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:0001799 | HP:0001799 | Short nail | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | . | | | 140 | | |
HP:0001799 | HP:0001799 | Short nail | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | . | | | 38 | | |
HP:0001799 | HP:0001799 | Short nail | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | HP:0040283 - Occasional | | | 144 | | |
HP:0001799 | HP:0001799 | Short nail | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | . | | | 233 | | |
HP:0001799 | HP:0001799 | Short nail | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:503 | Larsen syndrome | HP:0040281 - Very frequent | | | 233 | | |
HP:0001799 | HP:0001799 | Short nail | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0001799 | HP:0001799 | Short nail | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0001799 | HP:0001799 | Short nail | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0001799 | HP:0001799 | Short nail | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:614099 | Cranioectodermal dysplasia 3 | . | | | 11 | | |
HP:0001799 | HP:0001799 | Short nail | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | HP:0040283 - Occasional | | | 645 | | |
HP:0001799 | HP:0001799 | Short nail | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | . | | | 138 | | |
HP:0001799 | HP:0001799 | Short nail | 0 | NPR2 CL E G H | 4882 | 7944 | OMIM:602875 | Acromesomelic dysplasia, Maroteaux type | . | | | 53 | | |
HP:0001799 | HP:0001799 | Short nail | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0001799 | HP:0001799 | Short nail | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | | | | 71 | | |
HP:0001799 | HP:0001799 | Short nail | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | HP:0040283 - Occasional | | | 83 | | |
HP:0001799 | HP:0001799 | Short nail | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | . | | | 83 | | |