biolink:PhenotypicFeature HP:0002905 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0011896 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0031273 biolink:PhenotypicFeature HP:0031364 biolink:PhenotypicFeature HP:0100519 biolink:PhenotypicFeature HP:0100598 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002249 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0011029 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature Orphanet:1303 biolink:Disease Bronchiolitis obliterans with obstructive pulmonary disease HP:0002094 biolink:PhenotypicFeature HP:0006536 biolink:PhenotypicFeature HP:0011946 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0030877 biolink:PhenotypicFeature HP:0032341 biolink:PhenotypicFeature HP:0032342 biolink:PhenotypicFeature HP:0032359 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0031246 biolink:PhenotypicFeature HP:0045051 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0025179 biolink:PhenotypicFeature Orphanet:2902 biolink:Disease Idiopathic chronic eosinophilic pneumonia HP:0031983 biolink:PhenotypicFeature HP:0032177 biolink:PhenotypicFeature HP:0001047 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0006516 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0030830 biolink:PhenotypicFeature HP:0031246 biolink:PhenotypicFeature HP:0032017 biolink:PhenotypicFeature HP:0032061 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0025406 biolink:PhenotypicFeature HP:0030166 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature HP:0100750 biolink:PhenotypicFeature Orphanet:1083 biolink:Disease Microlissencephaly HP:0000252 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0007190 biolink:PhenotypicFeature HP:0007266 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0025190 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0006891 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0007165 biolink:PhenotypicFeature HP:0009879 biolink:PhenotypicFeature HP:0032391 biolink:PhenotypicFeature Orphanet:2356 biolink:Disease Arachnoid cyst HP:0002315 biolink:PhenotypicFeature HP:0010576 biolink:PhenotypicFeature HP:0032070 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000734 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000745 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0000933 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001293 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001350 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002138 biolink:PhenotypicFeature HP:0002176 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002385 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003698 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0005324 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007086 biolink:PhenotypicFeature HP:0007291 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0009745 biolink:PhenotypicFeature HP:0010303 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0011499 biolink:PhenotypicFeature HP:0011868 biolink:PhenotypicFeature HP:0012246 biolink:PhenotypicFeature HP:0012514 biolink:PhenotypicFeature HP:0012700 biolink:PhenotypicFeature HP:0025331 biolink:PhenotypicFeature HP:0025479 biolink:PhenotypicFeature HP:0030215 biolink:PhenotypicFeature HP:0032327 biolink:PhenotypicFeature HP:0100754 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0002084 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0012294 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0032059 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0100951 biolink:PhenotypicFeature Orphanet:40923 biolink:Disease Eales disease HP:0002315 biolink:PhenotypicFeature HP:0007902 biolink:PhenotypicFeature HP:0025188 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000543 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0007052 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007917 biolink:PhenotypicFeature HP:0011497 biolink:PhenotypicFeature HP:0011505 biolink:PhenotypicFeature HP:0011531 biolink:PhenotypicFeature HP:0012122 biolink:PhenotypicFeature HP:0012230 biolink:PhenotypicFeature HP:0030329 biolink:PhenotypicFeature HP:0030652 biolink:PhenotypicFeature HP:0030667 biolink:PhenotypicFeature HP:0030773 biolink:PhenotypicFeature HP:0030786 biolink:PhenotypicFeature HP:0040049 biolink:PhenotypicFeature HP:0100832 biolink:PhenotypicFeature HP:0002140 biolink:PhenotypicFeature HP:0002196 biolink:PhenotypicFeature HP:0002326 biolink:PhenotypicFeature HP:0025239 biolink:PhenotypicFeature HP:0100014 biolink:PhenotypicFeature Orphanet:99827 biolink:Disease Crimean-Congo hemorrhagic fever HP:0002315 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003237 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003645 biolink:PhenotypicFeature HP:0020071 biolink:PhenotypicFeature HP:0025258 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0030833 biolink:PhenotypicFeature HP:0032198 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0003496 biolink:PhenotypicFeature HP:0030005 biolink:PhenotypicFeature HP:0000421 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000720 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001262 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002248 biolink:PhenotypicFeature HP:0002249 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0031364 biolink:PhenotypicFeature HP:0100247 biolink:PhenotypicFeature HP:0000031 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000573 biolink:PhenotypicFeature HP:0000846 biolink:PhenotypicFeature HP:0001082 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0001735 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0005162 biolink:PhenotypicFeature HP:0007420 biolink:PhenotypicFeature HP:0011029 biolink:PhenotypicFeature HP:0011710 biolink:PhenotypicFeature HP:0011850 biolink:PhenotypicFeature HP:0011854 biolink:PhenotypicFeature HP:0011896 biolink:PhenotypicFeature HP:0011897 biolink:PhenotypicFeature HP:0012151 biolink:PhenotypicFeature HP:0012219 biolink:PhenotypicFeature HP:0012282 biolink:PhenotypicFeature HP:0012819 biolink:PhenotypicFeature HP:0025420 biolink:PhenotypicFeature HP:0031218 biolink:PhenotypicFeature HP:0100309 biolink:PhenotypicFeature HP:0100796 biolink:PhenotypicFeature Orphanet:36386 biolink:Disease Hereditary sensory and autonomic neuropathy type 1 HP:0002540 biolink:PhenotypicFeature HP:0002754 biolink:PhenotypicFeature HP:0002756 biolink:PhenotypicFeature HP:0002821 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0007002 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0100287 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002270 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0007078 biolink:PhenotypicFeature HP:0031060 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001026 biolink:PhenotypicFeature HP:0001058 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0006937 biolink:PhenotypicFeature HP:0007021 biolink:PhenotypicFeature HP:0007550 biolink:PhenotypicFeature HP:0009027 biolink:PhenotypicFeature HP:0009763 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature HP:0010834 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature Orphanet:37553 biolink:Disease Andersen-Tawil syndrome HP:0001324 biolink:PhenotypicFeature HP:0003768 biolink:PhenotypicFeature HP:0003752 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0004308 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008153 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000325 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000677 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000859 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001664 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0001864 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0005135 biolink:PhenotypicFeature HP:0005147 biolink:PhenotypicFeature HP:0005184 biolink:PhenotypicFeature HP:0006335 biolink:PhenotypicFeature HP:0006682 biolink:PhenotypicFeature HP:0006696 biolink:PhenotypicFeature HP:0007215 biolink:PhenotypicFeature HP:0011073 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0025072 biolink:PhenotypicFeature HP:0030799 biolink:PhenotypicFeature HP:0031677 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000089 biolink:PhenotypicFeature HP:0000124 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature Orphanet:35706 biolink:Disease Glutaric acidemia type 3 HP:0003150 biolink:PhenotypicFeature HP:0011021 biolink:PhenotypicFeature HP:0000960 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001993 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0002919 biolink:PhenotypicFeature HP:0003530 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature Orphanet:35858 biolink:Disease Imerslund-Gräsbeck syndrome HP:0000750 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0100502 biolink:PhenotypicFeature HP:0200118 biolink:PhenotypicFeature HP:0410216 biolink:PhenotypicFeature HP:0001889 biolink:PhenotypicFeature HP:0001972 biolink:PhenotypicFeature HP:0004821 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001923 biolink:PhenotypicFeature HP:0004823 biolink:PhenotypicFeature HP:0020061 biolink:PhenotypicFeature HP:0032566 biolink:PhenotypicFeature HP:0000206 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0004396 biolink:PhenotypicFeature HP:0030318 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature Orphanet:1677 biolink:Disease Familial idiopathic dilatation of the right atrium HP:0011995 biolink:PhenotypicFeature HP:0030718 biolink:PhenotypicFeature HP:0001279 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001667 biolink:PhenotypicFeature HP:0001678 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0005110 biolink:PhenotypicFeature HP:0005178 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0005345 biolink:PhenotypicFeature HP:0006707 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012664 biolink:PhenotypicFeature HP:0030872 biolink:PhenotypicFeature HP:0031665 biolink:PhenotypicFeature HP:0031667 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0004757 biolink:PhenotypicFeature HP:0012398 biolink:PhenotypicFeature HP:3000042 biolink:PhenotypicFeature Orphanet:488 biolink:Disease Urachal cyst HP:0000790 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0012085 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0025615 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0100518 biolink:PhenotypicFeature HP:0100525 biolink:PhenotypicFeature HP:0002586 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0010766 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0031500 biolink:PhenotypicFeature Orphanet:99829 biolink:Disease Yellow fever HP:0001945 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0003496 biolink:PhenotypicFeature HP:0020071 biolink:PhenotypicFeature HP:0031964 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002248 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0006277 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0030139 biolink:PhenotypicFeature HP:0030783 biolink:PhenotypicFeature HP:0031956 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001735 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0003225 biolink:PhenotypicFeature HP:0003419 biolink:PhenotypicFeature HP:0005115 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0011897 biolink:PhenotypicFeature HP:0011900 biolink:PhenotypicFeature HP:0030005 biolink:PhenotypicFeature HP:0031273 biolink:PhenotypicFeature HP:0032066 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0011029 biolink:PhenotypicFeature HP:0012664 biolink:PhenotypicFeature HP:0031690 biolink:PhenotypicFeature HP:0100519 biolink:PhenotypicFeature Orphanet:41751 biolink:Disease Bietti crystalline dystrophy HP:0000505 biolink:PhenotypicFeature HP:0000654 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0001133 biolink:PhenotypicFeature HP:0007722 biolink:PhenotypicFeature HP:0007760 biolink:PhenotypicFeature HP:0030491 biolink:PhenotypicFeature HP:0031528 biolink:PhenotypicFeature HP:0200065 biolink:PhenotypicFeature HP:0000551 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000603 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0001129 biolink:PhenotypicFeature HP:0001141 biolink:PhenotypicFeature HP:0007814 biolink:PhenotypicFeature HP:0011505 biolink:PhenotypicFeature HP:0030329 biolink:PhenotypicFeature HP:0030528 biolink:PhenotypicFeature Orphanet:51208 biolink:Disease Formiminoglutamic aciduria HP:0010904 biolink:PhenotypicFeature HP:0012335 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0032164 biolink:PhenotypicFeature HP:0500170 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001889 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature Orphanet:48435 biolink:Disease Postinfectious vasculitis HP:0000099 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0005368 biolink:PhenotypicFeature HP:0010876 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0012649 biolink:PhenotypicFeature HP:0030166 biolink:PhenotypicFeature HP:0031691 biolink:PhenotypicFeature HP:0032018 biolink:PhenotypicFeature HP:0200029 biolink:PhenotypicFeature HP:0410008 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000793 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0001063 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002140 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0002726 biolink:PhenotypicFeature HP:0002923 biolink:PhenotypicFeature HP:0003261 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0004386 biolink:PhenotypicFeature HP:0005318 biolink:PhenotypicFeature HP:0005366 biolink:PhenotypicFeature HP:0005401 biolink:PhenotypicFeature HP:0006562 biolink:PhenotypicFeature HP:0006689 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010702 biolink:PhenotypicFeature HP:0011274 biolink:PhenotypicFeature HP:0020101 biolink:PhenotypicFeature HP:0020114 biolink:PhenotypicFeature HP:0020180 biolink:PhenotypicFeature HP:0025143 biolink:PhenotypicFeature HP:0025188 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0031363 biolink:PhenotypicFeature HP:0031692 biolink:PhenotypicFeature HP:0031693 biolink:PhenotypicFeature HP:0032166 biolink:PhenotypicFeature HP:0032170 biolink:PhenotypicFeature HP:0032230 biolink:PhenotypicFeature HP:0100778 biolink:PhenotypicFeature HP:0100796 biolink:PhenotypicFeature Orphanet:57777 biolink:Disease Cirrhotic cardiomyopathy HP:0001394 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0005185 biolink:PhenotypicFeature HP:0012664 biolink:PhenotypicFeature HP:0025168 biolink:PhenotypicFeature HP:0031138 biolink:PhenotypicFeature HP:0500018 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0004890 biolink:PhenotypicFeature HP:0012398 biolink:PhenotypicFeature HP:0020182 biolink:PhenotypicFeature HP:0025406 biolink:PhenotypicFeature HP:0030718 biolink:PhenotypicFeature HP:0030973 biolink:PhenotypicFeature HP:0031185 biolink:PhenotypicFeature HP:0031295 biolink:PhenotypicFeature HP:0032205 biolink:PhenotypicFeature HP:0100598 biolink:PhenotypicFeature HP:0410173 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0004308 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0030848 biolink:PhenotypicFeature HP:0030955 biolink:PhenotypicFeature HP:0031658 biolink:PhenotypicFeature HP:0031659 biolink:PhenotypicFeature HP:0032106 biolink:PhenotypicFeature Orphanet:53372 biolink:Disease Hereditary geniospasm HP:0012462 biolink:PhenotypicFeature HP:3000007 biolink:PhenotypicFeature HP:0000178 biolink:PhenotypicFeature HP:0012433 biolink:PhenotypicFeature HP:0002080 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature Orphanet:59298 biolink:Disease Schilder disease HP:0001347 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002344 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0007305 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002172 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0011448 biolink:PhenotypicFeature HP:0012229 biolink:PhenotypicFeature Orphanet:59181 biolink:Disease Sorsby pseudoinflammatory fundus dystrophy HP:0000572 biolink:PhenotypicFeature HP:0007754 biolink:PhenotypicFeature HP:0030500 biolink:PhenotypicFeature HP:0031528 biolink:PhenotypicFeature HP:0000610 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0001129 biolink:PhenotypicFeature HP:0011506 biolink:PhenotypicFeature HP:0030491 biolink:PhenotypicFeature HP:0030602 biolink:PhenotypicFeature HP:0030625 biolink:PhenotypicFeature HP:0000533 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0001105 biolink:PhenotypicFeature HP:0001141 biolink:PhenotypicFeature HP:0007722 biolink:PhenotypicFeature Orphanet:64734 biolink:Disease Iridocorneal endothelial syndrome HP:0000501 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0001089 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0009918 biolink:PhenotypicFeature HP:0011483 biolink:PhenotypicFeature HP:0011489 biolink:PhenotypicFeature HP:0012040 biolink:PhenotypicFeature HP:0007818 biolink:PhenotypicFeature HP:0007990 biolink:PhenotypicFeature HP:0011484 biolink:PhenotypicFeature HP:0011500 biolink:PhenotypicFeature HP:0011525 biolink:PhenotypicFeature HP:0025309 biolink:PhenotypicFeature HP:0025358 biolink:PhenotypicFeature HP:0001100 biolink:PhenotypicFeature Orphanet:60025 biolink:Disease Pulmonary alveolar microlithiasis HP:0002091 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0005317 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030874 biolink:PhenotypicFeature HP:0031246 biolink:PhenotypicFeature HP:0032094 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0003473 biolink:PhenotypicFeature HP:0012398 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0025178 biolink:PhenotypicFeature HP:0030879 biolink:PhenotypicFeature HP:0031944 biolink:PhenotypicFeature HP:0100759 biolink:PhenotypicFeature HP:0000144 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0004241 biolink:PhenotypicFeature HP:0004382 biolink:PhenotypicFeature HP:0004724 biolink:PhenotypicFeature HP:0004963 biolink:PhenotypicFeature HP:0008703 biolink:PhenotypicFeature HP:0010766 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0012215 biolink:PhenotypicFeature HP:0012387 biolink:PhenotypicFeature HP:0025179 biolink:PhenotypicFeature HP:0004363 biolink:PhenotypicFeature HP:0100529 biolink:PhenotypicFeature Orphanet:79319 biolink:Disease MPI-CDG HP:0012379 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003256 biolink:PhenotypicFeature HP:0040246 biolink:PhenotypicFeature HP:0000825 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001929 biolink:PhenotypicFeature HP:0001977 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002243 biolink:PhenotypicFeature HP:0004855 biolink:PhenotypicFeature HP:0005543 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature Orphanet:319251 biolink:Disease Rift valley fever HP:0001945 biolink:PhenotypicFeature HP:0003237 biolink:PhenotypicFeature HP:0020071 biolink:PhenotypicFeature HP:0002039 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000573 biolink:PhenotypicFeature HP:0000575 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0003496 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0025188 biolink:PhenotypicFeature HP:0032118 biolink:PhenotypicFeature HP:0032323 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature HP:0000225 biolink:PhenotypicFeature HP:0000554 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000790 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001977 biolink:PhenotypicFeature HP:0002248 biolink:PhenotypicFeature HP:0002249 