Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 135 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | ADGRG6 CL E G H | 57211 | 13841 | OMIM:616503 | Lethal congenital contracture syndrome 9 | . | | | 5 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 89 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616603 | Cutis laxa, autosomal dominant 3 | . | | | 89 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | . | | | 89 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | ALG13 CL E G H | 79868 | 30881 | ORPHA:324422 | ALG13-CDG | HP:0040283 - Occasional | | | 96 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | . | | | 37 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | ANKLE2 CL E G H | 23141 | 29101 | OMIM:616681 | Microcephaly 16, primary, autosomal recessive | . | | | 3 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | AP4M1 CL E G H | 9179 | 574 | OMIM:612936 | Spastic paraplegia 50, autosomal recessive | . | | | 41 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | ATAD1 CL E G H | 84896 | 25903 | OMIM:618011 | Hyperekplexia 4 | . | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 192 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 38 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | . | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | CHST11 CL E G H | 50515 | 17422 | OMIM:618167 | Osteochondrodysplasia, brachydactyly, and overlapping malformed digits | . | | | 1 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | . | | | 27 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 65 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 442 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 478 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 702 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040283 - Occasional | | | 291 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | . | | | 24 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | CRPPA CL E G H | 729920 | 37276 | OMIM:614643 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | . | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | DPH2 CL E G H | 1802 | 3004 | OMIM:620062 | | | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | DSE CL E G H | 29940 | 21144 | OMIM:615539 | Ehlers-Danlos syndrome, musculocontractural type, 2 | . | | | 13 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | ECE1 CL E G H | 1889 | 3146 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 13 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | ECEL1 CL E G H | 9427 | 3147 | OMIM:615065 | Arthrogryposis, distal, type 5D | . | | | 37 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | EDN3 CL E G H | 1908 | 3178 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 67 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | EDNRB CL E G H | 1910 | 3180 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 55 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 172 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040284 - Very rare | | | 250 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | EPB41L1 CL E G H | 2036 | 3378 | OMIM:614257 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11 | | | | 29 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | ERBB2 CL E G H | 2064 | 3430 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 77 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | ERBB3 CL E G H | 2065 | 3431 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 12 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | ERCC1 CL E G H | 2067 | 3433 | OMIM:610758 | Cerebrooculofacioskeletal syndrome 4 | . | | | 20 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | . | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 63 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:284979 | Neonatal Marfan syndrome | HP:0040281 - Very frequent | | | 1361 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | FBN2 CL E G H | 2201 | 3604 | OMIM:121050 | Contractural arachnodactyly, congenital | | | | 655 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | GDNF CL E G H | 2668 | 4232 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 59 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | GPKOW CL E G H | 27238 | 30677 | ORPHA:2570 | Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome | HP:0040283 - Occasional | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | KATNB1 CL E G H | 10300 | 6217 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 10 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | . | | | 13 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | KLHL40 CL E G H | 131377 | 30372 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 28 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | L1CAM CL E G H | 3897 | 6470 | OMIM:307000 | Hydrocephalus due to congenital stenosis of aqueduct of sylvius | . | | | 134 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | L1CAM CL E G H | 3897 | 6470 | ORPHA:2182 | Hydrocephalus with stenosis of the aqueduct of Sylvius | HP:0040282 - Frequent | | | 134 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | L1CAM CL E G H | 3897 | 6470 | OMIM:303350 | MASA syndrome | . | | | 134 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | L1CAM CL E G H | 3897 | 6470 | ORPHA:306617 | X-linked complicated spastic paraplegia type 1 | HP:0040283 - Occasional | | | 134 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | LAGE3 CL E G H | 8270 | 26058 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | . | | | 144 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | MSL3 CL E G H | 10943 | 7370 | OMIM:301032 | BASILICATA-AKHTAR SYNDROME; MRXSBA | | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | MYBPC1 CL E G H | 4604 | 7549 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040281 - Very frequent | | | 66 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | . | | | 166 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:618436 | Arthrogryposis, distal, type 2B3 | | | | 166 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040281 - Very frequent | | | 166 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | MYL11 CL E G H | 29895 | 29824 | OMIM:619110 | ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C | | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | . | | | 48 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040281 - Very frequent | | | 48 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 96 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | NEB CL E G H | 4703 | 7720 | OMIM:619334 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6 | | | | 745 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | . | | | 9 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | NRTN CL E G H | 4902 | 8007 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 4 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | NUP133 CL E G H | 55746 | 18016 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | OSGEP CL E G H | 55644 | 18028 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 37 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:601815 | Phosphoglycerate dehydrogenase deficiency | . | | | 37 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | RBM8A CL E G H | 9939 | 9905 | ORPHA:3320 | Thrombocytopenia-absent radius syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | RELN CL E G H | 5649 | 9957 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 334 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | RET CL E G H | 5979 | 9967 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 572 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | RFT1 CL E G H | 91869 | 30220 | OMIM:612015 | Congenital disorder of glycosylation, type IN | . | | | 92 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | SEMA3C CL E G H | 10512 | 10725 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 1 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | SEMA3D CL E G H | 223117 | 10726 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 2 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | SLC9A6 CL E G H | 10479 | 11079 | ORPHA:85278 | Christianson syndrome | HP:0040282 - Frequent | | | 93 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | . | | | 93 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 22 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | SREBF1 CL E G H | 6720 | 11289 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 1 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040282 - Frequent | | | 14 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:618484 | Arthrogryposis multiplex congenita, Myogenic type | . | | | 1129 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | | | | 2 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | TNNI2 CL E G H | 7136 | 11946 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040281 - Very frequent | | | 37 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | TNNI2 CL E G H | 7136 | 11946 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | TNNT3 CL E G H | 7140 | 11950 | OMIM:618435 | Arthrogryposis, distal, type 2B2 | . | | | 43 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | TNNT3 CL E G H | 7140 | 11950 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040281 - Very frequent | | | 43 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | TNNT3 CL E G H | 7140 | 11950 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | TP53RK CL E G H | 112858 | 16197 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:108120 | Arthrogryposis, distal, type 1A | . | | | 54 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040281 - Very frequent | | | 54 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040281 - Very frequent | | | 54 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | TPRKB CL E G H | 51002 | 24259 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | WDR4 CL E G H | 10785 | 12756 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | WDR73 CL E G H | 84942 | 25928 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040283 - Occasional | | | 362 | | |
HP:0001181 | HP:0001181 | Adducted thumb | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040283 - Occasional | | | 362 | | |