Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin adnexa morphology (HP:0011138)help
Parent Node:
expand
Abnormality of the nail (HP:0001597)help
..Starting node
..expand
Nail dystrophy (HP:0008404)help
Term ID: 8404
Name: Nail dystrophy
Synonym: Dystrophic nails; Onychodystrophy; Poor nail formation
Definition: Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Comments:
Reference: HP:0008404
Genes and Diseases:
 
       Child Nodes:
........expandDystrophic toenail (HP:0001810) help
........expandDystrophic fingernails (HP:0008391) help
........expandCentral nail canal (HP:0030818) help

 Sister Nodes: 
..expandAbnormal fingernail morphology (HP:0001231) help
..expandAbnormal nail growth (HP:0030807) help
..expandAbnormal toenail morphology (HP:0008388) help
..expandAbnormality of nail color (HP:0100643) help
..expandAbnormality of the periungual region (HP:0100803) help
..expandAbnormality of the subungual region (HP:0009723) help
..expandAbsent lunula (HP:0030805) help
..expandAplasia/Hypoplasia of the nails (HP:0008386) help
..expandBeaked nails (HP:0030817) help
..expandChronic monilial nail infection (HP:0008396) help
..expandFragile nails (HP:0001808) help
..expandIngrown nail (HP:0012710) help
..expandNail bed hemorrhage (HP:0030254) help
..expandNail bed telangiectasia (HP:0001232) help
..expandNail dysplasia (HP:0002164) help
..expandNeoplasm of the nail (HP:0100826) help
..expandOnychogryposis (HP:0001805) help
..expandOnycholysis (HP:0001806) help
..expandPterygium of nails (HP:0002165) help
..expandPyramidal skinfold extending from the base to the top of the nails (HP:0009758) help
..expandRagged cuticle (HP:0030808) help
..expandRecurrent loss of toenails and fingernails (HP:0008390) help
..expandSki jump nail (HP:0030819) help
..expandThin nail (HP:0001816) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008404HP:0008404Nail dystrophy0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare7
HP:0008404HP:0008404Nail dystrophy0ABCA1 CL E G H1929OMIM:205400Tangier disease.191
HP:0008404HP:0008404Nail dystrophy0ABCA1 CL E G H1929ORPHA:31150Tangier diseaseHP:0040282 - Frequent191
HP:0008404HP:0008404Nail dystrophy0ACD CL E G H6505725070OMIM:616553Dyskeratosis congenita, autosomal dominant 6.11
HP:0008404HP:0008404Nail dystrophy0ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent11
HP:0008404HP:0008404Nail dystrophy0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0008404HP:0008404Nail dystrophy0ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0008404HP:0008404Nail dystrophy0AP1S3 CL E G H13034018971OMIM:616106Psoriasis 15, pustular, susceptibility to.2
HP:0008404HP:0008404Nail dystrophy0ATL1 CL E G H5106211231OMIM:613708Neuropathy, hereditary sensory, type ID.71
HP:0008404HP:0008404Nail dystrophy0ATP2A2 CL E G H488812ORPHA:79151Acrokeratosis verruciformis of HopfHP:0040281 - Very frequent86
HP:0008404HP:0008404Nail dystrophy0ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant.5
HP:0008404HP:0008404Nail dystrophy0ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familial168
HP:0008404HP:0008404Nail dystrophy0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome22
HP:0008404HP:0008404Nail dystrophy0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0008404HP:0008404Nail dystrophy0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0008404HP:0008404Nail dystrophy0CD151 CL E G H9771630OMIM:609057NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS1
HP:0008404HP:0008404Nail dystrophy0CD28 CL E G H9401653ORPHA:3162Sézary syndromeHP:0040282 - Frequent
HP:0008404HP:0008404Nail dystrophy0CDSN CL E G H10411802OMIM:270300Peeling skin syndrome 17
HP:0008404HP:0008404Nail dystrophy0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare2
HP:0008404HP:0008404Nail dystrophy0COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0008404HP:0008404Nail dystrophy0COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040282 - Frequent129
HP:0008404HP:0008404Nail dystrophy0COL17A1 CL E G H13082194ORPHA:79406Late-onset junctional epidermolysis bullosaHP:0040282 - Frequent129
HP:0008404HP:0008404Nail dystrophy0COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent129
HP:0008404HP:0008404Nail dystrophy0COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosaHP:0040282 - Frequent263
HP:0008404HP:0008404Nail dystrophy0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040282 - Frequent263