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002383 biolink:PhenotypicFeature HP:0002385 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003470 biolink:PhenotypicFeature HP:0003781 biolink:PhenotypicFeature HP:0004372 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0005542 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature HP:0012229 biolink:PhenotypicFeature HP:0025013 biolink:PhenotypicFeature HP:0031691 biolink:PhenotypicFeature HP:0040049 biolink:PhenotypicFeature Orphanet:79324 biolink:Disease ALG12-CDG HP:0001622 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001988 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002389 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003049 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003146 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0009623 biolink:PhenotypicFeature HP:0010557 biolink:PhenotypicFeature HP:0011327 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0011849 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012766 biolink:PhenotypicFeature HP:0030353 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature HP:0410240 biolink:PhenotypicFeature HP:0410243 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0410295 biolink:PhenotypicFeature HP:0410305 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0002566 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0009124 biolink:PhenotypicFeature HP:0011623 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0200128 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000119 biolink:PhenotypicFeature HP:0003256 biolink:PhenotypicFeature HP:0000253 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000759 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001929 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002257 biolink:PhenotypicFeature HP:0003645 biolink:PhenotypicFeature HP:0004855 biolink:PhenotypicFeature HP:0005543 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0010976 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0040246 biolink:PhenotypicFeature HP:0100776 biolink:PhenotypicFeature HP:0410018 biolink:PhenotypicFeature HP:0410242 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000047 biolink:PhenotypicFeature HP:0000054 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000322 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000426 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000541 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001582 biolink:PhenotypicFeature Orphanet:79320 biolink:Disease ALG6-CDG HP:0012379 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001929 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002243 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003256 biolink:PhenotypicFeature HP:0003642 biolink:PhenotypicFeature HP:0004855 biolink:PhenotypicFeature HP:0005543 biolink:PhenotypicFeature HP:0006118 biolink:PhenotypicFeature HP:0040246 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000546 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0002625 biolink:PhenotypicFeature HP:0003563 biolink:PhenotypicFeature HP:0008373 biolink:PhenotypicFeature HP:0030348 biolink:PhenotypicFeature Orphanet:64744 biolink:Disease IgG4-related thyroid disease HP:0000853 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000872 biolink:PhenotypicFeature HP:0025379 biolink:PhenotypicFeature HP:0032069 biolink:PhenotypicFeature HP:0032300 biolink:PhenotypicFeature HP:0001605 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002777 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0005994 biolink:PhenotypicFeature HP:0009798 biolink:PhenotypicFeature HP:0100647 biolink:PhenotypicFeature HP:0005200 biolink:PhenotypicFeature HP:0011784 biolink:PhenotypicFeature HP:0012503 biolink:PhenotypicFeature HP:0030991 biolink:PhenotypicFeature HP:0031281 biolink:PhenotypicFeature HP:0032039 biolink:PhenotypicFeature HP:0045026 biolink:PhenotypicFeature HP:0100732 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0012393 biolink:PhenotypicFeature Orphanet:64743 biolink:Disease Hepatoportal sclerosis HP:0008151 biolink:PhenotypicFeature HP:0030146 biolink:PhenotypicFeature HP:0030169 biolink:PhenotypicFeature HP:0031015 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001405 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002480 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0011954 biolink:PhenotypicFeature HP:0020136 biolink:PhenotypicFeature HP:0020137 biolink:PhenotypicFeature HP:0030242 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001971 biolink:PhenotypicFeature HP:0002040 biolink:PhenotypicFeature HP:0003262 biolink:PhenotypicFeature HP:0006707 biolink:PhenotypicFeature Orphanet:65681 biolink:Disease Vaginal atresia HP:0000148 biolink:PhenotypicFeature HP:0000130 biolink:PhenotypicFeature HP:0000786 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0030011 biolink:PhenotypicFeature HP:0031500 biolink:PhenotypicFeature HP:0031501 biolink:PhenotypicFeature HP:0003762 biolink:PhenotypicFeature HP:0030160 biolink:PhenotypicFeature HP:0100674 biolink:PhenotypicFeature HP:0000145 biolink:PhenotypicFeature HP:0000813 biolink:PhenotypicFeature Orphanet:67042 biolink:Disease Late-onset retinal degeneration HP:0030534 biolink:PhenotypicFeature HP:0000533 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000608 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0001141 biolink:PhenotypicFeature HP:0007791 biolink:PhenotypicFeature HP:0011506 biolink:PhenotypicFeature HP:0011510 biolink:PhenotypicFeature HP:0031530 biolink:PhenotypicFeature HP:0000552 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000642 biolink:PhenotypicFeature HP:0001089 biolink:PhenotypicFeature HP:0001099 biolink:PhenotypicFeature HP:0004328 biolink:PhenotypicFeature HP:0007401 biolink:PhenotypicFeature HP:0012628 biolink:PhenotypicFeature HP:0012805 biolink:PhenotypicFeature HP:0500087 biolink:PhenotypicFeature HP:0007906 biolink:PhenotypicFeature HP:0100014 biolink:PhenotypicFeature Orphanet:69076 biolink:Disease Familial renal glucosuria HP:0000112 biolink:PhenotypicFeature HP:0000124 biolink:PhenotypicFeature HP:0003076 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0001944 biolink:PhenotypicFeature HP:0001946 biolink:PhenotypicFeature HP:0008855 biolink:PhenotypicFeature HP:0000805 biolink:PhenotypicFeature HP:0000855 biolink:PhenotypicFeature HP:0003074 biolink:PhenotypicFeature HP:0004924 biolink:PhenotypicFeature HP:0040215 biolink:PhenotypicFeature HP:0040217 biolink:PhenotypicFeature Orphanet:69663 biolink:Disease Low phospholipid-associated cholelithiasis HP:0001406 biolink:PhenotypicFeature HP:0011848 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0025502 biolink:PhenotypicFeature HP:0030948 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001082 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001733 biolink:PhenotypicFeature HP:0002896 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0005230 biolink:PhenotypicFeature HP:0030151 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0002613 biolink:PhenotypicFeature HP:0030991 biolink:PhenotypicFeature HP:0100523 biolink:PhenotypicFeature Orphanet:69745 biolink:Disease Warty dyskeratoma HP:0011355 biolink:PhenotypicFeature HP:0011368 biolink:PhenotypicFeature HP:0031285 biolink:PhenotypicFeature HP:0100792 biolink:PhenotypicFeature HP:0000464 biolink:PhenotypicFeature HP:0001965 biolink:PhenotypicFeature HP:0025103 biolink:PhenotypicFeature HP:0025512 biolink:PhenotypicFeature HP:0030350 biolink:PhenotypicFeature HP:0200016 biolink:PhenotypicFeature HP:0031445 biolink:PhenotypicFeature HP:0410340 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0006477 biolink:PhenotypicFeature HP:0012881 biolink:PhenotypicFeature HP:0030416 biolink:PhenotypicFeature HP:0100648 biolink:PhenotypicFeature HP:0100737 biolink:PhenotypicFeature Orphanet:70472 biolink:Disease Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0002151 biolink:PhenotypicFeature HP:0002401 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0008347 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002344 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003688 biolink:PhenotypicFeature HP:0007183 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010841 biolink:PhenotypicFeature HP:0011203 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002060 biolink:PhenotypicFeature HP:0002310 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0007325 biolink:PhenotypicFeature HP:0010536 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0012243 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature Orphanet:71275 biolink:Disease Rh deficiency syndrome HP:0001878 biolink:PhenotypicFeature HP:0001923 biolink:PhenotypicFeature HP:0005502 biolink:PhenotypicFeature HP:0020181 biolink:PhenotypicFeature HP:0032366 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0004444 biolink:PhenotypicFeature HP:0004446 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0032231 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001649 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0011273 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0001972 biolink:PhenotypicFeature Orphanet:79326 biolink:Disease ALG2-CDG HP:0003642 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001928 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0006808 biolink:PhenotypicFeature HP:0006956 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0012704 biolink:PhenotypicFeature HP:0012751 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature Orphanet:79327 biolink:Disease ALG1-CDG HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000253 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000924 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001871 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0011344 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001638 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002243 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature Orphanet:79328 biolink:Disease ALG9-CDG HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0000253 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0000105 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000154 biolink:PhenotypicFeature HP:0000193 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000430 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0000474 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000586 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000813 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001405 biolink:PhenotypicFeature HP:0001407 biolink:PhenotypicFeature HP:0001539 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002099 biolink:PhenotypicFeature HP:0002101 biolink:PhenotypicFeature HP:0002162 biolink:PhenotypicFeature HP:0002265 biolink:PhenotypicFeature HP:0002557 biolink:PhenotypicFeature HP:0003015 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003196 biolink:PhenotypicFeature HP:0003375 biolink:PhenotypicFeature HP:0005133 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005343 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0007385 biolink:PhenotypicFeature HP:0008724 biolink:PhenotypicFeature HP:0008776 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0009004 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0009487 biolink:PhenotypicFeature HP:0010763 biolink:PhenotypicFeature HP:0011103 biolink:PhenotypicFeature HP:0011473 biolink:PhenotypicFeature HP:0011849 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012704 biolink:PhenotypicFeature HP:0030215 biolink:PhenotypicFeature HP:0032464 biolink:PhenotypicFeature HP:0040021 biolink:PhenotypicFeature HP:0100865 biolink:PhenotypicFeature Orphanet:79329 biolink:Disease MGAT2-CDG HP:0001263 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0003655 biolink:PhenotypicFeature HP:0000253 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0000194 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000358 biolink:PhenotypicFeature HP:0000363 biolink:PhenotypicFeature HP:0000368 biolink:PhenotypicFeature HP:0000395 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000678 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001789 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0001929 biolink:PhenotypicFeature HP:0001965 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0002557 biolink:PhenotypicFeature HP:0002578 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0003347 biolink:PhenotypicFeature HP:0003540 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0004315 biolink:PhenotypicFeature HP:0005387 biolink:PhenotypicFeature HP:0009765 biolink:PhenotypicFeature HP:0010990 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012171 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0031381 biolink:PhenotypicFeature HP:0200117 biolink:PhenotypicFeature HP:0500173 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature Orphanet:75376 biolink:Disease Familial drusen HP:0030499 biolink:PhenotypicFeature HP:0030500 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0007754 biolink:PhenotypicFeature HP:0007937 biolink:PhenotypicFeature HP:0007703 biolink:PhenotypicFeature HP:0011509 biolink:PhenotypicFeature HP:0012508 biolink:PhenotypicFeature HP:0030629 biolink:PhenotypicFeature HP:0030631 biolink:PhenotypicFeature HP:0030632 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0007401 biolink:PhenotypicFeature HP:0007793 biolink:PhenotypicFeature HP:0007950 biolink:PhenotypicFeature HP:0011506 biolink:PhenotypicFeature HP:0012231 biolink:PhenotypicFeature HP:0025574 biolink:PhenotypicFeature HP:0030528 biolink:PhenotypicFeature HP:0031526 biolink:PhenotypicFeature Orphanet:75508 biolink:Disease Angioosteohypotrophic syndrome HP:0001015 biolink:PhenotypicFeature HP:0001528 biolink:PhenotypicFeature HP:0006496 biolink:PhenotypicFeature HP:0012721 biolink:PhenotypicFeature HP:0025104 biolink:PhenotypicFeature HP:0040064 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0002753 biolink:PhenotypicFeature HP:0002984 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0005792 biolink:PhenotypicFeature HP:0010484 biolink:PhenotypicFeature HP:0011804 biolink:PhenotypicFeature HP:0100671 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0009824 biolink:PhenotypicFeature Orphanet:75566 biolink:Disease Loeffler endocarditis HP:0001723 biolink:PhenotypicFeature HP:0001880 biolink:PhenotypicFeature HP:0001977 biolink:PhenotypicFeature HP:0031323 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0025168 biolink:PhenotypicFeature HP:0031331 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001685 biolink:PhenotypicFeature HP:0006685 biolink:PhenotypicFeature HP:0010872 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011712 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025523 biolink:PhenotypicFeature HP:0031295 biolink:PhenotypicFeature HP:0031442 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature Orphanet:75858 biolink:Disease MORM syndrome HP:0000054 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000556 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0001105 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0007675 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature Orphanet:77296 biolink:Disease Morgagni-Stewart-Morel syndrome HP:0004438 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0032245 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000725 biolink:PhenotypicFeature HP:0000820 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0002310 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0002345 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002758 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0031589 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:86309 biolink:Disease DPAGT1-CDG HP:0000519 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000510 biolink:PhenotypicFeature HP:0000577 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001166 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001657 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001976 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002283 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0003429 biolink:PhenotypicFeature HP:0004855 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0009125 biolink:PhenotypicFeature HP:0010781 biolink:PhenotypicFeature HP:0010845 biolink:PhenotypicFeature HP:0011097 biolink:PhenotypicFeature HP:0011153 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012050 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0012512 biolink:PhenotypicFeature HP:0025534 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0030213 biolink:PhenotypicFeature HP:0200134 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001989 biolink:PhenotypicFeature HP:0002304 biolink:PhenotypicFeature HP:0002401 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0012168 biolink:PhenotypicFeature HP:0012172 biolink:PhenotypicFeature Orphanet:79330 biolink:Disease MOGS-CDG HP:0000278 biolink:PhenotypicFeature HP:0000445 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002720 biolink:PhenotypicFeature HP:0002850 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0012745 biolink:PhenotypicFeature HP:0000034 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000269 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002286 biolink:PhenotypicFeature HP:0002791 biolink:PhenotypicFeature HP:0002943 biolink:PhenotypicFeature HP:0004315 biolink:PhenotypicFeature HP:0004463 biolink:PhenotypicFeature HP:0007430 biolink:PhenotypicFeature HP:0010557 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0020110 biolink:PhenotypicFeature HP:0031218 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature HP:0100598 biolink:PhenotypicFeature Orphanet:79093 biolink:Disease Foix-Alajouanine syndrome HP:0000707 biolink:PhenotypicFeature HP:0002196 biolink:PhenotypicFeature HP:0004947 biolink:PhenotypicFeature HP:0012703 biolink:PhenotypicFeature HP:0012721 biolink:PhenotypicFeature HP:0040272 biolink:PhenotypicFeature HP:0100561 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0007199 biolink:PhenotypicFeature HP:0012486 biolink:PhenotypicFeature HP:0000009 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0000016 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0002141 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002607 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003419 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0012423 biolink:PhenotypicFeature HP:0012534 biolink:PhenotypicFeature HP:0030014 biolink:PhenotypicFeature HP:0040307 biolink:PhenotypicFeature HP:0002318 biolink:PhenotypicFeature HP:0008944 biolink:PhenotypicFeature Orphanet:79078 biolink:Disease IgG4-related dacryoadenitis and sialadenitis HP:0007734 biolink:PhenotypicFeature HP:0010286 biolink:PhenotypicFeature HP:0010287 biolink:PhenotypicFeature HP:0032300 biolink:PhenotypicFeature HP:0011801 biolink:PhenotypicFeature HP:0000217 biolink:PhenotypicFeature HP:0000282 biolink:PhenotypicFeature HP:0000315 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000587 biolink:PhenotypicFeature HP:0000629 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003261 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0003496 biolink:PhenotypicFeature HP:0008049 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0032230 