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:0009183 | HP:0009183 | Joint contracture of the 5th finger | 0 | ARPC4 CL E G H | 10093 | 707 | OMIM:620141 | | | | | | | |
HP:0009183 | HP:0009183 | Joint contracture of the 5th finger | 0 | AUTS2 CL E G H | 26053 | 14262 | ORPHA:352490 | Autism spectrum disorder due to AUTS2 deficiency | HP:0040283 - Occasional | | | 61 | | |
HP:0009183 | HP:0009183 | Joint contracture of the 5th finger | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040283 - Occasional | | | 20 | | |
HP:0009183 | HP:0009183 | Joint contracture of the 5th finger | 0 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0009183 | HP:0009183 | Joint contracture of the 5th finger | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | . | | | 68 | | |
HP:0009183 | HP:0009183 | Joint contracture of the 5th finger | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | | | | 25 | | |
HP:0009183 | HP:0009183 | Joint contracture of the 5th finger | 0 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | | | | 2 | | |
HP:0009183 | HP:0009183 | Joint contracture of the 5th finger | 0 | KMT2B CL E G H | 9757 | 15840 | OMIM:619934 | | | | | 11 | | |
HP:0009183 | HP:0009183 | Joint contracture of the 5th finger | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | | | | 144 | | |
HP:0009183 | HP:0009183 | Joint contracture of the 5th finger | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | | | | 36 | | |
HP:0009183 | HP:0009183 | Joint contracture of the 5th finger | 0 | PITX1 CL E G H | 5307 | 9004 | OMIM:186550 | Synostosis, carpal, with dysplastic elbow joints and brachydactyly | . | | | 8 | | |
HP:0009183 | HP:0009183 | Joint contracture of the 5th finger | 0 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0009183 | HP:0009183 | Joint contracture of the 5th finger | 0 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0009183 | HP:0009183 | Joint contracture of the 5th finger | 0 | TMEM218 CL E G H | 219854 | 27344 | OMIM:619562 | JOUBERT SYNDROME 39; JBTS39 | | | | | | |
HP:0009183 | HP:0009183 | Joint contracture of the 5th finger | 0 | ZDHHC9 CL E G H | 51114 | 18475 | OMIM:300799 | Mental retardation, x-linked syndromic, Raymond type | . | | | 10 | | |
HP:0009183 | HP:0009184 | Contracture of the distal interphalangeal joint of the 5th finger | 1 | CL E G H | | | | | | | | | | |
HP:0009183 | HP:0009186 | Contracture of the metacarpophalangeal joint of the 5th finger | 1 | CL E G H | | | | | | | | | | |
HP:0009183 | HP:0009185 | Contracture of the proximal interphalangeal joint of the 5th finger | 1 | ARPC4 CL E G H | 10093 | 707 | OMIM:620141 | | | | | | | |
HP:0009183 | HP:0009185 | Contracture of the proximal interphalangeal joint of the 5th finger | 1 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | . | | | 25 | | |
HP:0009183 | HP:0009185 | Contracture of the proximal interphalangeal joint of the 5th finger | 1 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | | | | 2 | | |
HP:0009183 | HP:0009185 | Contracture of the proximal interphalangeal joint of the 5th finger | 1 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | . | | | 144 | | |
HP:0009183 | HP:0009185 | Contracture of the proximal interphalangeal joint of the 5th finger | 1 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |