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:0001805 | HP:0001805 | Onychogryposis | 0 | ADAM17 CL E G H | 6868 | 195 | OMIM:614328 | INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1 | | | | 2 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | ADAM17 CL E G H | 6868 | 195 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | HP:0040282 - Frequent | | | 2 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158676 | Localized dystrophic epidermolysis bullosa, nails only | HP:0040281 - Very frequent | | | 263 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | CTSC CL E G H | 1075 | 2528 | OMIM:245010 | Haim-Munk syndrome | . | | | 50 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 14 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 5 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | EGFR CL E G H | 1956 | 3236 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | HP:0040282 - Frequent | | | 257 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | FZD6 CL E G H | 8323 | 4044 | OMIM:161050 | Nail disorder, nonsyndromic congenital, 1 | HP:0040283 - Occasional | | | 3 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:217059 | Isolated congenital digital clubbing | | | | 55 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | INSR CL E G H | 3643 | 6091 | OMIM:262190 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | | | | 229 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | | | | 229 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | ITGB4 CL E G H | 3691 | 6158 | OMIM:619816 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A | | | | 124 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | KLHL24 CL E G H | 54800 | 25947 | OMIM:617294 | Epidermolysis bullosa simplex, generalized, with scarring and hair loss | | | | 5 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040283 - Occasional | | | 110 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | | | | 27 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | KRT16 CL E G H | 3868 | 6423 | OMIM:167200 | Pachyonychia congenita, type 1 | . | | | 27 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | | | | 23 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040283 - Occasional | | | 173 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:131960 | Epidermolysis bullosa simplex with mottled pigmentation | . | | | 173 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | | | | 41 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | KRT6A CL E G H | 3853 | 6443 | OMIM:615726 | Pachyonychia congenita 3 | | | | 41 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | | | | 4 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | | | | 645 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | LORICRIN CL E G H | 4014 | 6663 | ORPHA:79395 | Keratoderma hereditarium mutilans with ichthyosis | HP:0040283 - Occasional | | | | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:131950 | Epidermolysis bullosa simplex, Ogna type | | | | 759 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | . | | | 140 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | | | | 95 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 98 | | |
HP:0001805 | HP:0001805 | Onychogryposis | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:603671 | Acromelic frontonasal dysostosis | . | | | 5 | | |
HP:0001805 | HP:0008401 | Onychogryposis of toenails | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158676 | Localized dystrophic epidermolysis bullosa, nails only | HP:0040282 - Frequent | | | 263 | | |
HP:0001805 | HP:0040036 | Onychogryposis of fingernail | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158676 | Localized dystrophic epidermolysis bullosa, nails only | HP:0040282 - Frequent | | | 263 | | |
HP:0001805 | HP:0040036 | Onychogryposis of fingernail | 1 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0001805 | HP:0040036 | Onychogryposis of fingernail | 1 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001805 | HP:0040036 | Onychogryposis of fingernail | 1 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | | | |
HP:0001805 | HP:0012542 | Onychauxis | 1 | INSR CL E G H | 3643 | 6091 | OMIM:262190 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | . | | | 229 | | |
HP:0001805 | HP:0012542 | Onychauxis | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040282 - Frequent | | | 229 | | |
HP:0001805 | HP:0008401 | Onychogryposis of toenails | 1 | KLHL24 CL E G H | 54800 | 25947 | OMIM:617294 | Epidermolysis bullosa simplex, generalized, with scarring and hair loss | | | | 5 | | |
HP:0001805 | HP:0008401 | Onychogryposis of toenails | 1 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | HP:0040281 - Very frequent | | | 27 | | |
HP:0001805 | HP:0040036 | Onychogryposis of fingernail | 1 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | HP:0040282 - Frequent | | | 27 | | |
HP:0001805 | HP:0040036 | Onychogryposis of fingernail | 1 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | HP:0040282 - Frequent | | | 23 | | |
HP:0001805 | HP:0008401 | Onychogryposis of toenails | 1 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | HP:0040281 - Very frequent | | | 23 | | |
HP:0001805 | HP:0008401 | Onychogryposis of toenails | 1 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | HP:0040281 - Very frequent | | | 41 | | |
HP:0001805 | HP:0040036 | Onychogryposis of fingernail | 1 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | HP:0040282 - Frequent | | | 41 | | |
HP:0001805 | HP:0008401 | Onychogryposis of toenails | 1 | KRT6A CL E G H | 3853 | 6443 | OMIM:615726 | Pachyonychia congenita 3 | . | | | 41 | | |
HP:0001805 | HP:0040036 | Onychogryposis of fingernail | 1 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | HP:0040282 - Frequent | | | 4 | | |
HP:0001805 | HP:0008401 | Onychogryposis of toenails | 1 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | HP:0040281 - Very frequent | | | 4 | | |
HP:0001805 | HP:0008401 | Onychogryposis of toenails | 1 | PLEC CL E G H | 5339 | 9069 | OMIM:131950 | Epidermolysis bullosa simplex, Ogna type | . | | | 759 | | |
HP:0001805 | HP:0040036 | Onychogryposis of fingernail | 1 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 98 | | |