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0005200 biolink:PhenotypicFeature HP:0005994 biolink:PhenotypicFeature HP:0007807 biolink:PhenotypicFeature HP:0011481 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature Orphanet:79097 biolink:Disease Folinic acid-responsive seizures HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0012446 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0006808 biolink:PhenotypicFeature HP:0010841 biolink:PhenotypicFeature HP:0010845 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0040204 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002136 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0006892 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0020221 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature Orphanet:79322 biolink:Disease DPM1-CDG HP:0001250 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0005484 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001976 biolink:PhenotypicFeature HP:0002705 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0004855 biolink:PhenotypicFeature HP:0005543 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0100321 biolink:PhenotypicFeature HP:0000243 biolink:PhenotypicFeature HP:0000293 biolink:PhenotypicFeature HP:0000319 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001847 biolink:PhenotypicFeature HP:0001852 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002057 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0003560 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0006879 biolink:PhenotypicFeature HP:0007333 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0010806 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0011152 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0025404 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature Orphanet:447 biolink:Disease Paroxysmal nocturnal hemoglobinuria HP:0030272 biolink:PhenotypicFeature HP:0001878 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0003641 biolink:PhenotypicFeature HP:0025406 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature HP:0001923 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0002625 biolink:PhenotypicFeature HP:0003138 biolink:PhenotypicFeature HP:0004936 biolink:PhenotypicFeature HP:0008282 biolink:PhenotypicFeature HP:0012543 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0020181 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0032106 biolink:PhenotypicFeature HP:0040303 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000802 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0002204 biolink:PhenotypicFeature HP:0002639 biolink:PhenotypicFeature HP:0004420 biolink:PhenotypicFeature HP:0012132 biolink:PhenotypicFeature HP:0030248 biolink:PhenotypicFeature HP:0032043 biolink:PhenotypicFeature HP:0001994 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0003076 biolink:PhenotypicFeature HP:0025271 biolink:PhenotypicFeature Orphanet:321 biolink:Disease Multiple osteochondromas HP:0030431 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0002763 biolink:PhenotypicFeature HP:0002815 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0003330 biolink:PhenotypicFeature HP:0003959 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0040069 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002857 biolink:PhenotypicFeature HP:0002991 biolink:PhenotypicFeature HP:0002992 biolink:PhenotypicFeature HP:0003016 biolink:PhenotypicFeature HP:0003026 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0003977 biolink:PhenotypicFeature HP:0005922 biolink:PhenotypicFeature HP:0006385 biolink:PhenotypicFeature HP:0006487 biolink:PhenotypicFeature HP:0008800 biolink:PhenotypicFeature HP:0009821 biolink:PhenotypicFeature HP:0009826 biolink:PhenotypicFeature HP:0010049 biolink:PhenotypicFeature HP:0010501 biolink:PhenotypicFeature HP:0025232 biolink:PhenotypicFeature HP:0030883 biolink:PhenotypicFeature HP:0032510 biolink:PhenotypicFeature HP:0040071 biolink:PhenotypicFeature HP:0100555 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0000016 biolink:PhenotypicFeature HP:0000896 biolink:PhenotypicFeature HP:0000918 biolink:PhenotypicFeature HP:0001191 biolink:PhenotypicFeature HP:0001850 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature HP:0002144 biolink:PhenotypicFeature HP:0002176 biolink:PhenotypicFeature HP:0002318 biolink:PhenotypicFeature HP:0003396 biolink:PhenotypicFeature HP:0003406 biolink:PhenotypicFeature HP:0004684 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0006765 biolink:PhenotypicFeature HP:0008443 biolink:PhenotypicFeature HP:0012151 biolink:PhenotypicFeature HP:0020110 biolink:PhenotypicFeature HP:0031625 biolink:PhenotypicFeature HP:0040163 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:79128 biolink:Disease Lymphoid interstitial pneumonia HP:0012735 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001217 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0005948 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0025179 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0030830 biolink:PhenotypicFeature HP:0031691 biolink:PhenotypicFeature HP:0032177 biolink:PhenotypicFeature HP:0045051 biolink:PhenotypicFeature HP:0000105 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001370 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0003549 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0025178 biolink:PhenotypicFeature HP:0025180 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0030950 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature Orphanet:79127 biolink:Disease Respiratory bronchiolitis-interstitial lung disease syndrome HP:0002091 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0002207 biolink:PhenotypicFeature HP:0006510 biolink:PhenotypicFeature HP:0025179 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0030877 biolink:PhenotypicFeature HP:0031996 biolink:PhenotypicFeature HP:0004469 biolink:PhenotypicFeature HP:0006516 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0031246 biolink:PhenotypicFeature HP:0045051 biolink:PhenotypicFeature HP:0001217 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0025175 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:79101 biolink:Disease Hyperprolinemia type 2 HP:0000708 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002921 biolink:PhenotypicFeature HP:0003080 biolink:PhenotypicFeature HP:0003137 biolink:PhenotypicFeature HP:0008358 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0012402 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0002154 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003348 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0008326 biolink:PhenotypicFeature HP:0011199 biolink:PhenotypicFeature HP:0012432 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000511 biolink:PhenotypicFeature HP:0000597 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001345 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0002490 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0011152 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012534 biolink:PhenotypicFeature Orphanet:79100 biolink:Disease Atrophoderma vermiculata HP:0001075 biolink:PhenotypicFeature HP:0004426 biolink:PhenotypicFeature HP:0007515 biolink:PhenotypicFeature HP:0011124 biolink:PhenotypicFeature HP:0100276 biolink:PhenotypicFeature HP:0000306 biolink:PhenotypicFeature HP:0007502 biolink:PhenotypicFeature HP:0045059 biolink:PhenotypicFeature HP:0100277 biolink:PhenotypicFeature HP:0000290 biolink:PhenotypicFeature HP:0000464 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001067 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0012722 biolink:PhenotypicFeature Orphanet:79323 biolink:Disease MPDU1-CDG HP:0003642 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000242 biolink:PhenotypicFeature HP:0000260 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000803 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0000964 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001276 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0005478 biolink:PhenotypicFeature HP:0007965 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0008529 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012704 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0030353 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0040288 biolink:PhenotypicFeature Orphanet:79153 biolink:Disease Idiopathic trachyonychia HP:0008404 biolink:PhenotypicFeature HP:0001598 biolink:PhenotypicFeature HP:0001803 biolink:PhenotypicFeature HP:0001807 biolink:PhenotypicFeature HP:0001808 biolink:PhenotypicFeature HP:0001816 biolink:PhenotypicFeature HP:0100798 biolink:PhenotypicFeature HP:0100803 biolink:PhenotypicFeature HP:0002232 biolink:PhenotypicFeature HP:0008399 biolink:PhenotypicFeature HP:0100797 biolink:PhenotypicFeature HP:0001045 biolink:PhenotypicFeature HP:0001047 biolink:PhenotypicFeature HP:0001973 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0011034 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature Orphanet:79145 biolink:Disease Dowling-Degos disease HP:0007456 biolink:PhenotypicFeature HP:0000464 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0030052 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0002046 biolink:PhenotypicFeature HP:0012855 biolink:PhenotypicFeature HP:0025473 biolink:PhenotypicFeature HP:0030350 biolink:PhenotypicFeature HP:0031293 biolink:PhenotypicFeature HP:0031447 biolink:PhenotypicFeature HP:0040154 biolink:PhenotypicFeature HP:0045059 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0009123 biolink:PhenotypicFeature HP:0010610 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature HP:0020073 biolink:PhenotypicFeature HP:0030442 biolink:PhenotypicFeature HP:0031525 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature HP:0200040 biolink:PhenotypicFeature Orphanet:79138 biolink:Disease Bickerstaff brainstem encephalitis HP:0000602 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0002329 biolink:PhenotypicFeature HP:0003403 biolink:PhenotypicFeature HP:0003431 biolink:PhenotypicFeature HP:0007305 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002270 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003690 biolink:PhenotypicFeature HP:0007131 biolink:PhenotypicFeature HP:0007209 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0011947 biolink:PhenotypicFeature HP:0012534 biolink:PhenotypicFeature HP:0012696 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0000496 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001259 biolink:PhenotypicFeature HP:0001283 biolink:PhenotypicFeature HP:0001291 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001348 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0002445 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0009916 biolink:PhenotypicFeature HP:0010628 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature HP:0010871 biolink:PhenotypicFeature HP:0011499 biolink:PhenotypicFeature HP:0012229 biolink:PhenotypicFeature HP:0012416 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0031123 biolink:PhenotypicFeature HP:0100786 biolink:PhenotypicFeature Orphanet:79333 biolink:Disease COG7-CDG HP:0001252 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001954 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012301 biolink:PhenotypicFeature HP:0012444 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000253 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001167 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0007392 biolink:PhenotypicFeature HP:0011451 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0012157 biolink:PhenotypicFeature HP:0100807 biolink:PhenotypicFeature Orphanet:79240 biolink:Disease Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency HP:0002155 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003162 biolink:PhenotypicFeature HP:0000147 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000858 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001947 biolink:PhenotypicFeature HP:0001988 biolink:PhenotypicFeature HP:0002194 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003323 biolink:PhenotypicFeature HP:0003325 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0003749 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012734 biolink:PhenotypicFeature HP:0100607 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002913 biolink:PhenotypicFeature HP:0003128 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature HP:0004324 biolink:PhenotypicFeature HP:0012028 biolink:PhenotypicFeature Orphanet:79332 biolink:Disease B4GALT1-CDG HP:0003236 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0012301 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000431 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0001976 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003256 biolink:PhenotypicFeature HP:0003563 biolink:PhenotypicFeature HP:0003645 biolink:PhenotypicFeature HP:0004855 biolink:PhenotypicFeature HP:0005543 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0000219 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001321 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001892 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0003186 biolink:PhenotypicFeature HP:0005989 biolink:PhenotypicFeature HP:0011003 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature Orphanet:91131 biolink:Disease DK1-CDG HP:0001644 biolink:PhenotypicFeature HP:0003642 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0031319 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0031329 biolink:PhenotypicFeature HP:0000253 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000817 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002521 biolink:PhenotypicFeature HP:0003323 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0006829 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0010841 biolink:PhenotypicFeature HP:0010845 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0025335 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature Orphanet:83471 biolink:Disease Thymic aplasia HP:0005359 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0005352 biolink:PhenotypicFeature HP:0005374 biolink:PhenotypicFeature HP:0005403 biolink:PhenotypicFeature HP:0031381 biolink:PhenotypicFeature HP:0031397 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0004798 biolink:PhenotypicFeature HP:0031690 biolink:PhenotypicFeature HP:0031691 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000246 biolink:PhenotypicFeature HP:0000389 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000976 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002726 biolink:PhenotypicFeature HP:0003472 biolink:PhenotypicFeature HP:0004844 biolink:PhenotypicFeature HP:0005366 biolink:PhenotypicFeature HP:0005387 biolink:PhenotypicFeature HP:0005401 biolink:PhenotypicFeature HP:0009098 biolink:PhenotypicFeature HP:0020101 biolink:PhenotypicFeature HP:0031430 biolink:PhenotypicFeature HP:0100646 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0200122 biolink:PhenotypicFeature Orphanet:84081 biolink:Disease Senior-Boichis syndrome HP:0000089 biolink:PhenotypicFeature HP:0000108 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001395 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0001409 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001959 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0003573 biolink:PhenotypicFeature HP:0004719 biolink:PhenotypicFeature HP:0005565 biolink:PhenotypicFeature HP:0006563 biolink:PhenotypicFeature HP:0006571 biolink:PhenotypicFeature HP:0012591 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0020132 biolink:PhenotypicFeature HP:0032581 biolink:PhenotypicFeature HP:0032622 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002040 biolink:PhenotypicFeature HP:0002500 biolink:PhenotypicFeature HP:0002506 biolink:PhenotypicFeature HP:0002612 biolink:PhenotypicFeature HP:0003774 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0012163 biolink:PhenotypicFeature HP:0012585 biolink:PhenotypicFeature HP:0031589 biolink:PhenotypicFeature Orphanet:79644 biolink:Disease Autosomal recessive hyperinsulinism due to Kir6.2 deficiency HP:0000825 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001988 biolink:PhenotypicFeature HP:0030796 biolink:PhenotypicFeature HP:0031080 biolink:PhenotypicFeature HP:0000845 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0031223 biolink:PhenotypicFeature HP:0031224 biolink:PhenotypicFeature HP:0040299 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001998 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0003118 biolink:PhenotypicFeature HP:0008194 biolink:PhenotypicFeature HP:0008947 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0002919 biolink:PhenotypicFeature Orphanet:83451 biolink:Disease Florid cemento-osseous dysplasia HP:0000277 biolink:PhenotypicFeature HP:0000326 biolink:PhenotypicFeature HP:0003330 biolink:PhenotypicFeature HP:0100671 biolink:PhenotypicFeature HP:0100717 biolink:PhenotypicFeature HP:0000700 biolink:PhenotypicFeature HP:0001571 biolink:PhenotypicFeature HP:0430026 biolink:PhenotypicFeature HP:0430028 biolink:PhenotypicFeature HP:0000155 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0006308 biolink:PhenotypicFeature HP:0006481 biolink:PhenotypicFeature HP:0006483 biolink:PhenotypicFeature HP:0007626 biolink:PhenotypicFeature HP:0009088 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012065 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0030793 biolink:PhenotypicFeature HP:0031035 biolink:PhenotypicFeature Orphanet:85451 biolink:Disease ATTRV122I amyloidosis HP:0001692 biolink:PhenotypicFeature HP:0003115 biolink:PhenotypicFeature HP:0030843 biolink:PhenotypicFeature HP:0031185 biolink:PhenotypicFeature HP:0410174 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001723 biolink:PhenotypicFeature HP:0005150 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012664 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature HP:0003416 biolink:PhenotypicFeature HP:0012185 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0025028 biolink:PhenotypicFeature HP:0100550 biolink:PhenotypicFeature HP:0001271 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature Orphanet:2785 biolink:Disease Osteopetrosis with renal tubular acidosis HP:0001947 biolink:PhenotypicFeature HP:0011002 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0001293 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002049 biolink:PhenotypicFeature HP:0002135 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0002757 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0003148 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008341 biolink:PhenotypicFeature HP:0025356 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000160 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000248 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000479 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000692 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000867 biolink:PhenotypicFeature HP:0001105 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0002684 biolink:PhenotypicFeature HP:0004445 biolink:PhenotypicFeature HP:0005461 biolink:PhenotypicFeature HP:0005528 biolink:PhenotypicFeature HP:0006335 biolink:PhenotypicFeature HP:0006641 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0012370 biolink:PhenotypicFeature