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:0008404 | HP:0008404 | Nail dystrophy | 0 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040284 - Very rare | | | 7 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ABCA1 CL E G H | 19 | 29 | OMIM:205400 | Tangier disease | . | | | 191 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ABCA1 CL E G H | 19 | 29 | ORPHA:31150 | Tangier disease | HP:0040282 - Frequent | | | 191 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ACD CL E G H | 65057 | 25070 | OMIM:616553 | Dyskeratosis congenita, autosomal dominant 6 | . | | | 11 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ACD CL E G H | 65057 | 25070 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ANAPC1 CL E G H | 64682 | 19988 | OMIM:618625 | ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1 | | | | 2 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | AP1S3 CL E G H | 130340 | 18971 | OMIM:616106 | Psoriasis 15, pustular, susceptibility to | . | | | 2 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ATL1 CL E G H | 51062 | 11231 | OMIM:613708 | Neuropathy, hereditary sensory, type ID | . | | | 71 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ATP2A2 CL E G H | 488 | 812 | ORPHA:79151 | Acrokeratosis verruciformis of Hopf | HP:0040281 - Very frequent | | | 86 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:124480 | Deafness, congenital, and onychodystrophy, autosomal dominant | . | | | 5 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ATR CL E G H | 545 | 882 | OMIM:614564 | Cutaneous telangiectasia and cancer syndrome, familial | | | | 168 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | BANF1 CL E G H | 8815 | 17397 | OMIM:614008 | Nestor-Guillermo progeria syndrome | | | | 22 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 276 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | CD151 CL E G H | 977 | 1630 | OMIM:609057 | NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS | | | | 1 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | CD28 CL E G H | 940 | 1653 | ORPHA:3162 | Sézary syndrome | HP:0040282 - Frequent | | | | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | CDSN CL E G H | 1041 | 1802 | OMIM:270300 | Peeling skin syndrome 1 | | | | 7 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040284 - Very rare | | | 2 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | COL17A1 CL E G H | 1308 | 2194 | OMIM:619787 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4 | | | | 129 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 129 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79406 | Late-onset junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 129 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 129 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:231568 | Autosomal dominant generalized dystrophic epidermolysis bullosa | HP:0040282 - Frequent | | | 263 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040282 - Frequent | | | 263 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89843 | Dystrophic epidermolysis bullosa pruriginosa | HP:0040282 - Frequent | | | 263 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:131750 | Epidermolysis bullosa dystrophica, autosomal dominant | . | | | 263 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | . | | | 263 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:131850 | Epidermolysis bullosa dystrophica, pretibial | . | | | 263 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:604129 | Epidermolysis bullosa pruriginosa | . | | | 263 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:132000 | Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails | . | | | 263 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158673 | Localized dystrophic epidermolysis bullosa, acral form | | | | 263 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158676 | Localized dystrophic epidermolysis bullosa, nails only | HP:0040281 - Very frequent | | | 263 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79410 | Localized dystrophic epidermolysis bullosa, pretibial form | HP:0040282 - Frequent | | | 263 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:607523 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8 | | | | 263 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79409 | Recessive dystrophic epidermolysis bullosa inversa | HP:0040282 - Frequent | | | 263 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79411 | Self-improving dystrophic epidermolysis bullosa | HP:0040282 - Frequent | | | 263 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:131705 | Transient bullous dermolysis of the newborn | . | | | 263 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | CSTA CL E G H | 1475 | 2481 | OMIM:607936 | Peeling skin syndrome 4 | HP:0040283 - Occasional | | | 4 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 160 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:3162 | Sézary syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 65 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | . | | | 65 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | . | | | 5 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | DSG1 CL E G H | 1828 | 3048 | OMIM:148700 | Keratosis palmoplantaris striata I | | | | 16 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | DSP CL E G H | 1832 | 3052 | OMIM:615821 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | HP:0040283 - Occasional | | | 747 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | DSP CL E G H | 1832 | 3052 | OMIM:607655 | Skin fragility-woolly hair syndrome | . | | | 747 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | DST CL E G H | 667 | 1090 | OMIM:615425 | Epidermolysis bullosa simplex, autosomal recessive 2 | HP:0040283 - Occasional | | | 108 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | . | | | 106 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | EVC CL E G H | 2121 | 3497 | ORPHA:952 | Acrofacial dysostosis, Weyers type | HP:0040281 - Very frequent | | | 209 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | EVC2 CL E G H | 132884 | 19747 | ORPHA:952 | Acrofacial dysostosis, Weyers type | HP:0040281 - Very frequent | | | 137 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | . | | | 493 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | FOXN1 CL E G H | 8456 | 12765 | OMIM:601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | . | | | 54 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | FOXN1 CL E G H | 8456 | 12765 | OMIM:618806 | T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND | | | | 54 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | | | | 68 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | . | | | 199 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | . | | | 56 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | | | | 56 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | GRHL2 CL E G H | 79977 | 2799 | OMIM:616029 | Ectodermal dysplasia/short stature syndrome | . | | | 33 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | HP:0040284 - Very rare | | | 53 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:29207 | Reactive arthritis | | | | 4 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | HOXC13 CL E G H | 3229 | 5125 | OMIM:614931 | Ectodermal dysplasia 9, Hair/nail type | | | | 3 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:217059 | Isolated congenital digital clubbing | | | | 55 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | | | | 52 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | IL36RN CL E G H | 26525 | 15561 | OMIM:614204 | PSORIASIS 14, PUSTULAR; PSORS14 | | | | 51 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ITGA3 CL E G H | 3675 | 6139 | OMIM:614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | | | | 6 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ITGA6 CL E G H | 3655 | 6142 | ORPHA:79403 | Junctional epidermolysis bullosa with pyloric atresia | HP:0040283 - Occasional | | | 79 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | HP:0040283 - Occasional | | | 124 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ITGB4 CL E G H | 3691 | 6158 | OMIM:619816 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A | | | | 124 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ITGB4 CL E G H | 3691 | 6158 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | . | | | 124 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 124 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79403 | Junctional epidermolysis bullosa with pyloric atresia | HP:0040283 - Occasional | | | 124 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 124 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | JUP CL E G H | 3728 | 6207 | OMIM:601214 | Naxos disease | . | | | 222 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KDF1 CL E G H | 126695 | 26624 | OMIM:617337 | Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type | . | | | 1 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KIF1A CL E G H | 547 | 888 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | | | | 276 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KLHL24 CL E G H | 54800 | 25947 | OMIM:617294 | Epidermolysis bullosa simplex, generalized, with scarring and hair loss | | | | 5 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 196 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:79503 | Ichthyosis hystrix of Curth-Macklin | HP:0040282 - Frequent | | | 100 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79399 | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | HP:0040283 - Occasional | | | 110 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040281 - Very frequent | | | 110 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:89838 | Autosomal recessive generalized epidermolysis bullosa simplex | | | | 110 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:125595 | Dermatopathia pigmentosa reticularis | . | | | 110 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79397 | Epidermolysis bullosa simplex with mottled pigmentation | HP:0040282 - Frequent | | | 110 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:131760 | Epidermolysis bullosa simplex, Dowling-Meara type | . | | | 110 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79400 | Localized epidermolysis bullosa simplex | HP:0040284 - Very rare | | | 110 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:69087 | Naegeli-Franceschetti-Jadassohn syndrome | | | | 110 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | HP:0040281 - Very frequent | | | 27 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT16 CL E G H | 3868 | 6423 | OMIM:167200 | Pachyonychia congenita, type 1 | | | | 27 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | HP:0040281 - Very frequent | | | 23 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT17 CL E G H | 3872 | 6427 | OMIM:167210 | Pachyonychia congenita 2 | . | | | 23 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79399 | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | HP:0040283 - Occasional | | | 173 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040281 - Very frequent | | | 173 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:619594 | EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C | | | | 173 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:131960 | Epidermolysis bullosa simplex with mottled pigmentation | . | | | 173 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79397 | Epidermolysis bullosa simplex with mottled pigmentation | HP:0040282 - Frequent | | | 173 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:131760 | Epidermolysis bullosa simplex, Dowling-Meara type | . | | | 173 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79400 | Localized epidermolysis bullosa simplex | HP:0040284 - Very rare | | | 173 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | HP:0040281 - Very frequent | | | 41 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT6A CL E G H | 3853 | 6443 | OMIM:615726 | Pachyonychia congenita 3 | | | | 41 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | HP:0040281 - Very frequent | | | 4 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT6B CL E G H | 3854 | 6444 | OMIM:615728 | Pachyonychia congenita 4 | . | | | 4 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT74 CL E G H | 121391 | 28929 | OMIM:614929 | Ectodermal dysplasia 7, Hair/nail type | | | | 5 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT81 CL E G H | 3887 | 6458 | OMIM:158000 | MONILETHRIX | . | | | 3 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT83 CL E G H | 3889 | 6460 | OMIM:158000 | MONILETHRIX | . | | | 65 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT85 CL E G H | 3891 | 6462 | OMIM:602032 | Ectodermal dysplasia 4, Hair/nail type | . | | | 2 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | KRT86 CL E G H | 3892 | 6463 | OMIM:158000 | MONILETHRIX | . | | | 10 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | LAMA3 CL E G H | 3909 | 6483 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | . | | | 116 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 116 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | LAMA3 CL E G H | 3909 | 6483 | OMIM:245660 | Laryngoonychocutaneous syndrome | | | | 116 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 116 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | LAMB3 CL E G H | 3914 | 6490 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | . | | | 167 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | LAMB3 CL E G H | 3914 | 6490 | OMIM:226650 | Epidermolysis bullosa, junctional, Non-Herlitz type | . | | | 167 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 167 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 167 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | LAMC2 CL E G H | 3918 | 6493 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | . | | | 135 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 135 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 135 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | | | | 645 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | LORICRIN CL E G H | 4014 | 6663 | ORPHA:79395 | Keratoderma hereditarium mutilans with ichthyosis | HP:0040283 - Occasional | | | | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | MAF CL E G H | 4094 | 6776 | OMIM:601088 | Ayme-Gripp syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 134 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 178 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:619692 | TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9 | | | | | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | . | | | 22 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308800 | Keratosis follicularis spinulosa decalvans, X-linked | | | | 22 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040282 - Frequent | | | 6 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | MMP1 CL E G H | 4312 | 7155 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | . | | | 6 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | MVK CL E G H | 4598 | 7530 | OMIM:175900 | Porokeratosis 3, multiple types | HP:0040283 - Occasional | | | 150 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 27 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | NHP2 CL E G H | 55651 | 14377 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | . | | | 27 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | NHP2 CL E G H | 55651 | 14377 | OMIM:613987 | Dyskeratosis congenita, autosomal recessive, 2 | . | | | 27 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:615225 | Palmoplantar carcinoma, multiple self-healing | HP:0040283 - Occasional | | | 37 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 17 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | NOP10 CL E G H | 55505 | 14378 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | . | | | 17 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:616028 | Adams-Oliver syndrome 5 | | | | 452 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 12 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | . | | | 97 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 26 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | PARN CL E G H | 5073 | 8609 | OMIM:616353 | Dyskeratosis congenita, autosomal recessive 6 | . | | | 26 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 26 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | PERP CL E G H | 64065 | 17637 | OMIM:619209 | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7 | | | | | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:616617 | Heimler syndrome 2 | | | | 98 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040284 - Very rare | | | 11 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | PKP1 CL E G H | 5317 | 9023 | ORPHA:158668 | Ectodermal dysplasia-skin fragility syndrome | HP:0040281 - Very frequent | | | 107 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | PKP1 CL E G H | 5317 | 9023 | OMIM:604536 | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | | | | 107 