HP:0008404HP:0008404Nail dystrophy0COL7A1 CL E G H12942214ORPHA:89843Dystrophic epidermolysis bullosa pruriginosaHP:0040282 - Frequent263
HP:0008404HP:0008404Nail dystrophy0COL7A1 CL E G H12942214OMIM:131750Epidermolysis bullosa dystrophica, autosomal dominant.263
HP:0008404HP:0008404Nail dystrophy0COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.263
HP:0008404HP:0008404Nail dystrophy0COL7A1 CL E G H12942214OMIM:131850Epidermolysis bullosa dystrophica, pretibial.263
HP:0008404HP:0008404Nail dystrophy0COL7A1 CL E G H12942214OMIM:604129Epidermolysis bullosa pruriginosa.263
HP:0008404HP:0008404Nail dystrophy0COL7A1 CL E G H12942214OMIM:132000Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails.263
HP:0008404HP:0008404Nail dystrophy0COL7A1 CL E G H12942214ORPHA:158673Localized dystrophic epidermolysis bullosa, acral form263
HP:0008404HP:0008404Nail dystrophy0COL7A1 CL E G H12942214ORPHA:158676Localized dystrophic epidermolysis bullosa, nails onlyHP:0040281 - Very frequent263
HP:0008404HP:0008404Nail dystrophy0COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial formHP:0040282 - Frequent263
HP:0008404HP:0008404Nail dystrophy0COL7A1 CL E G H12942214OMIM:607523NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8263
HP:0008404HP:0008404Nail dystrophy0COL7A1 CL E G H12942214ORPHA:79409Recessive dystrophic epidermolysis bullosa inversaHP:0040282 - Frequent263
HP:0008404HP:0008404Nail dystrophy0COL7A1 CL E G H12942214ORPHA:79411Self-improving dystrophic epidermolysis bullosaHP:0040282 - Frequent263
HP:0008404HP:0008404Nail dystrophy0COL7A1 CL E G H12942214OMIM:131705Transient bullous dermolysis of the newborn.263
HP:0008404HP:0008404Nail dystrophy0CSTA CL E G H14752481OMIM:607936Peeling skin syndrome 4HP:0040283 - Occasional4
HP:0008404HP:0008404Nail dystrophy0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent160
HP:0008404HP:0008404Nail dystrophy0CTLA4 CL E G H14932505ORPHA:3162Sézary syndromeHP:0040282 - Frequent10
HP:0008404HP:0008404Nail dystrophy0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040282 - Frequent50
HP:0008404HP:0008404Nail dystrophy0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent65
HP:0008404HP:0008404Nail dystrophy0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0008404HP:0008404Nail dystrophy0DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent65
HP:0008404HP:0008404Nail dystrophy0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:0008404HP:0008404Nail dystrophy0DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0008404HP:0008404Nail dystrophy0DSP CL E G H18323052OMIM:615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesisHP:0040283 - Occasional747
HP:0008404HP:0008404Nail dystrophy0DSP CL E G H18323052OMIM:607655Skin fragility-woolly hair syndrome.747
HP:0008404HP:0008404Nail dystrophy0DST CL E G H6671090OMIM:615425Epidermolysis bullosa simplex, autosomal recessive 2HP:0040283 - Occasional108
HP:0008404HP:0008404Nail dystrophy0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0008404HP:0008404Nail dystrophy0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive.106
HP:0008404HP:0008404Nail dystrophy0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0008404HP:0008404Nail dystrophy0EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent209
HP:0008404HP:0008404Nail dystrophy0EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent137
HP:0008404HP:0008404Nail dystrophy0FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I.493
HP:0008404HP:0008404Nail dystrophy0FOCAD CL E G H5491423377OMIM:6199913
HP:0008404HP:0008404Nail dystrophy0FOXN1 CL E G H845612765OMIM:601705T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY.54
HP:0008404HP:0008404Nail dystrophy0FOXN1 CL E G H845612765OMIM:618806T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND54
HP:0008404HP:0008404Nail dystrophy0FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeHP:0040283 - Occasional32
HP:0008404HP:0008404Nail dystrophy0GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0008404HP:0008404Nail dystrophy0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant.199
HP:0008404HP:0008404Nail dystrophy0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0008404HP:0008404Nail dystrophy0GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0008404HP:0008404Nail dystrophy0GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0008404HP:0008404Nail dystrophy0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0008404HP:0008404Nail dystrophy0GRHL2 CL E G H799772799OMIM:616029Ectodermal dysplasia/short stature syndrome.33
