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:0010557 | HP:0010557 | Overlapping fingers | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040283 - Occasional | | | 68 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | . | | | 16 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:618291 | Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | . | | | 46 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | . | | | | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | CHST11 CL E G H | 50515 | 17422 | OMIM:618167 | Osteochondrodysplasia, brachydactyly, and overlapping malformed digits | . | | | 1 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | CNTN1 CL E G H | 1272 | 2171 | OMIM:612540 | Myopathy, congenital, compton-north | . | | | 40 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | . | | | 1 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | DOK7 CL E G H | 285489 | 26594 | OMIM:618389 | FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3 | | | | 91 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | EBP CL E G H | 10682 | 3133 | OMIM:300960 | Mend syndrome | . | | | 51 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | EVC CL E G H | 2121 | 3497 | ORPHA:952 | Acrofacial dysostosis, Weyers type | HP:0040282 - Frequent | | | 209 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | EVC2 CL E G H | 132884 | 19747 | ORPHA:952 | Acrofacial dysostosis, Weyers type | HP:0040282 - Frequent | | | 137 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | . | | | 493 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | MECOM CL E G H | 2122 | 3498 | OMIM:616738 | RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2 | | | | 4 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | MOGS CL E G H | 7841 | 24862 | OMIM:606056 | Congenital disorder of glycosylation, type IIB | . | | | 37 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | HP:0040283 - Occasional | | | 37 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | MYBPC1 CL E G H | 4604 | 7549 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040281 - Very frequent | | | 66 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:618436 | Arthrogryposis, distal, type 2B3 | . | | | 166 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040281 - Very frequent | | | 166 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040281 - Very frequent | | | 48 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | . | | | 9 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:616531 | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | . | | | 11 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | | | | 5 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | PRKDC CL E G H | 5591 | 9413 | OMIM:615966 | Immunodeficiency 26 with or without neurologic abnormalities | HP:0040283 - Occasional | | | 42 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | PTF1A CL E G H | 256297 | 23734 | OMIM:609069 | Pancreatic and cerebellar agenesis | HP:0040283 - Occasional | | | 22 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | . | | | 8 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040283 - Occasional | | | 143 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | . | | | 1 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | TNNI2 CL E G H | 7136 | 11946 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040281 - Very frequent | | | 37 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | TNNI2 CL E G H | 7136 | 11946 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | TNNT3 CL E G H | 7140 | 11950 | OMIM:618435 | Arthrogryposis, distal, type 2B2 | . | | | 43 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | TNNT3 CL E G H | 7140 | 11950 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040281 - Very frequent | | | 43 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | TNNT3 CL E G H | 7140 | 11950 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:108120 | Arthrogryposis, distal, type 1A | . | | | 54 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040281 - Very frequent | | | 54 | | |
HP:0010557 | HP:0010557 | Overlapping fingers | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 54 | | |