HP:0030812 biolink:PhenotypicFeature HP:0000405 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0012181 biolink:PhenotypicFeature Orphanet:85188 biolink:Disease Metaphyseal dysplasia, Braun-Tinschert type HP:0002652 biolink:PhenotypicFeature HP:0002753 biolink:PhenotypicFeature HP:0002834 biolink:PhenotypicFeature HP:0002982 biolink:PhenotypicFeature HP:0002986 biolink:PhenotypicFeature HP:0003022 biolink:PhenotypicFeature HP:0003031 biolink:PhenotypicFeature HP:0003856 biolink:PhenotypicFeature HP:0003871 biolink:PhenotypicFeature HP:0003874 biolink:PhenotypicFeature HP:0003985 biolink:PhenotypicFeature HP:0003986 biolink:PhenotypicFeature HP:0004026 biolink:PhenotypicFeature HP:0005622 biolink:PhenotypicFeature HP:0006387 biolink:PhenotypicFeature HP:0006413 biolink:PhenotypicFeature HP:0006429 biolink:PhenotypicFeature HP:0008783 biolink:PhenotypicFeature HP:0008804 biolink:PhenotypicFeature HP:0010498 biolink:PhenotypicFeature HP:0010502 biolink:PhenotypicFeature HP:0010540 biolink:PhenotypicFeature HP:0010639 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0032208 biolink:PhenotypicFeature HP:0100670 biolink:PhenotypicFeature HP:0100916 biolink:PhenotypicFeature HP:0100917 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0006323 biolink:PhenotypicFeature Orphanet:85450 biolink:Disease Hereditary amyloidosis with primary renal involvement HP:0000093 biolink:PhenotypicFeature HP:0000112 biolink:PhenotypicFeature HP:0032613 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001970 biolink:PhenotypicFeature HP:0003259 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0012213 biolink:PhenotypicFeature HP:0012591 biolink:PhenotypicFeature HP:0000017 biolink:PhenotypicFeature HP:0000092 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000967 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001410 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0002733 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0003233 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0005576 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0031368 biolink:PhenotypicFeature HP:0031799 biolink:PhenotypicFeature HP:0410281 biolink:PhenotypicFeature HP:0000035 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000798 biolink:PhenotypicFeature HP:0003251 biolink:PhenotypicFeature HP:0008720 biolink:PhenotypicFeature Orphanet:90041 biolink:Disease Gaisböck syndrome HP:0000822 biolink:PhenotypicFeature HP:0001050 biolink:PhenotypicFeature HP:0001899 biolink:PhenotypicFeature HP:0011106 biolink:PhenotypicFeature HP:0020059 biolink:PhenotypicFeature HP:0025548 biolink:PhenotypicFeature HP:0025619 biolink:PhenotypicFeature HP:0100724 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000848 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002149 biolink:PhenotypicFeature HP:0002152 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002321 biolink:PhenotypicFeature HP:0003124 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0004950 biolink:PhenotypicFeature HP:0005117 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012605 biolink:PhenotypicFeature HP:0025502 biolink:PhenotypicFeature HP:0001082 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001677 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0004398 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0410019 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001997 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature Orphanet:90368 biolink:Disease Hypotrichosis simplex of the scalp HP:0002213 biolink:PhenotypicFeature HP:0100038 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0001036 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002293 biolink:PhenotypicFeature HP:0025092 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001047 biolink:PhenotypicFeature HP:0003193 biolink:PhenotypicFeature HP:0003212 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000499 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0002550 biolink:PhenotypicFeature HP:0004528 biolink:PhenotypicFeature HP:0007550 biolink:PhenotypicFeature HP:0100133 biolink:PhenotypicFeature HP:0100134 biolink:PhenotypicFeature Orphanet:763 biolink:Disease Pycnodysostosis HP:0001156 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0004474 biolink:PhenotypicFeature HP:0005446 biolink:PhenotypicFeature HP:0005906 biolink:PhenotypicFeature HP:0008873 biolink:PhenotypicFeature HP:0009839 biolink:PhenotypicFeature HP:0011001 biolink:PhenotypicFeature HP:0030353 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000270 biolink:PhenotypicFeature HP:0000327 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000444 biolink:PhenotypicFeature HP:0000448 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000592 biolink:PhenotypicFeature HP:0000824 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001773 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0002870 biolink:PhenotypicFeature HP:0005789 biolink:PhenotypicFeature HP:0008598 biolink:PhenotypicFeature HP:0009381 biolink:PhenotypicFeature HP:0011800 biolink:PhenotypicFeature HP:0012532 biolink:PhenotypicFeature HP:0200055 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000668 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000680 biolink:PhenotypicFeature HP:0000689 biolink:PhenotypicFeature HP:0000696 biolink:PhenotypicFeature HP:0000889 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001807 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0002645 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002866 biolink:PhenotypicFeature HP:0003027 biolink:PhenotypicFeature HP:0003302 biolink:PhenotypicFeature HP:0003304 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0006335 biolink:PhenotypicFeature HP:0008905 biolink:PhenotypicFeature HP:0010307 biolink:PhenotypicFeature HP:0010884 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0025502 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000539 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000774 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0002308 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0002808 biolink:PhenotypicFeature HP:0003307 biolink:PhenotypicFeature HP:0004440 biolink:PhenotypicFeature HP:0007266 biolink:PhenotypicFeature Orphanet:90039 biolink:Disease Hemoglobin D disease HP:0005560 biolink:PhenotypicFeature HP:0011902 biolink:PhenotypicFeature HP:0011905 biolink:PhenotypicFeature HP:0011906 biolink:PhenotypicFeature HP:0011907 biolink:PhenotypicFeature HP:0025066 biolink:PhenotypicFeature HP:0025547 biolink:PhenotypicFeature HP:0045048 biolink:PhenotypicFeature HP:0030058 biolink:PhenotypicFeature HP:0045047 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature Orphanet:95430 biolink:Disease Congenital tracheomalacia HP:0002779 biolink:PhenotypicFeature HP:0004468 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0010307 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0032355 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0000973 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001686 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002032 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002107 biolink:PhenotypicFeature HP:0002575 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0030864 biolink:PhenotypicFeature HP:0030966 biolink:PhenotypicFeature HP:0031245 biolink:PhenotypicFeature HP:0032177 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001636 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001750 biolink:PhenotypicFeature HP:0002089 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002097 biolink:PhenotypicFeature HP:0002104 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002780 biolink:PhenotypicFeature HP:0002786 biolink:PhenotypicFeature HP:0010773 biolink:PhenotypicFeature HP:0011590 biolink:PhenotypicFeature HP:0012020 biolink:PhenotypicFeature Orphanet:97339 biolink:Disease Dural sinus malformation HP:0000238 biolink:PhenotypicFeature HP:0001977 biolink:PhenotypicFeature HP:0004947 biolink:PhenotypicFeature HP:0008629 biolink:PhenotypicFeature HP:0030724 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000504 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000932 biolink:PhenotypicFeature HP:0001085 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001317 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0002017 biolink:PhenotypicFeature HP:0002138 biolink:PhenotypicFeature HP:0002170 biolink:PhenotypicFeature HP:0002196 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002370 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0007906 biolink:PhenotypicFeature HP:0011342 biolink:PhenotypicFeature HP:0011695 biolink:PhenotypicFeature HP:0012375 biolink:PhenotypicFeature HP:0031157 biolink:PhenotypicFeature HP:0100309 biolink:PhenotypicFeature HP:3000043 biolink:PhenotypicFeature HP:0000651 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001300 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002181 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0007333 biolink:PhenotypicFeature HP:0011343 biolink:PhenotypicFeature HP:0030766 biolink:PhenotypicFeature Orphanet:98856 biolink:Disease Charcot-Marie-Tooth disease type 2B1 HP:0002936 biolink:PhenotypicFeature HP:0003380 biolink:PhenotypicFeature HP:0003390 biolink:PhenotypicFeature HP:0003447 biolink:PhenotypicFeature HP:0003482 biolink:PhenotypicFeature HP:0007002 biolink:PhenotypicFeature HP:0007078 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0040078 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001765 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0003387 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0007149 biolink:PhenotypicFeature HP:0008956 biolink:PhenotypicFeature HP:0008959 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0009049 biolink:PhenotypicFeature HP:0009130 biolink:PhenotypicFeature HP:0011916 biolink:PhenotypicFeature HP:0030237 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003724 biolink:PhenotypicFeature HP:0007126 biolink:PhenotypicFeature HP:0007249 biolink:PhenotypicFeature HP:0008988 biolink:PhenotypicFeature HP:0003431 biolink:PhenotypicFeature HP:0007233 biolink:PhenotypicFeature Orphanet:98962 biolink:Disease Granular corneal dystrophy type I HP:0000531 biolink:PhenotypicFeature HP:0007881 biolink:PhenotypicFeature HP:0000495 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0011493 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0008039 biolink:PhenotypicFeature HP:0011495 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature Orphanet:35173 biolink:Disease X-linked dominant chondrodysplasia punctata HP:0000951 biolink:PhenotypicFeature HP:0010655 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000929 biolink:PhenotypicFeature HP:0001019 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004468 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0006619 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0100559 biolink:PhenotypicFeature HP:0100560 biolink:PhenotypicFeature HP:0100569 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000653 biolink:PhenotypicFeature HP:0001197 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0001998 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0002208 biolink:PhenotypicFeature HP:0002232 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0002999 biolink:PhenotypicFeature HP:0004552 biolink:PhenotypicFeature HP:0005756 biolink:PhenotypicFeature HP:0008434 biolink:PhenotypicFeature HP:0008443 biolink:PhenotypicFeature HP:0008850 biolink:PhenotypicFeature HP:0010720 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000377 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0100702 biolink:PhenotypicFeature Orphanet:596 biolink:Disease X-linked centronuclear myopathy HP:0003755 biolink:PhenotypicFeature HP:0030917 biolink:PhenotypicFeature HP:0000478 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0003687 biolink:PhenotypicFeature HP:0004887 biolink:PhenotypicFeature HP:0006829 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0030192 biolink:PhenotypicFeature HP:0030195 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0031238 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000268 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature Orphanet:3406 biolink:Disease Ulerythema ophryogenesis HP:0001041 biolink:PhenotypicFeature HP:0005338 biolink:PhenotypicFeature HP:0007502 biolink:PhenotypicFeature HP:0030350 biolink:PhenotypicFeature HP:0032152 biolink:PhenotypicFeature HP:0045059 biolink:PhenotypicFeature HP:0000290 biolink:PhenotypicFeature HP:0000306 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0004334 biolink:PhenotypicFeature HP:0004426 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0005268 biolink:PhenotypicFeature HP:0032282 biolink:PhenotypicFeature Orphanet:94086 biolink:Disease Blue diaper syndrome HP:0040317 biolink:PhenotypicFeature HP:0000121 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0003072 biolink:PhenotypicFeature HP:0004324 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0001988 biolink:PhenotypicFeature HP:0002905 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0002925 biolink:PhenotypicFeature HP:0031507 biolink:PhenotypicFeature HP:0031883 biolink:PhenotypicFeature Orphanet:91495 biolink:Disease Persistent hyperplastic primary vitreous HP:0007968 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000555 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0007917 biolink:PhenotypicFeature HP:0009917 biolink:PhenotypicFeature HP:0012109 biolink:PhenotypicFeature HP:0030743 biolink:PhenotypicFeature HP:0030744 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000557 biolink:PhenotypicFeature HP:0000594 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000667 biolink:PhenotypicFeature HP:0001104 biolink:PhenotypicFeature HP:0008052 biolink:PhenotypicFeature HP:0009926 biolink:PhenotypicFeature HP:0011885 biolink:PhenotypicFeature HP:0010766 biolink:PhenotypicFeature Orphanet:93108 biolink:Disease Renal dysplasia HP:0000003 biolink:PhenotypicFeature HP:0000009 biolink:PhenotypicFeature HP:0000091 biolink:PhenotypicFeature HP:0008678 biolink:PhenotypicFeature HP:0011130 biolink:PhenotypicFeature HP:0012575 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000070 biolink:PhenotypicFeature HP:0000072 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000105 biolink:PhenotypicFeature HP:0000126 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0004722 biolink:PhenotypicFeature HP:0005999 biolink:PhenotypicFeature HP:0012300 biolink:PhenotypicFeature HP:0012330 biolink:PhenotypicFeature HP:0012596 biolink:PhenotypicFeature HP:0030157 biolink:PhenotypicFeature HP:0031500 biolink:PhenotypicFeature HP:0031501 biolink:PhenotypicFeature HP:0001586 biolink:PhenotypicFeature HP:0010957 biolink:PhenotypicFeature Orphanet:166119 biolink:Disease Isolated osteopoikilosis HP:0011001 biolink:PhenotypicFeature HP:0011849 biolink:PhenotypicFeature HP:0040068 biolink:PhenotypicFeature HP:0004289 biolink:PhenotypicFeature HP:0009106 biolink:PhenotypicFeature HP:0011314 biolink:PhenotypicFeature HP:0040163 biolink:PhenotypicFeature HP:0100774 biolink:PhenotypicFeature HP:0100925 biolink:PhenotypicFeature HP:0000620 biolink:PhenotypicFeature HP:0001376 biolink:PhenotypicFeature HP:0001387 biolink:PhenotypicFeature HP:0001474 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002823 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0004240 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0030838 biolink:PhenotypicFeature HP:0030840 biolink:PhenotypicFeature HP:0030955 biolink:PhenotypicFeature HP:0031051 biolink:PhenotypicFeature HP:0032148 biolink:PhenotypicFeature HP:0100569 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000818 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0007417 biolink:PhenotypicFeature HP:0010562 biolink:PhenotypicFeature HP:0100324 biolink:PhenotypicFeature Orphanet:99867 biolink:Disease Thymoma HP:0001824 biolink:PhenotypicFeature HP:0031378 biolink:PhenotypicFeature HP:0031409 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002664 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0030166 biolink:PhenotypicFeature HP:0030208 biolink:PhenotypicFeature HP:0045026 biolink:PhenotypicFeature HP:0000099 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001370 biolink:PhenotypicFeature HP:0001909 biolink:PhenotypicFeature HP:0001915 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0005560 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0007378 biolink:PhenotypicFeature HP:0012288 biolink:PhenotypicFeature HP:0012410 biolink:PhenotypicFeature HP:0012539 biolink:PhenotypicFeature HP:0031041 biolink:PhenotypicFeature HP:0100031 biolink:PhenotypicFeature HP:0100279 biolink:PhenotypicFeature HP:0100324 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature HP:0100527 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0100787 biolink:PhenotypicFeature Orphanet:91139 biolink:Disease Simple cryoglobulinemia HP:0000979 biolink:PhenotypicFeature HP:0001871 biolink:PhenotypicFeature HP:0410135 biolink:PhenotypicFeature HP:0001955 biolink:PhenotypicFeature HP:0003496 biolink:PhenotypicFeature HP:0006121 biolink:PhenotypicFeature HP:0007067 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011355 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0031047 biolink:PhenotypicFeature HP:0032018 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000793 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002633 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002907 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0005508 biolink:PhenotypicFeature HP:0006775 biolink:PhenotypicFeature HP:0010833 biolink:PhenotypicFeature HP:0011276 biolink:PhenotypicFeature HP:0012191 biolink:PhenotypicFeature HP:0012574 biolink:PhenotypicFeature HP:0032290 biolink:PhenotypicFeature HP:0000100 biolink:PhenotypicFeature HP:0000123 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002088 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002344 biolink:PhenotypicFeature HP:0002923 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0004431 biolink:PhenotypicFeature HP:0005550 biolink:PhenotypicFeature HP:0006562 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0011024 biolink:PhenotypicFeature HP:0032335 biolink:PhenotypicFeature Orphanet:91359 biolink:Disease Chronic pneumonitis of infancy HP:0001508 biolink:PhenotypicFeature HP:0002207 biolink:PhenotypicFeature HP:0002883 biolink:PhenotypicFeature HP:0012418 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025179 biolink:PhenotypicFeature HP:0032341 biolink:PhenotypicFeature HP:0000961 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002789 biolink:PhenotypicFeature HP:0030864 biolink:PhenotypicFeature HP:0100721 biolink:PhenotypicFeature Orphanet:91411 biolink:Disease Congenital ptosis HP:0001477 biolink:PhenotypicFeature HP:0007687 biolink:PhenotypicFeature HP:0007911 biolink:PhenotypicFeature HP:0007946 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000539 biolink:PhenotypicFeature HP:0000545 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0009058 biolink:PhenotypicFeature HP:0012803 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000527 biolink:PhenotypicFeature HP:0000537 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000602 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0000970 