HP:0008404HP:0008404Nail dystrophy0GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040284 - Very rare53
HP:0008404HP:0008404Nail dystrophy0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0008404HP:0008404Nail dystrophy0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0008404HP:0008404Nail dystrophy0HLA-B CL E G H31064932ORPHA:29207Reactive arthritis4
HP:0008404HP:0008404Nail dystrophy0HOXC13 CL E G H32295125OMIM:614931Ectodermal dysplasia 9, Hair/nail type3
HP:0008404HP:0008404Nail dystrophy0HPGD CL E G H32485154ORPHA:217059Isolated congenital digital clubbing55
HP:0008404HP:0008404Nail dystrophy0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmenti52
HP:0008404HP:0008404Nail dystrophy0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0008404HP:0008404Nail dystrophy0IL36RN CL E G H2652515561OMIM:614204PSORIASIS 14, PUSTULAR; PSORS1451
HP:0008404HP:0008404Nail dystrophy0ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital6
HP:0008404HP:0008404Nail dystrophy0ITGA6 CL E G H36556142ORPHA:79403Junctional epidermolysis bullosa with pyloric atresiaHP:0040283 - Occasional79
HP:0008404HP:0008404Nail dystrophy0ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional124
HP:0008404HP:0008404Nail dystrophy0ITGB4 CL E G H36916158OMIM:619816EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A124
HP:0008404HP:0008404Nail dystrophy0ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.124
HP:0008404HP:0008404Nail dystrophy0ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040282 - Frequent124
HP:0008404HP:0008404Nail dystrophy0ITGB4 CL E G H36916158ORPHA:79403Junctional epidermolysis bullosa with pyloric atresiaHP:0040283 - Occasional124
HP:0008404HP:0008404Nail dystrophy0ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent124
HP:0008404HP:0008404Nail dystrophy0JUP CL E G H37286207OMIM:601214Naxos disease.222
HP:0008404HP:0008404Nail dystrophy0KDF1 CL E G H12669526624OMIM:617337Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type.1
HP:0008404HP:0008404Nail dystrophy0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0008404HP:0008404Nail dystrophy0KIF1A CL E G H547888ORPHA:970Hereditary sensory and autonomic neuropathy type 2276
HP:0008404HP:0008404Nail dystrophy0KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0008404HP:0008404Nail dystrophy0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0008404HP:0008404Nail dystrophy0KRT1 CL E G H38486412ORPHA:79503Ichthyosis hystrix of Curth-MacklinHP:0040282 - Frequent100
HP:0008404HP:0008404Nail dystrophy0KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040283 - Occasional110
HP:0008404HP:0008404Nail dystrophy0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040281 - Very frequent110
HP:0008404HP:0008404Nail dystrophy0KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplex110
HP:0008404HP:0008404Nail dystrophy0KRT14 CL E G H38616416OMIM:125595Dermatopathia pigmentosa reticularis.110
HP:0008404HP:0008404Nail dystrophy0KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040282 - Frequent110
HP:0008404HP:0008404Nail dystrophy0KRT14 CL E G H38616416OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type.110
HP:0008404HP:0008404Nail dystrophy0KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplexHP:0040284 - Very rare110
HP:0008404HP:0008404Nail dystrophy0KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0008404HP:0008404Nail dystrophy0KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent27
HP:0008404HP:0008404Nail dystrophy0KRT16 CL E G H38686423OMIM:167200Pachyonychia congenita, type 127
HP:0008404HP:0008404Nail dystrophy0KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent23
HP:0008404HP:0008404Nail dystrophy0KRT17 CL E G H38726427OMIM:167210Pachyonychia congenita 2.23
HP:0008404HP:0008404Nail dystrophy0KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040283 - Occasional173
HP:0008404HP:0008404Nail dystrophy0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040281 - Very frequent173
HP:0008404HP:0008404Nail dystrophy0KRT5 CL E G H38526442OMIM:619594EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C173
HP:0008404HP:0008404Nail dystrophy0KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation.173