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:226670 | Epidermolysis bullosa simplex with muscular dystrophy | . | | | 759 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:616487 | Epidermolysis bullosa simplex with nail dystrophy | . | | | 759 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | HP:0040283 - Occasional | | | 759 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | . | | | 759 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | POMP CL E G H | 51371 | 20330 | OMIM:601952 | Keratosis linearis with ichthyosis congenita and sclerosing keratoderma | . | | | 2 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93947 | X-linked intellectual disability, Golabi-Ito-Hall type | HP:0040282 - Frequent | | | 28 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | | | | 50 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | | | | 10 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | RETREG1 CL E G H | 54463 | 25964 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | | | | 54 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | RPA1 CL E G H | 6117 | 10289 | OMIM:619767 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6 | | | | | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | RSPO1 CL E G H | 284654 | 21679 | OMIM:610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal | . | | | 3 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 77 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | RTEL1 CL E G H | 51750 | 15888 | OMIM:615190 | Dyskeratosis congenita, autosomal recessive 5 | HP:0040283 - Occasional | | | 77 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 77 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | | | | 90 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | SASH1 CL E G H | 23328 | 19182 | OMIM:618373 | Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | . | | | 1 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | | | | 318 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:129200 | Basan syndrome | | | | 6 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:181600 | Huriez syndrome | | | | 6 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:616938 | Coffin-Siris syndrome 5 | | | | 47 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:619016 | IFAP SYNDROME 2; IFAP2 | | | | 1 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | HP:0040283 - Occasional | | | 1 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | | | | 110 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 48 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | TERC CL E G H | 7012 | 11727 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 48 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 238 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | . | | | 238 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | TERT CL E G H | 7015 | 11730 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 238 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 238 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:100976 | Bathing suit ichthyosis | HP:0040283 - Occasional | | | 98 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | TGM1 CL E G H | 7051 | 11777 | OMIM:242300 | Ichthyosis, congenital, autosomal recessive 1 | HP:0040283 - Occasional | | | 98 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 60 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 60 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:268130 | Revesz syndrome | . | | | 60 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | TNFRSF1B CL E G H | 7133 | 11917 | ORPHA:3162 | Sézary syndrome | HP:0040282 - Frequent | | | | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | . | | | 140 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | | | | 140 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | TRPV3 CL E G H | 162514 | 18084 | OMIM:614594 | Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques | . | | | 151 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040284 - Very rare | | | 26 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | TYMS CL E G H | 7298 | 12441 | OMIM:620040 | | | | | 1 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 1 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040283 - Occasional | | | 7 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 8 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | WNK1 CL E G H | 65125 | 14540 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | | | | 199 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | | | | 71 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:150400 | Tooth agenesis, selective, 4 | | | | 71 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 40 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | WRAP53 CL E G H | 55135 | 25522 | OMIM:613988 | Dyskeratosis congenita, autosomal recessive, 3 | . | | | 40 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | | | | 83 | | |
HP:0008404 | HP:0008404 | Nail dystrophy | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:90154 | Mandibuloacral dysplasia with type B lipodystrophy | HP:0040282 - Frequent | | | 83 | | |