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001491 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002003 biolink:PhenotypicFeature HP:0005487 biolink:PhenotypicFeature HP:0006837 biolink:PhenotypicFeature HP:0007188 biolink:PhenotypicFeature HP:0007544 biolink:PhenotypicFeature HP:0007728 biolink:PhenotypicFeature HP:0008209 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature Orphanet:91412 biolink:Disease Marcus-Gunn syndrome HP:0025186 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0007687 biolink:PhenotypicFeature HP:0010824 biolink:PhenotypicFeature HP:0025584 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0012803 biolink:PhenotypicFeature HP:0020041 biolink:PhenotypicFeature HP:0031747 biolink:PhenotypicFeature HP:0000078 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0004408 biolink:PhenotypicFeature HP:0025514 biolink:PhenotypicFeature HP:0031703 biolink:PhenotypicFeature HP:0410030 biolink:PhenotypicFeature Orphanet:90362 biolink:Disease Primary intestinal lymphangiectasia HP:0000969 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002593 biolink:PhenotypicFeature HP:0005387 biolink:PhenotypicFeature HP:0012719 biolink:PhenotypicFeature HP:0100766 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003075 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0011472 biolink:PhenotypicFeature HP:0100508 biolink:PhenotypicFeature HP:0001281 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002720 biolink:PhenotypicFeature HP:0002850 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002917 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0004315 biolink:PhenotypicFeature HP:0007430 biolink:PhenotypicFeature HP:0025624 biolink:PhenotypicFeature HP:0030995 biolink:PhenotypicFeature HP:0031686 biolink:PhenotypicFeature HP:0031690 biolink:PhenotypicFeature HP:0045080 biolink:PhenotypicFeature HP:0100512 biolink:PhenotypicFeature HP:0032160 biolink:PhenotypicFeature HP:0032215 biolink:PhenotypicFeature Orphanet:425 biolink:Disease Apolipoprotein A-I deficiency HP:0002621 biolink:PhenotypicFeature HP:0003119 biolink:PhenotypicFeature HP:0003233 biolink:PhenotypicFeature HP:0007759 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0000991 biolink:PhenotypicFeature HP:0001114 biolink:PhenotypicFeature HP:0001681 biolink:PhenotypicFeature HP:0005181 biolink:PhenotypicFeature Orphanet:100974 biolink:Disease FRAXF syndrome HP:0003564 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000118 biolink:PhenotypicFeature Orphanet:100057 biolink:Disease Renin-angiotensin-aldosterone system-blocker-induced angioedema HP:0100665 biolink:PhenotypicFeature HP:0000282 biolink:PhenotypicFeature HP:0025018 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0031244 biolink:PhenotypicFeature HP:0040315 biolink:PhenotypicFeature HP:0100540 biolink:PhenotypicFeature HP:0002781 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0011855 biolink:PhenotypicFeature HP:0012027 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature Orphanet:99931 biolink:Disease Idiopathic pulmonary hemosiderosis HP:0001891 biolink:PhenotypicFeature HP:0000980 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0002105 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012735 biolink:PhenotypicFeature HP:0025179 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002206 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0002923 biolink:PhenotypicFeature HP:0003262 biolink:PhenotypicFeature HP:0003453 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0012393 biolink:PhenotypicFeature HP:0025390 biolink:PhenotypicFeature HP:0025392 biolink:PhenotypicFeature HP:0025420 biolink:PhenotypicFeature HP:0030057 biolink:PhenotypicFeature HP:0030148 biolink:PhenotypicFeature HP:0030830 biolink:PhenotypicFeature HP:0000099 biolink:PhenotypicFeature HP:0100327 biolink:PhenotypicFeature Orphanet:99845 biolink:Disease Genetic recurrent myoglobinuria HP:0003652 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0030234 biolink:PhenotypicFeature HP:0040319 biolink:PhenotypicFeature HP:0000083 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003554 biolink:PhenotypicFeature HP:0003558 biolink:PhenotypicFeature HP:0003738 biolink:PhenotypicFeature HP:0008305 biolink:PhenotypicFeature HP:0010969 biolink:PhenotypicFeature HP:0012544 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0100614 biolink:PhenotypicFeature HP:0000467 biolink:PhenotypicFeature HP:0001919 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002167 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002901 biolink:PhenotypicFeature HP:0002905 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0005216 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0030195 biolink:PhenotypicFeature HP:0045037 biolink:PhenotypicFeature HP:0100520 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature Orphanet:99956 biolink:Disease Charcot-Marie-Tooth disease type 4B2 HP:0001760 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002522 biolink:PhenotypicFeature HP:0004336 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0007230 biolink:PhenotypicFeature HP:0007340 biolink:PhenotypicFeature HP:0008959 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0001605 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0012046 biolink:PhenotypicFeature HP:0000183 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000557 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001026 biolink:PhenotypicFeature HP:0001087 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002792 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0012473 biolink:PhenotypicFeature HP:0030237 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature HP:0040083 biolink:PhenotypicFeature Orphanet:99948 biolink:Disease Charcot-Marie-Tooth disease type 4A HP:0000762 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003457 biolink:PhenotypicFeature HP:0003693 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0007015 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001604 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001765 biolink:PhenotypicFeature HP:0001776 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0003387 biolink:PhenotypicFeature HP:0006064 biolink:PhenotypicFeature HP:0006248 biolink:PhenotypicFeature HP:0006858 biolink:PhenotypicFeature HP:0006886 biolink:PhenotypicFeature HP:0006937 biolink:PhenotypicFeature HP:0007267 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0009072 biolink:PhenotypicFeature HP:0009473 biolink:PhenotypicFeature HP:0012391 biolink:PhenotypicFeature HP:0030237 biolink:PhenotypicFeature HP:0002091 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0003547 biolink:PhenotypicFeature HP:0003731 biolink:PhenotypicFeature HP:0007108 biolink:PhenotypicFeature HP:0008443 biolink:PhenotypicFeature HP:0008935 biolink:PhenotypicFeature HP:0009109 biolink:PhenotypicFeature HP:0012078 biolink:PhenotypicFeature HP:0030319 biolink:PhenotypicFeature Orphanet:99094 biolink:Disease Laubry-Pezzi syndrome HP:0001629 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0025578 biolink:PhenotypicFeature HP:0031567 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002875 biolink:PhenotypicFeature HP:0006704 biolink:PhenotypicFeature HP:0011645 biolink:PhenotypicFeature HP:0011681 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012663 biolink:PhenotypicFeature HP:0031668 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0004970 biolink:PhenotypicFeature HP:0011682 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0001705 biolink:PhenotypicFeature HP:0004890 biolink:PhenotypicFeature Orphanet:98974 biolink:Disease Fuchs endothelial corneal dystrophy HP:0000969 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0011488 biolink:PhenotypicFeature HP:0011490 biolink:PhenotypicFeature HP:0011491 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000662 biolink:PhenotypicFeature HP:0030857 biolink:PhenotypicFeature Orphanet:99646 biolink:Disease Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria HP:0012321 biolink:PhenotypicFeature HP:0003016 biolink:PhenotypicFeature HP:0003025 biolink:PhenotypicFeature HP:0005701 biolink:PhenotypicFeature HP:0005868 biolink:PhenotypicFeature HP:0011849 biolink:PhenotypicFeature HP:0000926 biolink:PhenotypicFeature HP:0001367 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001511 biolink:PhenotypicFeature HP:0003021 biolink:PhenotypicFeature HP:0003301 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0009803 biolink:PhenotypicFeature HP:0030294 biolink:PhenotypicFeature HP:0030295 biolink:PhenotypicFeature HP:0030296 biolink:PhenotypicFeature HP:0030297 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000278 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000470 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000506 biolink:PhenotypicFeature HP:0000519 biolink:PhenotypicFeature HP:0000666 biolink:PhenotypicFeature HP:0000914 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001048 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001601 biolink:PhenotypicFeature HP:0001684 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002453 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0002828 biolink:PhenotypicFeature HP:0002970 biolink:PhenotypicFeature HP:0003029 biolink:PhenotypicFeature HP:0003796 biolink:PhenotypicFeature HP:0004242 biolink:PhenotypicFeature HP:0004626 biolink:PhenotypicFeature HP:0004820 biolink:PhenotypicFeature HP:0004948 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0006610 biolink:PhenotypicFeature HP:0007033 biolink:PhenotypicFeature HP:0007361 biolink:PhenotypicFeature HP:0007375 biolink:PhenotypicFeature HP:0007486 biolink:PhenotypicFeature HP:0010576 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0011681 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0012762 biolink:PhenotypicFeature HP:0012766 biolink:PhenotypicFeature HP:0025473 biolink:PhenotypicFeature HP:0030866 biolink:PhenotypicFeature HP:0100255 biolink:PhenotypicFeature HP:0100764 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature Orphanet:99095 biolink:Disease Congenital Gerbode defect HP:0001629 biolink:PhenotypicFeature HP:0012382 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001667 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0001785 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0001962 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0005168 biolink:PhenotypicFeature HP:0006689 biolink:PhenotypicFeature HP:0011682 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012398 biolink:PhenotypicFeature HP:0030718 biolink:PhenotypicFeature HP:0030830 biolink:PhenotypicFeature HP:0031443 biolink:PhenotypicFeature HP:0031664 biolink:PhenotypicFeature HP:0031667 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002563 biolink:PhenotypicFeature HP:0002617 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0030848 biolink:PhenotypicFeature HP:0100749 biolink:PhenotypicFeature Orphanet:96253 biolink:Disease Cushing disease HP:0003118 biolink:PhenotypicFeature HP:0003466 biolink:PhenotypicFeature HP:0008291 biolink:PhenotypicFeature HP:0012030 biolink:PhenotypicFeature HP:0000141 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0000963 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001050 biolink:PhenotypicFeature HP:0001058 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001065 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0001626 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0001956 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0003154 biolink:PhenotypicFeature HP:0004324 biolink:PhenotypicFeature HP:0007126 biolink:PhenotypicFeature HP:0008221 biolink:PhenotypicFeature HP:0010284 biolink:PhenotypicFeature HP:0012743 biolink:PhenotypicFeature HP:0025017 biolink:PhenotypicFeature HP:0025383 biolink:PhenotypicFeature HP:0030200 biolink:PhenotypicFeature HP:0031891 biolink:PhenotypicFeature HP:0040270 biolink:PhenotypicFeature HP:0500011 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000725 biolink:PhenotypicFeature HP:0000869 biolink:PhenotypicFeature HP:0000876 biolink:PhenotypicFeature HP:0000979 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001658 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002690 biolink:PhenotypicFeature HP:0002953 biolink:PhenotypicFeature HP:0011370 biolink:PhenotypicFeature HP:0031284 biolink:PhenotypicFeature HP:0031364 biolink:PhenotypicFeature HP:0031589 biolink:PhenotypicFeature HP:0031845 biolink:PhenotypicFeature HP:0200042 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0001123 biolink:PhenotypicFeature HP:0007807 biolink:PhenotypicFeature HP:0010741 biolink:PhenotypicFeature HP:0010885 biolink:PhenotypicFeature HP:0011999 biolink:PhenotypicFeature HP:0025269 biolink:PhenotypicFeature Orphanet:98963 biolink:Disease Granular corneal dystrophy type II HP:0000531 biolink:PhenotypicFeature HP:0007802 biolink:PhenotypicFeature HP:0011493 biolink:PhenotypicFeature HP:0000505 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0007759 biolink:PhenotypicFeature HP:0008039 biolink:PhenotypicFeature HP:0000495 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature Orphanet:189427 biolink:Disease Cushing syndrome due to macronodular adrenal hyperplasia HP:0008231 biolink:PhenotypicFeature HP:0002920 biolink:PhenotypicFeature HP:0500011 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0000858 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0000978 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001050 biolink:PhenotypicFeature HP:0001065 biolink:PhenotypicFeature HP:0001952 biolink:PhenotypicFeature HP:0003077 biolink:PhenotypicFeature HP:0003118 biolink:PhenotypicFeature HP:0003466 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0007126 biolink:PhenotypicFeature HP:0012030 biolink:PhenotypicFeature HP:0012743 biolink:PhenotypicFeature HP:0025383 biolink:PhenotypicFeature HP:0031077 biolink:PhenotypicFeature HP:0031845 biolink:PhenotypicFeature HP:0000725 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002659 biolink:PhenotypicFeature HP:0004324 biolink:PhenotypicFeature HP:0100754 biolink:PhenotypicFeature HP:0000859 biolink:PhenotypicFeature HP:0002858 biolink:PhenotypicFeature HP:0002893 biolink:PhenotypicFeature HP:0005584 biolink:PhenotypicFeature HP:0008200 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100634 biolink:PhenotypicFeature Orphanet:363705 biolink:Disease Craniofaciofrontodigital syndrome HP:0000280 biolink:PhenotypicFeature HP:0000998 biolink:PhenotypicFeature HP:0004540 biolink:PhenotypicFeature HP:0100874 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0000973 biolink:PhenotypicFeature HP:0001015 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001388 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001640 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001698 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0003546 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0007517 biolink:PhenotypicFeature HP:0030890 biolink:PhenotypicFeature HP:0100678 biolink:PhenotypicFeature HP:0000158 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000294 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000768 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0001520 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0001650 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001654 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002579 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002652 biolink:PhenotypicFeature HP:0002708 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004532 biolink:PhenotypicFeature HP:0004944 biolink:PhenotypicFeature HP:0005314 biolink:PhenotypicFeature HP:0006094 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0011726 biolink:PhenotypicFeature HP:0012471 biolink:PhenotypicFeature HP:0012568 biolink:PhenotypicFeature HP:0100659 biolink:PhenotypicFeature HP:0100790 biolink:PhenotypicFeature HP:0000212 biolink:PhenotypicFeature HP:0000938 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0001176 biolink:PhenotypicFeature HP:0001256 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001631 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001680 biolink:PhenotypicFeature HP:0002021 biolink:PhenotypicFeature Orphanet:141152 biolink:Disease Isolated congenital hypoglossia/aglossia HP:0000750 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0011470 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0000171 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002098 biolink:PhenotypicFeature HP:0002781 biolink:PhenotypicFeature HP:0006265 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0000175 biolink:PhenotypicFeature HP:0005483 biolink:PhenotypicFeature HP:0010566 biolink:PhenotypicFeature HP:0011951 biolink:PhenotypicFeature HP:0012478 biolink:PhenotypicFeature Orphanet:158048 biolink:Disease Hemophagocytic syndrome associated with an infection HP:0012156 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0012647 biolink:PhenotypicFeature HP:0025540 biolink:PhenotypicFeature HP:0031406 biolink:PhenotypicFeature HP:0031691 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003281 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature HP:0011900 biolink:PhenotypicFeature HP:0032204 biolink:PhenotypicFeature HP:0040089 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002152 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature HP:0012229 biolink:PhenotypicFeature HP:0020101 biolink:PhenotypicFeature HP:0030891 biolink:PhenotypicFeature HP:0031179 biolink:PhenotypicFeature HP:0031692 biolink:PhenotypicFeature HP:0032260 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0031700 biolink:PhenotypicFeature HP:0032256 biolink:PhenotypicFeature Orphanet:79456 biolink:Disease Diffuse cutaneous mastocytosis HP:0001743 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0005547 biolink:PhenotypicFeature HP:0005561 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature HP:0025081 biolink:PhenotypicFeature HP:0031284 biolink:PhenotypicFeature HP:0031901 biolink:PhenotypicFeature HP:0001025 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0004395 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0025533 biolink:PhenotypicFeature HP:0100827 biolink:PhenotypicFeature HP:0100845 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0001019 biolink:PhenotypicFeature HP:0001392 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002239 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0009123 biolink:PhenotypicFeature HP:0011971 biolink:PhenotypicFeature HP:0030828 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature Orphanet:141099 biolink:Disease Proboscis lateralis HP:0000245 biolink:PhenotypicFeature HP:0012806 biolink:PhenotypicFeature HP:0000625 biolink:PhenotypicFeature HP:0002011 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0009932 biolink:PhenotypicFeature HP:0011821 biolink:PhenotypicFeature HP:0012372 biolink:PhenotypicFeature HP:0032039 biolink:PhenotypicFeature HP:0430023 biolink:PhenotypicFeature HP:0000202 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000337 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000534 biolink:PhenotypicFeature HP:0000567 biolink:PhenotypicFeature HP:0000579 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000614 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001360 biolink:PhenotypicFeature HP:0003241 biolink:PhenotypicFeature HP:0007957 