HP:0008404HP:0008404Nail dystrophy0KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040282 - Frequent173
HP:0008404HP:0008404Nail dystrophy0KRT5 CL E G H38526442OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type.173
HP:0008404HP:0008404Nail dystrophy0KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplexHP:0040284 - Very rare173
HP:0008404HP:0008404Nail dystrophy0KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent41
HP:0008404HP:0008404Nail dystrophy0KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 341
HP:0008404HP:0008404Nail dystrophy0KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent4
HP:0008404HP:0008404Nail dystrophy0KRT6B CL E G H38546444OMIM:615728Pachyonychia congenita 4.4
HP:0008404HP:0008404Nail dystrophy0KRT74 CL E G H12139128929OMIM:614929Ectodermal dysplasia 7, Hair/nail type5
HP:0008404HP:0008404Nail dystrophy0KRT81 CL E G H38876458OMIM:158000MONILETHRIX.3
HP:0008404HP:0008404Nail dystrophy0KRT83 CL E G H38896460OMIM:158000MONILETHRIX.65
HP:0008404HP:0008404Nail dystrophy0KRT85 CL E G H38916462OMIM:602032Ectodermal dysplasia 4, Hair/nail type.2
HP:0008404HP:0008404Nail dystrophy0KRT86 CL E G H38926463OMIM:158000MONILETHRIX.10
HP:0008404HP:0008404Nail dystrophy0LAMA3 CL E G H39096483OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.116
HP:0008404HP:0008404Nail dystrophy0LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040282 - Frequent116
HP:0008404HP:0008404Nail dystrophy0LAMA3 CL E G H39096483OMIM:245660Laryngoonychocutaneous syndrome116
HP:0008404HP:0008404Nail dystrophy0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional116
HP:0008404HP:0008404Nail dystrophy0LAMB3 CL E G H39146490OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.167
HP:0008404HP:0008404Nail dystrophy0LAMB3 CL E G H39146490OMIM:226650Epidermolysis bullosa, junctional, Non-Herlitz type.167
HP:0008404HP:0008404Nail dystrophy0LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040282 - Frequent167
HP:0008404HP:0008404Nail dystrophy0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional167
HP:0008404HP:0008404Nail dystrophy0LAMC2 CL E G H39186493OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.135
HP:0008404HP:0008404Nail dystrophy0LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040282 - Frequent135
HP:0008404HP:0008404Nail dystrophy0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional135
HP:0008404HP:0008404Nail dystrophy0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndrome645
HP:0008404HP:0008404Nail dystrophy0LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosisHP:0040283 - Occasional
HP:0008404HP:0008404Nail dystrophy0MAF CL E G H40946776OMIM:601088Ayme-Gripp syndromeHP:0040283 - Occasional21
HP:0008404HP:0008404Nail dystrophy0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0008404HP:0008404Nail dystrophy0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0008404HP:0008404Nail dystrophy0MARS1 CL E G H41416898OMIM:619692TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0008404HP:0008404Nail dystrophy0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome.22
HP:0008404HP:0008404Nail dystrophy0MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked22
HP:0008404HP:0008404Nail dystrophy0MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040282 - Frequent6
HP:0008404HP:0008404Nail dystrophy0MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.6
HP:0008404HP:0008404Nail dystrophy0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0008404HP:0008404Nail dystrophy0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0008404HP:0008404Nail dystrophy0MVK CL E G H45987530OMIM:175900Porokeratosis 3, multiple typesHP:0040283 - Occasional150
HP:0008404HP:0008404Nail dystrophy0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040282 - Frequent4
HP:0008404HP:0008404Nail dystrophy0NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndromeHP:0040282 - Frequent11
HP:0008404HP:0008404Nail dystrophy0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent27
HP:0008404HP:0008404Nail dystrophy0NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 1.27
HP:0008404HP:0008404Nail dystrophy0NHP2 CL E G H5565114377OMIM:613987Dyskeratosis congenita, autosomal recessive, 2.27
HP:0008404HP:0008404Nail dystrophy0NLRP1 CL E G H2286114374OMIM:615225Palmoplantar carcinoma, multiple self-healingHP:0040283 - Occasional37
