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:0001836 | HP:0001836 | Camptodactyly of toe | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0001836 | HP:0001836 | Camptodactyly of toe | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | . | | | 68 | | |
HP:0001836 | HP:0001836 | Camptodactyly of toe | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:158687 | Lethal acantholytic erosive disorder | HP:0040283 - Occasional | | | 747 | | |
HP:0001836 | HP:0001836 | Camptodactyly of toe | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:610474 | Camptodactyly, tall stature, and hearing loss syndrome | . | | | 145 | | |
HP:0001836 | HP:0001836 | Camptodactyly of toe | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300280 | Uruguay faciocardiomusculoskeletal syndrome | . | | | 68 | | |
HP:0001836 | HP:0001836 | Camptodactyly of toe | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300244 | Terminal osseous dysplasia | . | | | 493 | | |
HP:0001836 | HP:0001836 | Camptodactyly of toe | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0001836 | HP:0001836 | Camptodactyly of toe | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0001836 | HP:0001836 | Camptodactyly of toe | 0 | JUP CL E G H | 3728 | 6207 | ORPHA:158687 | Lethal acantholytic erosive disorder | HP:0040283 - Occasional | | | 222 | | |
HP:0001836 | HP:0001836 | Camptodactyly of toe | 0 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | . | | | 64 | | |
HP:0001836 | HP:0001836 | Camptodactyly of toe | 0 | MYL11 CL E G H | 29895 | 29824 | OMIM:619110 | ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C | | | | | | |
HP:0001836 | HP:0001836 | Camptodactyly of toe | 0 | PHF6 CL E G H | 84295 | 18145 | ORPHA:127 | Borjeson-Forssman-Lehmann syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0001836 | HP:0001836 | Camptodactyly of toe | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:114300 | Arthrogryposis, distal, type 3 | . | | | 77 | | |
HP:0001836 | HP:0001836 | Camptodactyly of toe | 0 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | | | | 10 | | |
HP:0001836 | HP:0001836 | Camptodactyly of toe | 0 | PRG4 CL E G H | 10216 | 9364 | ORPHA:2848 | Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome | | | | 6 | | |
HP:0001836 | HP:0001836 | Camptodactyly of toe | 0 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | . | | | 11 | | |
HP:0001836 | HP:0100351 | Contractures of the proximal interphalangeal joint of the 5th toe | 1 | CL E G H | | | | | | | | | | |
HP:0001836 | HP:0100348 | Contracture of the proximal interphalangeal joint of the 2nd toe | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0001836 | HP:0100349 | Contracture of the proximal interphalangeal joint of the 3rd toe | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0001836 | HP:0100348 | Contracture of the proximal interphalangeal joint of the 2nd toe | 1 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0001836 | HP:0100350 | Contracture of the proximal interphalangeal joint of the 4th toe | 1 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | HP:0040284 - Very rare | | | 10 | | |