biolink:PhenotypicFeature HP:0009117 biolink:PhenotypicFeature HP:0040296 biolink:PhenotypicFeature HP:0430005 biolink:PhenotypicFeature HP:3000030 biolink:PhenotypicFeature HP:0000122 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000453 biolink:PhenotypicFeature HP:0000482 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000520 biolink:PhenotypicFeature HP:0000528 biolink:PhenotypicFeature HP:0000568 biolink:PhenotypicFeature HP:0000588 biolink:PhenotypicFeature HP:0001144 biolink:PhenotypicFeature HP:0001629 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0005580 biolink:PhenotypicFeature HP:0007946 biolink:PhenotypicFeature HP:0009914 biolink:PhenotypicFeature HP:0012300 biolink:PhenotypicFeature HP:0012738 biolink:PhenotypicFeature Orphanet:141083 biolink:Disease Nasolacrimal duct cyst HP:0000579 biolink:PhenotypicFeature HP:0000620 biolink:PhenotypicFeature HP:0001742 biolink:PhenotypicFeature HP:0009926 biolink:PhenotypicFeature HP:0012763 biolink:PhenotypicFeature HP:0030215 biolink:PhenotypicFeature HP:0030829 biolink:PhenotypicFeature HP:3000066 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002033 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0004411 biolink:PhenotypicFeature HP:0004885 biolink:PhenotypicFeature HP:0007651 biolink:PhenotypicFeature HP:0007717 biolink:PhenotypicFeature HP:0010307 biolink:PhenotypicFeature HP:0025337 biolink:PhenotypicFeature HP:0025612 biolink:PhenotypicFeature HP:0030752 biolink:PhenotypicFeature HP:0030864 biolink:PhenotypicFeature HP:0045025 biolink:PhenotypicFeature HP:0100539 biolink:PhenotypicFeature HP:0100658 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature Orphanet:79455 biolink:Disease Cutaneous mastocytoma HP:0025081 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001034 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0025473 biolink:PhenotypicFeature HP:0025533 biolink:PhenotypicFeature HP:0030350 biolink:PhenotypicFeature HP:0040186 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002615 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0031284 biolink:PhenotypicFeature HP:0031901 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0100585 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0007583 biolink:PhenotypicFeature HP:0011971 biolink:PhenotypicFeature HP:0100665 biolink:PhenotypicFeature HP:0100845 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature Orphanet:79480 biolink:Disease Pemphigus erythematosus HP:0002960 biolink:PhenotypicFeature HP:0011355 biolink:PhenotypicFeature HP:0025300 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0100792 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0031540 biolink:PhenotypicFeature HP:0000155 biolink:PhenotypicFeature HP:0001053 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0007510 biolink:PhenotypicFeature HP:0030208 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature Orphanet:79481 biolink:Disease Pemphigus foliaceus HP:0002960 biolink:PhenotypicFeature HP:0100792 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0001965 biolink:PhenotypicFeature HP:0007473 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0200041 biolink:PhenotypicFeature HP:0000155 biolink:PhenotypicFeature HP:0001019 biolink:PhenotypicFeature HP:0011830 biolink:PhenotypicFeature HP:0200037 biolink:PhenotypicFeature HP:0003765 biolink:PhenotypicFeature HP:0004377 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0025527 biolink:PhenotypicFeature HP:0025528 biolink:PhenotypicFeature HP:0200039 biolink:PhenotypicFeature Orphanet:139431 biolink:Disease Jeavons syndrome HP:0002121 biolink:PhenotypicFeature HP:0011168 biolink:PhenotypicFeature HP:0002123 biolink:PhenotypicFeature HP:0010852 biolink:PhenotypicFeature HP:0010858 biolink:PhenotypicFeature HP:0011185 biolink:PhenotypicFeature HP:0011193 biolink:PhenotypicFeature HP:0020216 biolink:PhenotypicFeature HP:0025190 biolink:PhenotypicFeature HP:0045084 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0002373 biolink:PhenotypicFeature HP:0002457 biolink:PhenotypicFeature HP:0007704 biolink:PhenotypicFeature HP:0010819 biolink:PhenotypicFeature HP:0010850 biolink:PhenotypicFeature HP:0011182 biolink:PhenotypicFeature HP:0012001 biolink:PhenotypicFeature HP:0010818 biolink:PhenotypicFeature HP:0031491 biolink:PhenotypicFeature Orphanet:90363 biolink:Disease Secondary intestinal lymphangiectasia HP:0001004 biolink:PhenotypicFeature HP:0031686 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001888 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0003146 biolink:PhenotypicFeature HP:0004788 biolink:PhenotypicFeature HP:0011741 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002202 biolink:PhenotypicFeature HP:0002563 biolink:PhenotypicFeature HP:0002608 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0002720 biolink:PhenotypicFeature HP:0002850 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0004313 biolink:PhenotypicFeature HP:0011848 biolink:PhenotypicFeature HP:0011900 biolink:PhenotypicFeature HP:0012050 biolink:PhenotypicFeature HP:0012281 biolink:PhenotypicFeature HP:0012537 biolink:PhenotypicFeature HP:0031085 biolink:PhenotypicFeature HP:0032064 biolink:PhenotypicFeature HP:0032136 biolink:PhenotypicFeature HP:0032387 biolink:PhenotypicFeature HP:0100324 biolink:PhenotypicFeature HP:0001708 biolink:PhenotypicFeature HP:0001907 biolink:PhenotypicFeature HP:0002576 biolink:PhenotypicFeature HP:0002580 biolink:PhenotypicFeature HP:0002584 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0005214 biolink:PhenotypicFeature HP:0012191 biolink:PhenotypicFeature Orphanet:137605 biolink:Disease Legius syndrome HP:0007565 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000997 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0030052 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000766 biolink:PhenotypicFeature HP:0001012 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000787 biolink:PhenotypicFeature HP:0001114 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001642 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004845 biolink:PhenotypicFeature HP:0006671 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007099 biolink:PhenotypicFeature HP:0009588 biolink:PhenotypicFeature HP:0010442 biolink:PhenotypicFeature HP:0030358 biolink:PhenotypicFeature HP:0032077 biolink:PhenotypicFeature HP:0100245 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0100615 biolink:PhenotypicFeature HP:0410263 biolink:PhenotypicFeature HP:0001067 biolink:PhenotypicFeature HP:0009734 biolink:PhenotypicFeature HP:0009737 biolink:PhenotypicFeature HP:0100006 biolink:PhenotypicFeature HP:0100252 biolink:PhenotypicFeature Orphanet:139417 biolink:Disease Acute transverse myelitis HP:0001324 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0012229 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0000016 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001278 biolink:PhenotypicFeature HP:0001287 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002138 biolink:PhenotypicFeature HP:0002385 biolink:PhenotypicFeature HP:0002493 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0002578 biolink:PhenotypicFeature HP:0002590 biolink:PhenotypicFeature HP:0002721 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003401 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0004370 biolink:PhenotypicFeature HP:0005341 biolink:PhenotypicFeature HP:0007305 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0010547 biolink:PhenotypicFeature HP:0010550 biolink:PhenotypicFeature HP:0010831 biolink:PhenotypicFeature HP:0010835 biolink:PhenotypicFeature HP:0011967 biolink:PhenotypicFeature HP:0011972 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012534 biolink:PhenotypicFeature HP:0025615 biolink:PhenotypicFeature HP:0031179 biolink:PhenotypicFeature HP:0031691 biolink:PhenotypicFeature HP:0031700 biolink:PhenotypicFeature HP:0031845 biolink:PhenotypicFeature HP:0032271 biolink:PhenotypicFeature HP:0032283 biolink:PhenotypicFeature HP:0100502 biolink:PhenotypicFeature HP:0200023 biolink:PhenotypicFeature Orphanet:103909 biolink:Disease Trehalase deficiency HP:0012379 biolink:PhenotypicFeature HP:0000118 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature Orphanet:103918 biolink:Disease Tropical pancreatitis HP:0005213 biolink:PhenotypicFeature HP:0005236 biolink:PhenotypicFeature HP:0410019 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0008205 biolink:PhenotypicFeature HP:0030992 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001824 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0004395 biolink:PhenotypicFeature HP:0006725 biolink:PhenotypicFeature HP:0009800 biolink:PhenotypicFeature Orphanet:101097 biolink:Disease Autosomal recessive Charcot-Marie-Tooth disease with hoarseness HP:0000764 biolink:PhenotypicFeature HP:0002495 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003447 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007249 biolink:PhenotypicFeature HP:0007267 biolink:PhenotypicFeature HP:0007328 biolink:PhenotypicFeature HP:0008959 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0010830 biolink:PhenotypicFeature HP:0011096 biolink:PhenotypicFeature HP:0000925 biolink:PhenotypicFeature HP:0001171 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001604 biolink:PhenotypicFeature HP:0001609 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0001762 biolink:PhenotypicFeature HP:0002317 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0002505 biolink:PhenotypicFeature HP:0003731 biolink:PhenotypicFeature HP:0006858 biolink:PhenotypicFeature HP:0007233 biolink:PhenotypicFeature HP:0008954 biolink:PhenotypicFeature HP:0011727 biolink:PhenotypicFeature HP:0030237 biolink:PhenotypicFeature HP:0031629 biolink:PhenotypicFeature HP:0000765 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0000762 biolink:PhenotypicFeature Orphanet:103907 biolink:Disease Chronic diarrhea due to glucoamylase deficiency HP:0012379 biolink:PhenotypicFeature HP:0002024 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0025129 biolink:PhenotypicFeature HP:0025130 biolink:PhenotypicFeature HP:0410281 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002028 biolink:PhenotypicFeature HP:0003270 biolink:PhenotypicFeature Orphanet:199354 biolink:Disease Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy HP:0000708 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002401 biolink:PhenotypicFeature HP:0002497 biolink:PhenotypicFeature HP:0002634 biolink:PhenotypicFeature HP:0003418 biolink:PhenotypicFeature HP:0007024 biolink:PhenotypicFeature HP:0008480 biolink:PhenotypicFeature HP:0012514 biolink:PhenotypicFeature HP:0030892 biolink:PhenotypicFeature HP:0040161 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0000741 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002293 biolink:PhenotypicFeature HP:0002506 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0012671 biolink:PhenotypicFeature HP:0012672 biolink:PhenotypicFeature HP:0030833 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002751 biolink:PhenotypicFeature HP:0003657 biolink:PhenotypicFeature Orphanet:183675 biolink:Disease Recurrent infections associated with rare immunoglobulin isotypes deficiency HP:0002099 biolink:PhenotypicFeature HP:0002205 biolink:PhenotypicFeature HP:0002718 biolink:PhenotypicFeature HP:0002719 biolink:PhenotypicFeature HP:0002783 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0000010 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0001047 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0002090 biolink:PhenotypicFeature HP:0002110 biolink:PhenotypicFeature HP:0002720 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0002850 biolink:PhenotypicFeature HP:0003193 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0004315 biolink:PhenotypicFeature HP:0005231 biolink:PhenotypicFeature HP:0006532 biolink:PhenotypicFeature HP:0011109 biolink:PhenotypicFeature HP:0011110 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0012387 biolink:PhenotypicFeature HP:0020096 biolink:PhenotypicFeature HP:0000031 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0000988 biolink:PhenotypicFeature HP:0001082 biolink:PhenotypicFeature HP:0001370 biolink:PhenotypicFeature HP:0002608 biolink:PhenotypicFeature HP:0002665 biolink:PhenotypicFeature HP:0003765 biolink:PhenotypicFeature HP:0005353 biolink:PhenotypicFeature HP:0006562 biolink:PhenotypicFeature HP:0012476 biolink:PhenotypicFeature HP:0030151 biolink:PhenotypicFeature HP:0030998 biolink:PhenotypicFeature HP:0032262 biolink:PhenotypicFeature HP:0032275 biolink:PhenotypicFeature HP:0100324 biolink:PhenotypicFeature HP:0100523 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0500093 biolink:PhenotypicFeature Orphanet:171706 biolink:Disease Short stature-delayed bone age due to thyroid hormone metabolism deficiency HP:0012379 biolink:PhenotypicFeature HP:0002925 biolink:PhenotypicFeature HP:0031506 biolink:PhenotypicFeature HP:0032210 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0002750 biolink:PhenotypicFeature HP:0003162 biolink:PhenotypicFeature HP:0003391 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0012548 biolink:PhenotypicFeature HP:0031903 biolink:PhenotypicFeature HP:0040215 biolink:PhenotypicFeature Orphanet:178382 biolink:Disease Congenital vertical talus HP:0008138 biolink:PhenotypicFeature HP:0001436 biolink:PhenotypicFeature HP:0001771 biolink:PhenotypicFeature HP:0001838 biolink:PhenotypicFeature HP:0008081 biolink:PhenotypicFeature HP:0030311 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0005684 biolink:PhenotypicFeature HP:0025238 biolink:PhenotypicFeature HP:0002475 biolink:PhenotypicFeature HP:0030268 biolink:PhenotypicFeature HP:0030840 biolink:PhenotypicFeature Orphanet:168621 biolink:Disease Dysplasia of head of femur, Meyer type HP:0002750 biolink:PhenotypicFeature HP:0008829 biolink:PhenotypicFeature HP:0008835 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002515 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0008800 biolink:PhenotypicFeature HP:0012514 biolink:PhenotypicFeature HP:0031955 biolink:PhenotypicFeature HP:0001374 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0008812 biolink:PhenotypicFeature HP:0030812 biolink:PhenotypicFeature Orphanet:163921 biolink:Disease Posttransplant acute limbic encephalitis HP:0001250 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0011185 biolink:PhenotypicFeature HP:0012756 biolink:PhenotypicFeature HP:0020071 biolink:PhenotypicFeature HP:0031885 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0200149 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0011203 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0025100 biolink:PhenotypicFeature HP:0100022 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature Orphanet:87503 biolink:Disease Mal de Meleda HP:0000982 biolink:PhenotypicFeature HP:0001155 biolink:PhenotypicFeature HP:0001760 biolink:PhenotypicFeature HP:0007404 biolink:PhenotypicFeature HP:0011123 biolink:PhenotypicFeature HP:0031190 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001218 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0025092 biolink:PhenotypicFeature HP:0008064 biolink:PhenotypicFeature HP:0031452 biolink:PhenotypicFeature Orphanet:2199 biolink:Disease Epidermolytic palmoplantar keratoderma HP:0000972 biolink:PhenotypicFeature HP:0007543 biolink:PhenotypicFeature HP:0001217 biolink:PhenotypicFeature HP:0001220 biolink:PhenotypicFeature HP:0001231 biolink:PhenotypicFeature HP:0007447 biolink:PhenotypicFeature HP:0010765 biolink:PhenotypicFeature HP:0025092 biolink:PhenotypicFeature HP:0032541 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0010829 biolink:PhenotypicFeature HP:0010830 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0025114 biolink:PhenotypicFeature Orphanet:495 biolink:Disease Transgrediens et progrediens palmoplantar keratoderma HP:0007447 biolink:PhenotypicFeature HP:0000218 biolink:PhenotypicFeature HP:0001041 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001795 biolink:PhenotypicFeature HP:0001810 biolink:PhenotypicFeature HP:0005406 biolink:PhenotypicFeature HP:0007404 biolink:PhenotypicFeature HP:0007556 biolink:PhenotypicFeature HP:0008391 biolink:PhenotypicFeature HP:0010765 biolink:PhenotypicFeature HP:0011370 biolink:PhenotypicFeature HP:0012785 biolink:PhenotypicFeature HP:0030318 biolink:PhenotypicFeature HP:0001805 biolink:PhenotypicFeature HP:0009775 biolink:PhenotypicFeature HP:0025474 biolink:PhenotypicFeature HP:0031452 biolink:PhenotypicFeature Orphanet:79303 biolink:Disease Congenital bile acid synthesis defect type 2 HP:0002904 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0200084 biolink:PhenotypicFeature HP:0000952 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001978 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002570 biolink:PhenotypicFeature HP:0002630 biolink:PhenotypicFeature HP:0002908 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0003256 biolink:PhenotypicFeature HP:0003645 biolink:PhenotypicFeature HP:0006579 biolink:PhenotypicFeature HP:0008151 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0030984 biolink:PhenotypicFeature HP:0040319 biolink:PhenotypicFeature HP:0100513 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0002748 biolink:PhenotypicFeature HP:0011040 biolink:PhenotypicFeature Orphanet:79302 biolink:Disease Congenital bile acid synthesis defect type 3 HP:0000952 biolink:PhenotypicFeature HP:0001394 biolink:PhenotypicFeature HP:0001396 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001408 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0002630 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature HP:0003155 biolink:PhenotypicFeature HP:0031956 biolink:PhenotypicFeature HP:0031964 biolink:PhenotypicFeature HP:0100508 biolink:PhenotypicFeature Orphanet:79095 biolink:Disease Congenital bile acid synthesis defect type 4 HP:0003236 biolink:PhenotypicFeature HP:0005978 biolink:PhenotypicFeature HP:0011892 biolink:PhenotypicFeature HP:0030516 biolink:PhenotypicFeature HP:0100753 biolink:PhenotypicFeature HP:0200084 biolink:PhenotypicFeature HP:0012379 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0001328 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0000135 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000763 biolink:PhenotypicFeature HP:0001081 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002076 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002401 biolink:PhenotypicFeature HP:0002573 biolink:PhenotypicFeature HP:0002611 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003201 biolink:PhenotypicFeature Orphanet:79457 biolink:Disease Maculopapular cutaneous mastocytosis HP:0100845 biolink:PhenotypicFeature HP:0011354 biolink:PhenotypicFeature HP:0025081 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0010783 biolink:PhenotypicFeature HP:0012733 biolink:PhenotypicFeature HP:0025507 biolink:PhenotypicFeature HP:0000737 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002018 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0008066 biolink:PhenotypicFeature HP:0011971 biolink:PhenotypicFeature HP:0020172 biolink:PhenotypicFeature HP:0031284 biolink:PhenotypicFeature HP:0031901 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature Orphanet:163681 biolink:Disease CNTNAP2-related developmental and epileptic encephalopathy HP:0000750 