HP:0008404 | HP:0030818 | Central nail canal | 1 | CL E G H | | | | | | | | | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | COL17A1 CL E G H | 1308 | 2194 | OMIM:619787 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4 | | | | 129 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 129 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 129 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:231568 | Autosomal dominant generalized dystrophic epidermolysis bullosa | HP:0040283 - Occasional | | | 263 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:231568 | Autosomal dominant generalized dystrophic epidermolysis bullosa | HP:0040282 - Frequent | | | 263 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158673 | Localized dystrophic epidermolysis bullosa, acral form | HP:0040282 - Frequent | | | 263 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158673 | Localized dystrophic epidermolysis bullosa, acral form | HP:0040282 - Frequent | | | 263 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158676 | Localized dystrophic epidermolysis bullosa, nails only | HP:0040282 - Frequent | | | 263 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158676 | Localized dystrophic epidermolysis bullosa, nails only | HP:0040282 - Frequent | | | 263 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | COL7A1 CL E G H | 1294 | 2214 | OMIM:607523 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8 | | | | 263 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | DST CL E G H | 667 | 1090 | OMIM:615425 | Epidermolysis bullosa simplex, autosomal recessive 2 | | | | 108 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:29207 | Reactive arthritis | HP:0040281 - Very frequent | | | 4 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | HPGD CL E G H | 3248 | 5154 | ORPHA:217059 | Isolated congenital digital clubbing | | | | 55 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040283 - Occasional | | | 52 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 124 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 124 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | KIF1A CL E G H | 547 | 888 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | HP:0040281 - Very frequent | | | 276 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | KIF1A CL E G H | 547 | 888 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | HP:0040281 - Very frequent | | | 276 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | KLHL24 CL E G H | 54800 | 25947 | OMIM:617294 | Epidermolysis bullosa simplex, generalized, with scarring and hair loss | | | | 5 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | KRT14 CL E G H | 3861 | 6416 | ORPHA:89838 | Autosomal recessive generalized epidermolysis bullosa simplex | HP:0040283 - Occasional | | | 110 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | KRT14 CL E G H | 3861 | 6416 | ORPHA:69087 | Naegeli-Franceschetti-Jadassohn syndrome | HP:0040281 - Very frequent | | | 110 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | KRT5 CL E G H | 3852 | 6442 | OMIM:619594 | EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C | | | | 173 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | KRT74 CL E G H | 121391 | 28929 | OMIM:614929 | Ectodermal dysplasia 7, Hair/nail type | . | | | 5 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | KRT74 CL E G H | 121391 | 28929 | OMIM:614929 | Ectodermal dysplasia 7, Hair/nail type | . | | | 5 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 645 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 645 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308800 | Keratosis follicularis spinulosa decalvans, X-linked | . | | | 22 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:616028 | Adams-Oliver syndrome 5 | . | | | 452 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | PERP CL E G H | 64065 | 17637 | OMIM:619209 | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7 | | | | | | |
HP:0008404 | HP:0041093 | Beau's lines | 1 | PEX6 CL E G H | 5190 | 8859 | OMIM:616617 | Heimler syndrome 2 | | | | 98 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | PKP1 CL E G H | 5317 | 9023 | OMIM:604536 | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | | | | 107 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | . | | | 50 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | RETREG1 CL E G H | 54463 | 25964 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | HP:0040281 - Very frequent | | | 54 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | RETREG1 CL E G H | 54463 | 25964 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | HP:0040281 - Very frequent | | | 54 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040283 - Occasional | | | 90 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040283 - Occasional | | | 90 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | SCN9A CL E G H | 6335 | 10597 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | HP:0040281 - Very frequent | | | 318 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | SCN9A CL E G H | 6335 | 10597 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | HP:0040281 - Very frequent | | | 318 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:616938 | Coffin-Siris syndrome 5 | . | | | 47 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | WNK1 CL E G H | 65125 | 14540 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | HP:0040281 - Very frequent | | | 199 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | WNK1 CL E G H | 65125 | 14540 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | HP:0040281 - Very frequent | | | 199 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | . | | | 71 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | | | | 71 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | WNT10A CL E G H | 80326 | 13829 | OMIM:150400 | Tooth agenesis, selective, 4 | | | | 71 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | WNT10A CL E G H | 80326 | 13829 | OMIM:150400 | Tooth agenesis, selective, 4 | | | | 71 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | . | | | 17 | | |
HP:0008404 | HP:0001810 | Dystrophic toenail | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0008404 | HP:0008391 | Dystrophic fingernails | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 83 | | |