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:0003037 | HP:0003037 | Enlarged joints | 0 | CCN6 CL E G H | 8838 | 12771 | OMIM:208230 | Arthropathy, progressive pseudorheumatoid, of childhood | | | | | | |
HP:0003037 | HP:0003037 | Enlarged joints | 0 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | | | | | | |
HP:0003037 | HP:0003037 | Enlarged joints | 0 | CHST3 CL E G H | 9469 | 1971 | ORPHA:263463 | CHST3-related skeletal dysplasia | HP:0040281 - Very frequent | | | 165 | | |
HP:0003037 | HP:0003037 | Enlarged joints | 0 | COL11A2 CL E G H | 1302 | 2187 | OMIM:215150 | Otospondylomegaepiphyseal dysplasia | . | | | 222 | | |
HP:0003037 | HP:0003037 | Enlarged joints | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:1427 | Otospondylomegaepiphyseal dysplasia | HP:0040283 - Occasional | | | 222 | | |
HP:0003037 | HP:0003037 | Enlarged joints | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85198 | Dysspondyloenchondromatosis | HP:0040281 - Very frequent | | | 284 | | |
HP:0003037 | HP:0003037 | Enlarged joints | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | HP:0040281 - Very frequent | | | 284 | | |
HP:0003037 | HP:0003037 | Enlarged joints | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | . | | | 284 | | |
HP:0003037 | HP:0003037 | Enlarged joints | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:604864 | Osteoarthritis with mild chondrodysplasia | | | | 284 | | |
HP:0003037 | HP:0003037 | Enlarged joints | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186300 | Syndactyly, type V | | | | 25 | | |
HP:0003037 | HP:0003037 | Enlarged joints | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0003037 | HP:0003037 | Enlarged joints | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:607131 | Al-Gazali-Bakalinova syndrome | | | | 167 | | |
HP:0003037 | HP:0003037 | Enlarged joints | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:166024 | Multiple epiphyseal dysplasia, Al-Gazali type | HP:0040281 - Very frequent | | | 167 | | |
HP:0003037 | HP:0003037 | Enlarged joints | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | . | | | 144 | | |
HP:0003037 | HP:0003037 | Enlarged joints | 0 | MATN3 CL E G H | 4148 | 6909 | OMIM:140600 | Osteoarthritis of distal interphalangeal joints | | | | 32 | | |
HP:0003037 | HP:0003037 | Enlarged joints | 0 | MATN3 CL E G H | 4148 | 6909 | ORPHA:156728 | Spondyloepimetaphyseal dysplasia, matrilin-3 type | HP:0040283 - Occasional | | | 32 | | |
HP:0003037 | HP:0003037 | Enlarged joints | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0003037 | HP:0003037 | Enlarged joints | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0003037 | HP:0003037 | Enlarged joints | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | . | | | 214 | | |
HP:0003037 | HP:0003037 | Enlarged joints | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184252 | Spondylometaphyseal dysplasia, Kozlowski type | HP:0040283 - Occasional | | | 214 | | |
HP:0003037 | HP:0003973 | Wide radioulnar joints | 1 | CL E G H | | | | | | | | | | |
HP:0003037 | HP:0006247 | Enlarged interphalangeal joints | 1 | CCN6 CL E G H | 8838 | 12771 | OMIM:208230 | Arthropathy, progressive pseudorheumatoid, of childhood | . | | | | | |
HP:0003037 | HP:0006247 | Enlarged interphalangeal joints | 1 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | HP:0040283 - Occasional | | | | | |
HP:0003037 | HP:0006247 | Enlarged interphalangeal joints | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:604864 | Osteoarthritis with mild chondrodysplasia | | | | 284 | | |
HP:0003037 | HP:0006247 | Enlarged interphalangeal joints | 1 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186300 | Syndactyly, type V | | | | 25 | | |
HP:0003037 | HP:0006247 | Enlarged interphalangeal joints | 1 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0003037 | HP:0006247 | Enlarged interphalangeal joints | 1 | MATN3 CL E G H | 4148 | 6909 | OMIM:140600 | Osteoarthritis of distal interphalangeal joints | | | | 32 | | |
HP:0003037 | HP:0012314 | Bouchard's node | 2 | CL E G H | | | | | | | | | | |
HP:0003037 | HP:0012313 | Heberden's node | 2 | COL2A1 CL E G H | 1280 | 2200 | OMIM:604864 | Osteoarthritis with mild chondrodysplasia | . | | | 284 | | |
HP:0003037 | HP:0006185 | Enlarged proximal interphalangeal joints | 2 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186300 | Syndactyly, type V | . | | | 25 | | |
HP:0003037 | HP:0006185 | Enlarged proximal interphalangeal joints | 2 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0003037 | HP:0012313 | Heberden's node | 2 | MATN3 CL E G H | 4148 | 6909 | OMIM:140600 | Osteoarthritis of distal interphalangeal joints | . | | | 32 | | |