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002269 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0012757 biolink:PhenotypicFeature HP:0031936 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0002465 biolink:PhenotypicFeature HP:0007064 biolink:PhenotypicFeature HP:0007334 biolink:PhenotypicFeature HP:0010845 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0011182 biolink:PhenotypicFeature HP:0011198 biolink:PhenotypicFeature HP:0012001 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000494 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000708 biolink:PhenotypicFeature HP:0000717 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000742 biolink:PhenotypicFeature HP:0000744 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000817 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0002061 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002342 biolink:PhenotypicFeature HP:0004879 biolink:PhenotypicFeature HP:0006855 biolink:PhenotypicFeature HP:0006970 biolink:PhenotypicFeature HP:0010863 biolink:PhenotypicFeature HP:0011193 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012166 biolink:PhenotypicFeature HP:0012171 biolink:PhenotypicFeature HP:0025160 biolink:PhenotypicFeature HP:0100021 biolink:PhenotypicFeature HP:0100258 biolink:PhenotypicFeature Orphanet:158061 biolink:Disease Macrophage activation syndrome HP:0001410 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003073 biolink:PhenotypicFeature HP:0003281 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0011118 biolink:PhenotypicFeature HP:0012156 biolink:PhenotypicFeature HP:0012649 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0030356 biolink:PhenotypicFeature HP:0030782 biolink:PhenotypicFeature HP:0030783 biolink:PhenotypicFeature HP:0031964 biolink:PhenotypicFeature HP:0040089 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002716 biolink:PhenotypicFeature HP:0005681 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0011900 biolink:PhenotypicFeature HP:0031956 biolink:PhenotypicFeature HP:0001298 biolink:PhenotypicFeature HP:0002240 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0012115 biolink:PhenotypicFeature Orphanet:158057 biolink:Disease Acquired hemophagocytic lymphohistiocytosis associated with malignant disease HP:0002910 biolink:PhenotypicFeature HP:0004377 biolink:PhenotypicFeature HP:0011900 biolink:PhenotypicFeature HP:0025435 biolink:PhenotypicFeature HP:0001399 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0002863 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0004808 biolink:PhenotypicFeature HP:0005521 biolink:PhenotypicFeature HP:0006721 biolink:PhenotypicFeature HP:0006775 biolink:PhenotypicFeature HP:0012189 biolink:PhenotypicFeature HP:0012190 biolink:PhenotypicFeature HP:0012191 biolink:PhenotypicFeature HP:0012229 biolink:PhenotypicFeature HP:0020072 biolink:PhenotypicFeature HP:0030080 biolink:PhenotypicFeature HP:0001402 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0003003 biolink:PhenotypicFeature HP:0012125 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature HP:0012156 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001876 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002958 biolink:PhenotypicFeature HP:0003281 biolink:PhenotypicFeature HP:0011227 biolink:PhenotypicFeature HP:0012211 biolink:PhenotypicFeature HP:0030782 biolink:PhenotypicFeature HP:0040218 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001875 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002155 biolink:PhenotypicFeature HP:0002904 biolink:PhenotypicFeature Orphanet:206594 biolink:Disease Subacute inflammatory demyelinating polyneuropathy HP:0000762 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002922 biolink:PhenotypicFeature HP:0003431 biolink:PhenotypicFeature HP:0007377 biolink:PhenotypicFeature HP:0001284 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001974 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002359 biolink:PhenotypicFeature HP:0003447 biolink:PhenotypicFeature HP:0003474 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0003565 biolink:PhenotypicFeature HP:0004302 biolink:PhenotypicFeature HP:0006881 biolink:PhenotypicFeature HP:0007078 biolink:PhenotypicFeature HP:0007141 biolink:PhenotypicFeature HP:0007220 biolink:PhenotypicFeature HP:0007262 biolink:PhenotypicFeature HP:0011096 biolink:PhenotypicFeature HP:0012531 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001430 biolink:PhenotypicFeature HP:0002403 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0002936 biolink:PhenotypicFeature HP:0003237 biolink:PhenotypicFeature HP:0003376 biolink:PhenotypicFeature HP:0003448 biolink:PhenotypicFeature HP:0006376 biolink:PhenotypicFeature HP:0006844 biolink:PhenotypicFeature HP:0007230 biolink:PhenotypicFeature HP:0008800 biolink:PhenotypicFeature HP:0010505 biolink:PhenotypicFeature HP:0012078 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0002086 biolink:PhenotypicFeature HP:0002270 biolink:PhenotypicFeature HP:0006824 biolink:PhenotypicFeature Orphanet:209919 biolink:Disease Idiopathic copper-associated cirrhosis HP:0001394 biolink:PhenotypicFeature HP:0025321 biolink:PhenotypicFeature HP:0001397 biolink:PhenotypicFeature HP:0010839 biolink:PhenotypicFeature HP:0032254 biolink:PhenotypicFeature HP:0010837 biolink:PhenotypicFeature Orphanet:209959 biolink:Disease Phacoanaphylactic uveitis HP:0000572 biolink:PhenotypicFeature HP:0200026 biolink:PhenotypicFeature HP:0500081 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000615 biolink:PhenotypicFeature HP:0000622 biolink:PhenotypicFeature HP:0007773 biolink:PhenotypicFeature HP:0011488 biolink:PhenotypicFeature HP:0012122 biolink:PhenotypicFeature HP:0012123 biolink:PhenotypicFeature HP:0025337 biolink:PhenotypicFeature HP:0030953 biolink:PhenotypicFeature HP:0004327 biolink:PhenotypicFeature HP:0007906 biolink:PhenotypicFeature HP:0007917 biolink:PhenotypicFeature HP:0008030 biolink:PhenotypicFeature HP:0011484 biolink:PhenotypicFeature HP:0011505 biolink:PhenotypicFeature HP:0011531 biolink:PhenotypicFeature HP:0011886 biolink:PhenotypicFeature HP:0012040 biolink:PhenotypicFeature HP:0012121 biolink:PhenotypicFeature HP:0025341 biolink:PhenotypicFeature HP:0025561 biolink:PhenotypicFeature HP:0030485 biolink:PhenotypicFeature HP:0030486 biolink:PhenotypicFeature HP:0031615 biolink:PhenotypicFeature HP:0031618 biolink:PhenotypicFeature HP:0040049 biolink:PhenotypicFeature Orphanet:209964 biolink:Disease Solitary rectal ulcer syndrome HP:0002573 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002254 biolink:PhenotypicFeature HP:0012450 biolink:PhenotypicFeature HP:0500005 biolink:PhenotypicFeature HP:0000002 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0002035 biolink:PhenotypicFeature HP:0002574 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0012390 biolink:PhenotypicFeature HP:0012702 biolink:PhenotypicFeature HP:0025085 biolink:PhenotypicFeature HP:0025086 biolink:PhenotypicFeature HP:0012425 biolink:PhenotypicFeature Orphanet:217059 biolink:Disease Isolated congenital digital clubbing HP:0003549 biolink:PhenotypicFeature HP:0001500 biolink:PhenotypicFeature HP:0001795 biolink:PhenotypicFeature HP:0001805 biolink:PhenotypicFeature HP:0001821 biolink:PhenotypicFeature HP:0001837 biolink:PhenotypicFeature HP:0002164 biolink:PhenotypicFeature HP:0011300 biolink:PhenotypicFeature HP:0011304 biolink:PhenotypicFeature HP:0100759 biolink:PhenotypicFeature HP:0100760 biolink:PhenotypicFeature HP:0008391 biolink:PhenotypicFeature HP:0012203 biolink:PhenotypicFeature HP:0000951 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0002653 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature Orphanet:217253 biolink:Disease NMDA receptor encephalitis HP:0000708 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001289 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0012229 biolink:PhenotypicFeature HP:0032264 biolink:PhenotypicFeature HP:0032266 biolink:PhenotypicFeature HP:0000738 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000746 biolink:PhenotypicFeature HP:0001945 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0011289 biolink:PhenotypicFeature HP:0012226 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0100754 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000713 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0001266 biolink:PhenotypicFeature HP:0001278 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002133 biolink:PhenotypicFeature HP:0002179 biolink:PhenotypicFeature HP:0002197 biolink:PhenotypicFeature HP:0002300 biolink:PhenotypicFeature HP:0002310 biolink:PhenotypicFeature HP:0002371 biolink:PhenotypicFeature HP:0002463 biolink:PhenotypicFeature HP:0003781 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0008763 biolink:PhenotypicFeature HP:0010553 biolink:PhenotypicFeature HP:0012173 biolink:PhenotypicFeature HP:0012333 biolink:PhenotypicFeature HP:0030214 biolink:PhenotypicFeature HP:0031258 biolink:PhenotypicFeature HP:0003006 biolink:PhenotypicFeature HP:0012189 biolink:PhenotypicFeature HP:0100013 biolink:PhenotypicFeature HP:0100521 biolink:PhenotypicFeature HP:0100526 biolink:PhenotypicFeature HP:0100616 biolink:PhenotypicFeature Orphanet:572013 biolink:Disease Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome HP:0001302 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0008936 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0025100 biolink:PhenotypicFeature HP:0030301 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0004305 biolink:PhenotypicFeature HP:0033725 biolink:PhenotypicFeature HP:0000011 biolink:PhenotypicFeature HP:0000324 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000733 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0002827 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0032794 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature Orphanet:2848 biolink:Disease Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome HP:0001225 biolink:PhenotypicFeature HP:0001836 biolink:PhenotypicFeature HP:0002812 biolink:PhenotypicFeature HP:0002938 biolink:PhenotypicFeature HP:0003940 biolink:PhenotypicFeature HP:0005086 biolink:PhenotypicFeature HP:0005195 biolink:PhenotypicFeature HP:0008812 biolink:PhenotypicFeature HP:0100490 biolink:PhenotypicFeature HP:0000939 biolink:PhenotypicFeature HP:0012062 biolink:PhenotypicFeature HP:0100864 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001701 biolink:PhenotypicFeature HP:0002102 biolink:PhenotypicFeature HP:0001541 biolink:PhenotypicFeature HP:0008610 biolink:PhenotypicFeature HP:0100018 biolink:PhenotypicFeature HP:0012649 biolink:PhenotypicFeature Orphanet:206546 biolink:Disease Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers HP:0002938 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0001435 biolink:PhenotypicFeature HP:0001644 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002942 biolink:PhenotypicFeature HP:0002943 biolink:PhenotypicFeature HP:0003324 biolink:PhenotypicFeature HP:0003326 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0003710 biolink:PhenotypicFeature HP:0003731 biolink:PhenotypicFeature HP:0008981 biolink:PhenotypicFeature HP:0030097 biolink:PhenotypicFeature HP:0001635 biolink:PhenotypicFeature HP:0002987 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0003409 biolink:PhenotypicFeature Orphanet:206572 biolink:Disease Overlap myositis HP:0000822 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002960 biolink:PhenotypicFeature HP:0003119 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003493 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0008997 biolink:PhenotypicFeature HP:0011838 biolink:PhenotypicFeature HP:0025131 biolink:PhenotypicFeature HP:0025142 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature HP:0100296 biolink:PhenotypicFeature HP:0000077 biolink:PhenotypicFeature HP:0000819 biolink:PhenotypicFeature HP:0001627 biolink:PhenotypicFeature HP:0001873 biolink:PhenotypicFeature HP:0001882 biolink:PhenotypicFeature HP:0002092 biolink:PhenotypicFeature HP:0002273 biolink:PhenotypicFeature HP:0002355 biolink:PhenotypicFeature HP:0002725 biolink:PhenotypicFeature HP:0002910 biolink:PhenotypicFeature HP:0003549 biolink:PhenotypicFeature HP:0003551 biolink:PhenotypicFeature HP:0004269 biolink:PhenotypicFeature HP:0006530 biolink:PhenotypicFeature HP:0009053 biolink:PhenotypicFeature HP:0009763 biolink:PhenotypicFeature HP:0011121 biolink:PhenotypicFeature HP:0100324 biolink:PhenotypicFeature HP:0001370 biolink:PhenotypicFeature Orphanet:477 biolink:Disease KID syndrome HP:0011496 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000399 biolink:PhenotypicFeature HP:0000491 biolink:PhenotypicFeature HP:0000509 biolink:PhenotypicFeature HP:0000572 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0000653 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001097 biolink:PhenotypicFeature HP:0001581 biolink:PhenotypicFeature HP:0004552 biolink:PhenotypicFeature HP:0005328 biolink:PhenotypicFeature HP:0007431 biolink:PhenotypicFeature HP:0007502 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0008625 biolink:PhenotypicFeature HP:0011859 biolink:PhenotypicFeature HP:0025092 biolink:PhenotypicFeature HP:0032107 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0200020 biolink:PhenotypicFeature HP:0200035 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001369 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001805 biolink:PhenotypicFeature HP:0003765 biolink:PhenotypicFeature HP:0005401 biolink:PhenotypicFeature HP:0005406 biolink:PhenotypicFeature HP:0008038 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011370 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0025084 biolink:PhenotypicFeature HP:0025610 biolink:PhenotypicFeature HP:0030318 biolink:PhenotypicFeature HP:0000230 biolink:PhenotypicFeature HP:0001305 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001999 biolink:PhenotypicFeature HP:0002673 biolink:PhenotypicFeature HP:0002860 biolink:PhenotypicFeature HP:0003065 biolink:PhenotypicFeature HP:0006380 biolink:PhenotypicFeature HP:0008069 biolink:PhenotypicFeature HP:0008138 biolink:PhenotypicFeature HP:0008788 biolink:PhenotypicFeature HP:0009830 biolink:PhenotypicFeature HP:0011220 biolink:PhenotypicFeature HP:0012844 biolink:PhenotypicFeature HP:0030839 biolink:PhenotypicFeature HP:0031250 biolink:PhenotypicFeature HP:0040154 biolink:PhenotypicFeature HP:0100648 biolink:PhenotypicFeature HP:0100806 biolink:PhenotypicFeature HP:0100838 biolink:PhenotypicFeature HP:0200036 biolink:PhenotypicFeature Orphanet:189 biolink:Disease Hidrotic ectodermal dysplasia HP:0000653 biolink:PhenotypicFeature HP:0000972 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0008070 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0000365 biolink:PhenotypicFeature HP:0000953 biolink:PhenotypicFeature HP:0001072 biolink:PhenotypicFeature HP:0001792 biolink:PhenotypicFeature HP:0001798 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0002215 biolink:PhenotypicFeature HP:0002221 biolink:PhenotypicFeature HP:0002223 biolink:PhenotypicFeature HP:0002225 biolink:PhenotypicFeature HP:0002555 biolink:PhenotypicFeature HP:0004528 biolink:PhenotypicFeature HP:0004779 biolink:PhenotypicFeature HP:0005599 biolink:PhenotypicFeature HP:0008383 biolink:PhenotypicFeature HP:0011911 biolink:PhenotypicFeature HP:0031288 biolink:PhenotypicFeature HP:0045059 biolink:PhenotypicFeature HP:0100759 biolink:PhenotypicFeature Orphanet:1010 biolink:Disease Autosomal dominant palmoplantar keratoderma and congenital alopecia HP:0000653 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0002209 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0045075 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0001807 biolink:PhenotypicFeature HP:0004528 biolink:PhenotypicFeature HP:0010491 biolink:PhenotypicFeature HP:0011838 biolink:PhenotypicFeature HP:0012785 biolink:PhenotypicFeature HP:0032152 biolink:PhenotypicFeature HP:0001041 biolink:PhenotypicFeature HP:0001058 biolink:PhenotypicFeature HP:0002223 biolink:PhenotypicFeature HP:0002298 biolink:PhenotypicFeature HP:0002435 biolink:PhenotypicFeature HP:0009886 biolink:PhenotypicFeature HP:0009900 biolink:PhenotypicFeature HP:0031057 biolink:PhenotypicFeature HP:0040189 biolink:PhenotypicFeature HP:0100018 biolink:PhenotypicFeature HP:0000613 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature Orphanet:69087 biolink:Disease Naegeli-Franceschetti-Jadassohn syndrome HP:0007427 biolink:PhenotypicFeature HP:0007455 biolink:PhenotypicFeature HP:0000164 biolink:PhenotypicFeature HP:0000958 biolink:PhenotypicFeature HP:0000966 biolink:PhenotypicFeature HP:0001808 biolink:PhenotypicFeature HP:0002046 biolink:PhenotypicFeature HP:0006482 biolink:PhenotypicFeature HP:0007500 biolink:PhenotypicFeature HP:0008392 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0031282 biolink:PhenotypicFeature HP:0000670 biolink:PhenotypicFeature HP:0000970 biolink:PhenotypicFeature HP:0000972 biolink:PhenotypicFeature HP:0001010 biolink:PhenotypicFeature HP:0001056 biolink:PhenotypicFeature HP:0001220 biolink:PhenotypicFeature HP:0001806 biolink:PhenotypicFeature HP:0001810 biolink:PhenotypicFeature HP:0005586 biolink:PhenotypicFeature HP:0006253 biolink:PhenotypicFeature HP:0006286 biolink:PhenotypicFeature HP:0006297 biolink:PhenotypicFeature HP:0006480 biolink:PhenotypicFeature HP:0007530 biolink:PhenotypicFeature HP:0007599 biolink:PhenotypicFeature HP:0011069 biolink:PhenotypicFeature HP:0012785 biolink:PhenotypicFeature HP:0031045 biolink:PhenotypicFeature Orphanet:79395 biolink:Disease Keratoderma hereditarium mutilans with ichthyosis HP:0000972 biolink:PhenotypicFeature HP:0007503 biolink:PhenotypicFeature HP:0010491 biolink:PhenotypicFeature HP:0000962 biolink:PhenotypicFeature HP:0000982 biolink:PhenotypicFeature HP:0001036 biolink:PhenotypicFeature HP:0007465 biolink:PhenotypicFeature HP:0007479 biolink:PhenotypicFeature HP:0025114 biolink:PhenotypicFeature HP:0025525 biolink:PhenotypicFeature HP:0032541 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0001805 biolink:PhenotypicFeature HP:0008404 biolink:PhenotypicFeature HP:0025092 biolink:PhenotypicFeature HP:0040162 biolink:PhenotypicFeature HP:0000707 biolink:PhenotypicFeature HP:0000407 biolink:PhenotypicFeature Orphanet:206599 biolink:Disease Isolated asymptomatic elevation of creatine phosphokinase HP:0003236 biolink:PhenotypicFeature HP:0000118 biolink:PhenotypicFeature HP:0003198 biolink:PhenotypicFeature HP:0008331 biolink:PhenotypicFeature Orphanet:589618 biolink:Disease Dystonia 28 HP:0007325 biolink:PhenotypicFeature HP:0033049 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0000473 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0031959 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000414 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0000821 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0002425 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0012048 biolink:PhenotypicFeature HP:0031960 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature Orphanet:251380 biolink:Disease Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome HP:0011904 biolink:PhenotypicFeature HP:0045047 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0001744 biolink:PhenotypicFeature HP:0001746 biolink:PhenotypicFeature HP:0001923 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002113 