HP:0008404HP:0008404Nail dystrophy0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent17
HP:0008404HP:0008404Nail dystrophy0NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 1.17
HP:0008404HP:0008404Nail dystrophy0NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5452
HP:0008404HP:0008404Nail dystrophy0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent12
HP:0008404HP:0008404Nail dystrophy0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0008404HP:0008404Nail dystrophy0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent26
HP:0008404HP:0008404Nail dystrophy0PARN CL E G H50738609OMIM:616353Dyskeratosis congenita, autosomal recessive 6.26
HP:0008404HP:0008404Nail dystrophy0PARN CL E G H50738609ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent26
HP:0008404HP:0008404Nail dystrophy0PERP CL E G H6406517637OMIM:619209ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0008404HP:0008404Nail dystrophy0PEX6 CL E G H51908859OMIM:616617Heimler syndrome 298
HP:0008404HP:0008404Nail dystrophy0PI4KA CL E G H52978983ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040284 - Very rare11
HP:0008404HP:0008404Nail dystrophy0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndromeHP:0040281 - Very frequent107
HP:0008404HP:0008404Nail dystrophy0PKP1 CL E G H53179023OMIM:604536ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME107
HP:0008404HP:0008404Nail dystrophy0PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy.759
HP:0008404HP:0008404Nail dystrophy0PLEC CL E G H53399069OMIM:616487Epidermolysis bullosa simplex with nail dystrophy.759
HP:0008404HP:0008404Nail dystrophy0PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional759
HP:0008404HP:0008404Nail dystrophy0PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.759
HP:0008404HP:0008404Nail dystrophy0POMP CL E G H5137120330OMIM:601952Keratosis linearis with ichthyosis congenita and sclerosing keratoderma.2
HP:0008404HP:0008404Nail dystrophy0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0008404HP:0008404Nail dystrophy0PQBP1 CL E G H100849330ORPHA:93947X-linked intellectual disability, Golabi-Ito-Hall typeHP:0040282 - Frequent28
HP:0008404HP:0008404Nail dystrophy0RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0008404HP:0008404Nail dystrophy0RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency10
HP:0008404HP:0008404Nail dystrophy0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0008404HP:0008404Nail dystrophy0RETREG1 CL E G H5446325964ORPHA:970Hereditary sensory and autonomic neuropathy type 254
HP:0008404HP:0008404Nail dystrophy0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0008404HP:0008404Nail dystrophy0RPA1 CL E G H611710289OMIM:619767PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0008404HP:0008404Nail dystrophy0RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal.3
HP:0008404HP:0008404Nail dystrophy0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent77
HP:0008404HP:0008404Nail dystrophy0RTEL1 CL E G H5175015888OMIM:615190Dyskeratosis congenita, autosomal recessive 5HP:0040283 - Occasional77
HP:0008404HP:0008404Nail dystrophy0RTEL1 CL E G H5175015888ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent77
HP:0008404HP:0008404Nail dystrophy0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:0008404HP:0008404Nail dystrophy0SASH1 CL E G H2332819182OMIM:618373Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma.1
HP:0008404HP:0008404Nail dystrophy0SCN9A CL E G H633510597ORPHA:970Hereditary sensory and autonomic neuropathy type 2318
HP:0008404HP:0008404Nail dystrophy0SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0008404HP:0008404Nail dystrophy0SMARCAD1 CL E G H5691618398OMIM:181600Huriez syndrome6
HP:0008404HP:0008404Nail dystrophy0SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0008404HP:0008404Nail dystrophy0SREBF1 CL E G H672011289OMIM:619016IFAP SYNDROME 2; IFAP21
HP:0008404HP:0008404Nail dystrophy0SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditaryHP:0040283 - Occasional1
HP:0008404HP:0008404Nail dystrophy0STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndrome110
HP:0008404HP:0008404Nail dystrophy0STING1 CL E G H34006127962OMIM:615934STING-associated vasculopathy, infantile-onset
HP:0008404HP:0008404Nail dystrophy0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0008404HP:0008404Nail dystrophy0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent48