biolink:PhenotypicFeature HP:0002829 biolink:PhenotypicFeature HP:0004840 biolink:PhenotypicFeature HP:0008346 biolink:PhenotypicFeature HP:0032169 biolink:PhenotypicFeature Orphanet:309155 biolink:Disease Sandhoff disease, infantile form HP:0033978 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002376 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002267 biolink:PhenotypicFeature HP:0003429 biolink:PhenotypicFeature HP:0004481 biolink:PhenotypicFeature HP:0007083 biolink:PhenotypicFeature HP:0010729 biolink:PhenotypicFeature HP:0012696 biolink:PhenotypicFeature HP:0032794 biolink:PhenotypicFeature HP:0000280 biolink:PhenotypicFeature HP:0001433 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0010780 biolink:PhenotypicFeature HP:0100814 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature Orphanet:401986 biolink:Disease 1p31p32 microdeletion syndrome HP:0001263 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0007370 biolink:PhenotypicFeature HP:0000079 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0000722 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0002007 biolink:PhenotypicFeature HP:0002144 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0007099 biolink:PhenotypicFeature HP:0030746 biolink:PhenotypicFeature HP:0000965 biolink:PhenotypicFeature HP:0001363 biolink:PhenotypicFeature HP:0007906 biolink:PhenotypicFeature HP:0011834 biolink:PhenotypicFeature Orphanet:309169 biolink:Disease Sandhoff disease, adult form HP:0033978 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002066 biolink:PhenotypicFeature HP:0003390 biolink:PhenotypicFeature HP:0003484 biolink:PhenotypicFeature HP:0008994 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001315 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0003394 biolink:PhenotypicFeature HP:0004373 biolink:PhenotypicFeature HP:0025268 biolink:PhenotypicFeature HP:0100295 biolink:PhenotypicFeature Orphanet:309162 biolink:Disease Sandhoff disease, juvenile form HP:0033978 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002311 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0003701 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0000020 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002071 biolink:PhenotypicFeature HP:0002380 biolink:PhenotypicFeature HP:0002460 biolink:PhenotypicFeature HP:0003121 biolink:PhenotypicFeature HP:0031006 biolink:PhenotypicFeature HP:0100785 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0001761 biolink:PhenotypicFeature HP:0100786 biolink:PhenotypicFeature Orphanet:542310 biolink:Disease Leukoencephalopathy with calcifications and cysts HP:0002352 biolink:PhenotypicFeature HP:0002514 biolink:PhenotypicFeature HP:0010576 biolink:PhenotypicFeature HP:0000712 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0002135 biolink:PhenotypicFeature HP:0002461 biolink:PhenotypicFeature HP:0007229 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0007346 biolink:PhenotypicFeature HP:0100320 biolink:PhenotypicFeature HP:0100543 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001297 biolink:PhenotypicFeature HP:0001337 biolink:PhenotypicFeature HP:0001342 biolink:PhenotypicFeature HP:0002516 biolink:PhenotypicFeature HP:0007291 biolink:PhenotypicFeature HP:0011153 biolink:PhenotypicFeature HP:0000725 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature Orphanet:228346 biolink:Disease CLN3 disease HP:0000529 biolink:PhenotypicFeature HP:0000618 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001268 biolink:PhenotypicFeature HP:0006957 biolink:PhenotypicFeature HP:0000550 biolink:PhenotypicFeature HP:0000646 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0000709 biolink:PhenotypicFeature HP:0000716 biolink:PhenotypicFeature HP:0000718 biolink:PhenotypicFeature HP:0000726 biolink:PhenotypicFeature HP:0000739 biolink:PhenotypicFeature HP:0001007 biolink:PhenotypicFeature HP:0001061 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001662 biolink:PhenotypicFeature HP:0001712 biolink:PhenotypicFeature HP:0001922 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002067 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002354 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002362 biolink:PhenotypicFeature HP:0002367 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature HP:0007058 biolink:PhenotypicFeature HP:0007076 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0010872 biolink:PhenotypicFeature HP:0011504 biolink:PhenotypicFeature HP:0030348 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000580 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001583 biolink:PhenotypicFeature HP:0032794 biolink:PhenotypicFeature Orphanet:467166 biolink:Disease Tubulinopathy-associated dysgyria HP:0000252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001273 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0002363 biolink:PhenotypicFeature HP:0010663 biolink:PhenotypicFeature HP:0012110 biolink:PhenotypicFeature HP:0012502 biolink:PhenotypicFeature HP:0032398 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000657 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0012547 biolink:PhenotypicFeature HP:0031882 biolink:PhenotypicFeature HP:0040327 biolink:PhenotypicFeature HP:0000256 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0002121 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0020214 biolink:PhenotypicFeature Orphanet:171680 biolink:Disease Lissencephaly due to TUBA1A mutation HP:0000252 biolink:PhenotypicFeature HP:0000308 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001274 biolink:PhenotypicFeature HP:0001320 biolink:PhenotypicFeature HP:0001339 biolink:PhenotypicFeature HP:0002069 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002198 biolink:PhenotypicFeature HP:0002365 biolink:PhenotypicFeature HP:0025101 biolink:PhenotypicFeature HP:0034051 biolink:PhenotypicFeature HP:0000609 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001302 biolink:PhenotypicFeature HP:0001338 biolink:PhenotypicFeature HP:0002126 biolink:PhenotypicFeature HP:0006989 biolink:PhenotypicFeature HP:0007359 biolink:PhenotypicFeature HP:0012469 biolink:PhenotypicFeature HP:0012650 biolink:PhenotypicFeature HP:0025517 biolink:PhenotypicFeature HP:0031882 biolink:PhenotypicFeature HP:0002251 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0025102 biolink:PhenotypicFeature Orphanet:2254 biolink:Disease Pontocerebellar hypoplasia type 1 HP:0001252 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001265 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature HP:0002398 biolink:PhenotypicFeature HP:0002878 biolink:PhenotypicFeature HP:0003202 biolink:PhenotypicFeature HP:0007360 biolink:PhenotypicFeature HP:0000253 biolink:PhenotypicFeature HP:0000529 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012110 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001308 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002120 biolink:PhenotypicFeature HP:0002350 biolink:PhenotypicFeature HP:0003477 biolink:PhenotypicFeature HP:0004886 biolink:PhenotypicFeature HP:0033725 biolink:PhenotypicFeature HP:0000565 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature Orphanet:363722 biolink:Disease Alexander disease type II HP:0010873 biolink:PhenotypicFeature HP:0011441 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001618 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature HP:0002518 biolink:PhenotypicFeature HP:0002839 biolink:PhenotypicFeature HP:0003487 biolink:PhenotypicFeature HP:0003690 biolink:PhenotypicFeature HP:0007109 biolink:PhenotypicFeature HP:0010530 biolink:PhenotypicFeature HP:0012332 biolink:PhenotypicFeature HP:0002063 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature Orphanet:363717 biolink:Disease Alexander disease type I HP:0002500 biolink:PhenotypicFeature HP:0007183 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004481 biolink:PhenotypicFeature HP:0007256 biolink:PhenotypicFeature HP:0012696 biolink:PhenotypicFeature HP:0100320 biolink:PhenotypicFeature HP:0000238 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001260 biolink:PhenotypicFeature HP:0001263 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0004326 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0002013 biolink:PhenotypicFeature HP:0010530 biolink:PhenotypicFeature Orphanet:508093 biolink:Disease MEPAN syndrome HP:0001260 biolink:PhenotypicFeature HP:0001332 biolink:PhenotypicFeature HP:0031206 biolink:PhenotypicFeature HP:0001336 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002072 biolink:PhenotypicFeature HP:0002315 biolink:PhenotypicFeature HP:0002530 biolink:PhenotypicFeature HP:0008314 biolink:PhenotypicFeature HP:0008347 biolink:PhenotypicFeature HP:0011923 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012707 biolink:PhenotypicFeature HP:0025312 biolink:PhenotypicFeature HP:0032005 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0002451 biolink:PhenotypicFeature HP:0007663 biolink:PhenotypicFeature HP:0012179 biolink:PhenotypicFeature HP:0100660 biolink:PhenotypicFeature HP:0000649 biolink:PhenotypicFeature HP:0001251 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0001257 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001324 biolink:PhenotypicFeature Orphanet:544469 biolink:Disease PRUNE1-related neurological syndrome HP:0001263 biolink:PhenotypicFeature HP:0001285 biolink:PhenotypicFeature HP:0001344 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0009062 biolink:PhenotypicFeature HP:0010864 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001272 biolink:PhenotypicFeature HP:0001357 biolink:PhenotypicFeature HP:0002059 biolink:PhenotypicFeature HP:0002093 biolink:PhenotypicFeature HP:0002169 biolink:PhenotypicFeature HP:0002353 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0012448 biolink:PhenotypicFeature HP:0032794 biolink:PhenotypicFeature HP:0033725 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000369 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000648 biolink:PhenotypicFeature HP:0001308 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001639 biolink:PhenotypicFeature HP:0001776 biolink:PhenotypicFeature HP:0003236 biolink:PhenotypicFeature HP:0011097 biolink:PhenotypicFeature HP:0100704 biolink:PhenotypicFeature HP:0000488 biolink:PhenotypicFeature HP:0002313 biolink:PhenotypicFeature Orphanet:555877 biolink:Disease FLNA-related X-linked myxomatous valvular dysplasia HP:0001653 biolink:PhenotypicFeature HP:0005180 biolink:PhenotypicFeature HP:0010444 biolink:PhenotypicFeature HP:0001634 biolink:PhenotypicFeature HP:0001659 biolink:PhenotypicFeature HP:0000189 biolink:PhenotypicFeature HP:0001382 biolink:PhenotypicFeature HP:0001647 biolink:PhenotypicFeature HP:0001763 biolink:PhenotypicFeature HP:0031624 biolink:PhenotypicFeature HP:0000179 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000347 biolink:PhenotypicFeature HP:0000767 biolink:PhenotypicFeature HP:0000974 biolink:PhenotypicFeature HP:0001290 biolink:PhenotypicFeature HP:0001488 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0002079 biolink:PhenotypicFeature HP:0002094 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0030718 biolink:PhenotypicFeature HP:0032388 biolink:PhenotypicFeature Orphanet:88630 biolink:Disease Terminal osseous dysplasia-pigmentary defects syndrome HP:0025197 biolink:PhenotypicFeature HP:0025473 biolink:PhenotypicFeature HP:0000191 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0001371 biolink:PhenotypicFeature HP:0001596 biolink:PhenotypicFeature HP:0030084 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000437 biolink:PhenotypicFeature HP:0000612 biolink:PhenotypicFeature HP:0000685 biolink:PhenotypicFeature HP:0001159 biolink:PhenotypicFeature HP:0001655 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0004467 biolink:PhenotypicFeature HP:0009139 biolink:PhenotypicFeature HP:0010306 biolink:PhenotypicFeature HP:0012385 biolink:PhenotypicFeature HP:0045039 biolink:PhenotypicFeature HP:0001653 biolink:PhenotypicFeature HP:0001723 biolink:PhenotypicFeature Orphanet:97362 biolink:Disease Renal hypoplasia, bilateral HP:0000089 biolink:PhenotypicFeature HP:0000076 biolink:PhenotypicFeature HP:0000093 biolink:PhenotypicFeature HP:0000107 biolink:PhenotypicFeature HP:0000822 biolink:PhenotypicFeature HP:0001562 biolink:PhenotypicFeature HP:0002009 biolink:PhenotypicFeature HP:0011968 biolink:PhenotypicFeature HP:0012213 biolink:PhenotypicFeature HP:0012622 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000483 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000639 biolink:PhenotypicFeature HP:0000969 biolink:PhenotypicFeature HP:0001254 biolink:PhenotypicFeature HP:0001508 biolink:PhenotypicFeature HP:0001510 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001903 biolink:PhenotypicFeature HP:0001942 biolink:PhenotypicFeature HP:0002153 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0002902 biolink:PhenotypicFeature HP:0002907 biolink:PhenotypicFeature HP:0003076 biolink:PhenotypicFeature HP:0004322 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0025466 biolink:PhenotypicFeature HP:0100520 biolink:PhenotypicFeature Orphanet:488232 biolink:Disease Split-foot malformation-mesoaxial polydactyly syndrome HP:0100483 biolink:PhenotypicFeature HP:0001839 biolink:PhenotypicFeature HP:0008619 biolink:PhenotypicFeature HP:0001597 biolink:PhenotypicFeature HP:0004692 biolink:PhenotypicFeature HP:0005767 biolink:PhenotypicFeature HP:0010076 biolink:PhenotypicFeature HP:0010112 biolink:PhenotypicFeature HP:0010359 biolink:PhenotypicFeature HP:0010371 biolink:PhenotypicFeature HP:0010383 biolink:PhenotypicFeature HP:0010413 biolink:PhenotypicFeature HP:0010711 biolink:PhenotypicFeature Orphanet:589821 biolink:Disease Congenital-onset Steinert myotonic dystrophy HP:0000256 biolink:PhenotypicFeature HP:0000297 biolink:PhenotypicFeature HP:0010804 biolink:PhenotypicFeature HP:0031843 biolink:PhenotypicFeature HP:0000736 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0001622 biolink:PhenotypicFeature HP:0001883 biolink:PhenotypicFeature HP:0002119 biolink:PhenotypicFeature HP:0002486 biolink:PhenotypicFeature HP:0002643 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0007010 biolink:PhenotypicFeature HP:0011098 biolink:PhenotypicFeature HP:0011705 biolink:PhenotypicFeature HP:0011710 biolink:PhenotypicFeature HP:0000518 biolink:PhenotypicFeature HP:0000729 biolink:PhenotypicFeature HP:0000750 biolink:PhenotypicFeature HP:0000752 biolink:PhenotypicFeature HP:0000805 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0001643 biolink:PhenotypicFeature HP:0001671 biolink:PhenotypicFeature HP:0002014 biolink:PhenotypicFeature HP:0002015 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002027 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0004325 biolink:PhenotypicFeature HP:0040183 biolink:PhenotypicFeature HP:0001513 biolink:PhenotypicFeature Orphanet:589905 biolink:Disease PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome HP:0000400 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0000233 biolink:PhenotypicFeature HP:0000316 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000348 biolink:PhenotypicFeature HP:0000455 biolink:PhenotypicFeature HP:0000463 biolink:PhenotypicFeature HP:0000539 biolink:PhenotypicFeature HP:0000540 biolink:PhenotypicFeature HP:0000664 biolink:PhenotypicFeature HP:0000957 biolink:PhenotypicFeature HP:0001182 biolink:PhenotypicFeature HP:0001252 biolink:PhenotypicFeature HP:0004209 biolink:PhenotypicFeature HP:0004324 biolink:PhenotypicFeature HP:0007018 biolink:PhenotypicFeature HP:0008872 biolink:PhenotypicFeature HP:0012378 biolink:PhenotypicFeature HP:0100710 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000286 biolink:PhenotypicFeature HP:0000403 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0000508 biolink:PhenotypicFeature HP:0000582 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001288 biolink:PhenotypicFeature HP:0001319 biolink:PhenotypicFeature HP:0002019 biolink:PhenotypicFeature HP:0002020 biolink:PhenotypicFeature HP:0002360 biolink:PhenotypicFeature HP:0002378 biolink:PhenotypicFeature HP:0002761 biolink:PhenotypicFeature HP:0002788 biolink:PhenotypicFeature HP:0004691 biolink:PhenotypicFeature HP:0007874 biolink:PhenotypicFeature Orphanet:2874 biolink:Disease Phakomatosis pigmentokeratotica HP:0010817 biolink:PhenotypicFeature HP:0025510 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0000995 biolink:PhenotypicFeature HP:0002671 biolink:PhenotypicFeature HP:0002859 biolink:PhenotypicFeature HP:0004912 biolink:PhenotypicFeature HP:0012758 biolink:PhenotypicFeature HP:0100556 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0000501 biolink:PhenotypicFeature HP:0000589 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature HP:0000975 biolink:PhenotypicFeature HP:0001004 biolink:PhenotypicFeature HP:0001028 biolink:PhenotypicFeature HP:0001250 biolink:PhenotypicFeature HP:0001269 biolink:PhenotypicFeature HP:0001347 biolink:PhenotypicFeature HP:0001528 biolink:PhenotypicFeature HP:0002232 biolink:PhenotypicFeature HP:0002414 biolink:PhenotypicFeature HP:0002666 biolink:PhenotypicFeature HP:0002667 biolink:PhenotypicFeature HP:0011675 biolink:PhenotypicFeature HP:0012056 biolink:PhenotypicFeature HP:0012583 biolink:PhenotypicFeature HP:0030409 biolink:PhenotypicFeature HP:0030880 biolink:PhenotypicFeature HP:0100702 biolink:PhenotypicFeature HP:0100814 biolink:PhenotypicFeature HP:0100963 biolink:PhenotypicFeature Orphanet:91414 biolink:Disease Pilomatrixoma HP:0030434 biolink:PhenotypicFeature HP:0001482 biolink:PhenotypicFeature HP:0012288 biolink:PhenotypicFeature HP:0010766 biolink:PhenotypicFeature HP:0000989 biolink:PhenotypicFeature HP:0033559 biolink:PhenotypicFeature Orphanet:319332 biolink:Disease Autosomal recessive myogenic arthrogryposis multiplex congenita HP:0001265 biolink:PhenotypicFeature HP:0001270 biolink:PhenotypicFeature HP:0001558 biolink:PhenotypicFeature HP:0001776 biolink:PhenotypicFeature HP:0002540 biolink:PhenotypicFeature HP:0002804 biolink:PhenotypicFeature HP:0008935 biolink:PhenotypicFeature HP:0030200 biolink:PhenotypicFeature HP:0430025 biolink:PhenotypicFeature HP:0000028 biolink:PhenotypicFeature HP:0002650 biolink:PhenotypicFeature HP:0000276 biolink:PhenotypicFeature HP:0000343 biolink:PhenotypicFeature HP:0000400 biolink:PhenotypicFeature HP:0000486 biolink:PhenotypicFeature HP:0001181 biolink:PhenotypicFeature HP:0001188 biolink:PhenotypicFeature HP:0001249 biolink:PhenotypicFeature HP:0001518 biolink:PhenotypicFeature HP:0003391 biolink:PhenotypicFeature HP:0005191 biolink:PhenotypicFeature HP:0005280 biolink:PhenotypicFeature HP:0005469 biolink:PhenotypicFeature HP:0008897 biolink:PhenotypicFeature HP:0011471 biolink:PhenotypicFeature HP:0012785 biolink:PhenotypicFeature HP:0031729 biolink:PhenotypicFeature HP:0000252 biolink:PhenotypicFeature HP:0001561 biolink:PhenotypicFeature HP:0040081 biolink:PhenotypicFeature Orphanet:79414 biolink:Disease Woolly hair nevus HP:0002212 biolink:PhenotypicFeature HP:0002213 biolink:PhenotypicFeature HP:0011365 biolink:PhenotypicFeature HP:0040149 biolink:PhenotypicFeature HP:0007534 biolink:PhenotypicFeature HP:0001100 biolink:PhenotypicFeature HP:0001156 biolink:PhenotypicFeature HP:0006304 biolink:PhenotypicFeature HP:0009917 biolink:PhenotypicFeature HP:0011387 biolink:PhenotypicFeature HP:0000826 biolink:PhenotypicFeature