HP:0008404HP:0008404Nail dystrophy0TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.48
HP:0008404HP:0008404Nail dystrophy0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent238
HP:0008404HP:0008404Nail dystrophy0TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2.238
HP:0008404HP:0008404Nail dystrophy0TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.238
HP:0008404HP:0008404Nail dystrophy0TERT CL E G H701511730ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent238
HP:0008404HP:0008404Nail dystrophy0TGM1 CL E G H705111777ORPHA:100976Bathing suit ichthyosisHP:0040283 - Occasional98
HP:0008404HP:0008404Nail dystrophy0TGM1 CL E G H705111777OMIM:242300Ichthyosis, congenital, autosomal recessive 1HP:0040283 - Occasional98
HP:0008404HP:0008404Nail dystrophy0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent60
HP:0008404HP:0008404Nail dystrophy0TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.60
HP:0008404HP:0008404Nail dystrophy0TINF2 CL E G H2627711824ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent60
HP:0008404HP:0008404Nail dystrophy0TINF2 CL E G H2627711824OMIM:268130Revesz syndrome.60
HP:0008404HP:0008404Nail dystrophy0TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndromeHP:0040282 - Frequent
HP:0008404HP:0008404Nail dystrophy0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0008404HP:0008404Nail dystrophy0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0008404HP:0008404Nail dystrophy0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040281 - Very frequent140
HP:0008404HP:0008404Nail dystrophy0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0008404HP:0008404Nail dystrophy0TRPV3 CL E G H16251418084OMIM:614594Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques.151
HP:0008404HP:0008404Nail dystrophy0TTC7A CL E G H5721719750ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040284 - Very rare26
HP:0008404HP:0008404Nail dystrophy0TYMS CL E G H729812441OMIM:6200401
HP:0008404HP:0008404Nail dystrophy0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent1
HP:0008404HP:0008404Nail dystrophy0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0008404HP:0008404Nail dystrophy0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040283 - Occasional7
HP:0008404HP:0008404Nail dystrophy0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent8
HP:0008404HP:0008404Nail dystrophy0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0008404HP:0008404Nail dystrophy0WNK1 CL E G H6512514540ORPHA:970Hereditary sensory and autonomic neuropathy type 2199
HP:0008404HP:0008404Nail dystrophy0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0008404HP:0008404Nail dystrophy0WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0008404HP:0008404Nail dystrophy0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent40
HP:0008404HP:0008404Nail dystrophy0WRAP53 CL E G H5513525522OMIM:613988Dyskeratosis congenita, autosomal recessive, 3.40
HP:0008404HP:0008404Nail dystrophy0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0008404HP:0008404Nail dystrophy0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndrome83
HP:0008404HP:0008404Nail dystrophy0ZMPSTE24 CL E G H1026912877ORPHA:90154Mandibuloacral dysplasia with type B lipodystrophyHP:0040282 - Frequent83
HP:0008404HP:0030818Central nail canal1 CL E G H
HP:0008404HP:0008391Dystrophic fingernails1BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0008404HP:0008391Dystrophic fingernails1CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0008404HP:0008391Dystrophic fingernails1COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0008404HP:0001810Dystrophic toenail1COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040283 - Occasional129
HP:0008404HP:0008391Dystrophic fingernails1COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040283 - Occasional129
HP:0008404HP:0008391Dystrophic fingernails1COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosaHP:0040283 - Occasional263
HP:0008404HP:0001810Dystrophic toenail1COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosaHP:0040282 - Frequent263
HP:0008404HP:0001810Dystrophic toenail1COL7A1 CL E G H12942214ORPHA:158673Localized dystrophic epidermolysis bullosa, acral formHP:0040282 - Frequent263
HP:0008404HP:0008391Dystrophic fingernails1COL7A1 CL E G H12942214ORPHA:158673Localized dystrophic epidermolysis bullosa, acral formHP:0040282 - Frequent263
HP:0008404HP:0001810Dystrophic toenail1COL7A1 CL E G H12942214ORPHA:158676Localized dystrophic epidermolysis bullosa, nails onlyHP:0040282 - Frequent263
HP:0008404HP:0008391Dystrophic fingernails1COL7A1 CL E G H12942214ORPHA:158676Localized dystrophic epidermolysis bullosa, nails onlyHP:0040282 - Frequent263
HP:0008404HP:0001810Dystrophic toenail1COL7A1 CL E G H12942214OMIM:607523NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8263
HP:0008404HP:0001810Dystrophic toenail1DST CL E G H6671090OMIM:615425Epidermolysis bullosa simplex, autosomal recessive 2108
HP:0008404HP:0008391Dystrophic fingernails1ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0008404HP:0008391Dystrophic fingernails1ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0008404HP:0008391Dystrophic fingernails1GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0008404HP:0008391Dystrophic fingernails1GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0008404HP:0008391Dystrophic fingernails1HLA-B CL E G H31064932ORPHA:29207Reactive arthritisHP:0040281 - Very frequent4
HP:0008404HP:0008391Dystrophic fingernails1HPGD CL E G H32485154ORPHA:217059Isolated congenital digital clubbing55
HP:0008404HP:0001810Dystrophic toenail1IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040283 - Occasional52
HP:0008404HP:0001810Dystrophic toenail1ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040283 - Occasional124
HP:0008404HP:0008391Dystrophic fingernails1ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040283 - Occasional124
HP:0008404HP:0001810Dystrophic toenail1KIF1A CL E G H547888ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent276
HP:0008404HP:0008391Dystrophic fingernails1KIF1A CL E G H547888ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent276
HP:0008404HP:0001810Dystrophic toenail1KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0008404HP:0008391Dystrophic fingernails1KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0008404HP:0001810Dystrophic toenail1KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplexHP:0040283 - Occasional110
HP:0008404HP:0001810Dystrophic toenail1KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndromeHP:0040281 - Very frequent110
HP:0008404HP:0001810Dystrophic toenail1KRT5 CL E G H38526442OMIM:619594EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C173
HP:0008404HP:0001810Dystrophic toenail1KRT74 CL E G H12139128929OMIM:614929Ectodermal dysplasia 7, Hair/nail type.5
HP:0008404HP:0008391Dystrophic fingernails1KRT74 CL E G H12139128929OMIM:614929Ectodermal dysplasia 7, Hair/nail type.5
HP:0008404HP:0008391Dystrophic fingernails1LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent645
HP:0008404HP:0001810Dystrophic toenail1LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent645
HP:0008404HP:0008391Dystrophic fingernails1MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0008404HP:0008391Dystrophic fingernails1MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0008404HP:0008391Dystrophic fingernails1MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked.22
HP:0008404HP:0008391Dystrophic fingernails1MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0008404HP:0001810Dystrophic toenail1NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040282 - Frequent4
HP:0008404HP:0008391Dystrophic fingernails1NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040282 - Frequent4
HP:0008404HP:0001810Dystrophic toenail1NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5.452
HP:0008404HP:0001810Dystrophic toenail1PERP CL E G H6406517637OMIM:619209ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0008404HP:0041093Beau's lines1PEX6 CL E G H51908859OMIM:616617Heimler syndrome 298
HP:0008404HP:0008391Dystrophic fingernails1PKP1 CL E G H53179023OMIM:604536ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME107
HP:0008404HP:0001810Dystrophic toenail1RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B.50
HP:0008404HP:0001810Dystrophic toenail1RETREG1 CL E G H5446325964ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent54
HP:0008404HP:0008391Dystrophic fingernails1RETREG1 CL E G H5446325964ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent54
HP:0008404HP:0008391Dystrophic fingernails1RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0008404HP:0008391Dystrophic fingernails1RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040283 - Occasional90
HP:0008404HP:0001810Dystrophic toenail1RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040283 - Occasional90
HP:0008404HP:0008391Dystrophic fingernails1SCN9A CL E G H633510597ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent318
HP:0008404HP:0001810Dystrophic toenail1SCN9A CL E G H633510597ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent318
HP:0008404HP:0001810Dystrophic toenail1SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 5.47
HP:0008404HP:0008391Dystrophic fingernails1STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndromeHP:0040282 - Frequent110
HP:0008404HP:0008391Dystrophic fingernails1TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0008404HP:0008391Dystrophic fingernails1WNK1 CL E G H6512514540ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent199
HP:0008404HP:0001810Dystrophic toenail1WNK1 CL E G H6512514540ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent199
HP:0008404HP:0008391Dystrophic fingernails1WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia.71
HP:0008404HP:0001810Dystrophic toenail1WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0008404HP:0008391Dystrophic fingernails1WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0008404HP:0001810Dystrophic toenail1WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0008404HP:0008391Dystrophic fingernails1ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome.17
HP:0008404HP:0001810Dystrophic toenail1ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent83
HP:0008404HP:0008391Dystrophic fingernails1ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent83


Genes (133) :AAGAB ABCA1 ACD AIRE ANAPC1 AP1S3 ATL1 ATP2A2 ATP6V1B2 ATR BANF1 BRAF CARS1 CD151 CD28 CDSN COL14A1 COL17A1 COL7A1 CSTA CTC1 CTLA4 CTSC DKC1 DNAJC21 DSG1 DSP DST ERCC2 ERCC3 EVC EVC2 FLNA FOCAD FOXN1 FOXP3 GJA1 GJB2 GJB6 GRHL2 GSN GTF2E2 GTF2H5 HLA-B HOXC13 HPGD IKBKG IL36RN ITGA3 ITGA6 ITGB4 JUP KDF1 KIF15 KIF1A KLHL24 KRAS KRT1 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B KRT74 KRT81 KRT83 KRT85 KRT86 LAMA3 LAMB3 LAMC2 LMNA LORICRIN MAF MAP2K1 MAP2K2 MARS1 MBTPS2 MMP1 MPLKIP MTX2 MVK NECTIN1 NFKB2 NHP2 NLRP1 NOP10 NOTCH1 NPM1 NTRK1 PARN PERP PEX6 PI4KA PKP1 PLEC POMP PORCN PQBP1 RAB7A RBCK1 RECQL4 RETREG1 RNF113A RPA1 RSPO1 RTEL1 RUNX2 SASH1 SCN9A SMARCAD1 SMARCE1 SREBF1 STAT3 STING1 TARS1 TERC TERT TGM1 TINF2 TNFRSF1B TP63 TRPV3 TTC7A TYMS UBE2A USB1 WNK1 WNT10A WRAP53 ZBTB20 ZMPSTE24

Diseases (159) :ORPHA:79501 OMIM:205400 ORPHA:31150 OMIM:616553 ORPHA:3322 OMIM:240300 OMIM:618625 OMIM:616106 OMIM:613708 ORPHA:79151 OMIM:124480 OMIM:614564 OMIM:614008 ORPHA:1340 ORPHA:33364 OMIM:609057 ORPHA:3162 OMIM:270300 OMIM:619787 ORPHA:79402 ORPHA:79406 ORPHA:251393 ORPHA:231568 ORPHA:79408 ORPHA:89843 OMIM:131750 OMIM:226600 OMIM:131850 OMIM:604129 OMIM:132000 ORPHA:158673 ORPHA:158676 ORPHA:79410 OMIM:607523 ORPHA:79409 ORPHA:79411 OMIM:131705 OMIM:607936 ORPHA:1775 ORPHA:678 OMIM:305000 OMIM:617052 OMIM:148700 OMIM:615821 OMIM:607655 OMIM:615425 OMIM:601675 ORPHA:952 OMIM:311300 OMIM:619991 OMIM:601705 OMIM:618806 ORPHA:37042 ORPHA:1010 OMIM:148210 ORPHA:477 OMIM:129500 ORPHA:189 OMIM:616029 ORPHA:85448 ORPHA:29207 OMIM:614931 ORPHA:217059 ORPHA:464 OMIM:308300 OMIM:614204 OMIM:614748 ORPHA:79403 ORPHA:158684 OMIM:619816 OMIM:226730 OMIM:601214 OMIM:617337 ORPHA:261323 ORPHA:970 OMIM:617294 ORPHA:79503 ORPHA:79399 ORPHA:79396 ORPHA:89838 OMIM:125595 ORPHA:79397 OMIM:131760 ORPHA:79400 ORPHA:69087 ORPHA:2309 OMIM:167200 OMIM:167210 OMIM:619594 OMIM:131960 OMIM:615726 OMIM:615728 OMIM:614929 OMIM:158000 OMIM:602032 OMIM:226700 OMIM:245660 ORPHA:79404 OMIM:226650 ORPHA:740 ORPHA:79395 OMIM:601088 OMIM:619692 OMIM:308205 OMIM:308800 OMIM:619127 OMIM:175900 ORPHA:3253 ORPHA:293978 OMIM:224230 OMIM:613987 OMIM:615225 OMIM:616028 OMIM:256800 OMIM:616353 OMIM:619209 OMIM:616617 ORPHA:436252 ORPHA:158668 OMIM:604536 OMIM:226670 OMIM:616487 OMIM:601952 OMIM:305600 ORPHA:93947 OMIM:600882 OMIM:615895 OMIM:268400 OMIM:619767 OMIM:610644 OMIM:615190 ORPHA:1452 OMIM:618373 OMIM:129200 OMIM:181600 OMIM:616938 OMIM:619016 OMIM:158310 ORPHA:2314 OMIM:615934 OMIM:127550 OMIM:613989 ORPHA:100976 OMIM:242300 OMIM:268130 OMIM:106260 OMIM:604292 ORPHA:1896 OMIM:129400 OMIM:614594 OMIM:620040 OMIM:300860 ORPHA:163956 OMIM:604173 OMIM:257980 OMIM:150400 OMIM:613988 OMIM:259050 ORPHA:90154
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.