Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin adnexa morphology (HP:0011138)help
Parent Node:
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Abnormality of the nail (HP:0001597)help
..Starting node
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Abnormal fingernail morphology (HP:0001231)help
Term ID: 1231
Name: Abnormal fingernail morphology
Synonym: Abnormal fingernails; Abnormality of the fingernails
Definition: An abnormality of the fingernails.
Comments:
Reference: HP:0001231
Genes and Diseases:
 
       Child Nodes:
........expandHypoplastic fingernail (HP:0001804) help
................... HP:0008398 Hypoplastic fifth fingernail
................... HP:0012553 Hypoplastic thumbnail
........expandDystrophic fingernails (HP:0008391) help
........expandRidged fingernail (HP:0008402) help
........expandThin fingernail (HP:0012742) help
........expandOnycholysis of fingernails (HP:0040039) help
................... HP:0008400 Onycholysis of distal fingernails
........expandFingernail dysplasia (HP:0100798) help

 Sister Nodes: 
..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
..expandNail dystrophy (HP:0008404) 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:0001231HP:0001231Abnormal fingernail morphology0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0001231HP:0001231Abnormal fingernail morphology0AIP CL E G H9049358ORPHA:963AcromegalyHP:0040282 - Frequent95
HP:0001231HP:0001231Abnormal fingernail morphology0AIRE CL E G H326360ORPHA:3453Autoimmune polyendocrinopathy type 1HP:0040281 - Very frequent92
HP:0001231HP:0001231Abnormal fingernail morphology0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndrome147
HP:0001231HP:0001231Abnormal fingernail morphology0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0001231HP:0001231Abnormal fingernail morphology0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0001231HP:0001231Abnormal fingernail morphology0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0001231HP:0001231Abnormal fingernail morphology0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0001231HP:0001231Abnormal fingernail morphology0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040281 - Very frequent5
HP:0001231HP:0001231Abnormal fingernail morphology0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndrome5
HP:0001231HP:0001231Abnormal fingernail morphology0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001231HP:0001231Abnormal fingernail morphology0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001231HP:0001231Abnormal fingernail morphology0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS78
HP:0001231HP:0001231Abnormal fingernail morphology0BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type CHP:0040282 - Frequent90
HP:0001231HP:0001231Abnormal fingernail morphology0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0001231HP:0001231Abnormal fingernail morphology0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001231HP:0001231Abnormal fingernail morphology0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0001231HP:0001231Abnormal fingernail morphology0CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemiaHP:0040282 - Frequent272
HP:0001231HP:0001231Abnormal fingernail morphology0CCDC22 CL E G H2895228909ORPHA:73C syndrome33
HP:0001231HP:0001231Abnormal fingernail morphology0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutation114
HP:0001231HP:0001231Abnormal fingernail morphology0CENPT CL E G H8015225787OMIM:618702SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001231HP:0001231Abnormal fingernail morphology0CLEC7A CL E G H6458114558ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent3
HP:0001231HP:0001231Abnormal fingernail morphology0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001231HP:0001231Abnormal fingernail morphology0COL11A1 CL E G H13012186ORPHA:2021Fibrochondrogenesis215
HP:0001231HP:0001231Abnormal fingernail morphology0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0001231HP:0001231Abnormal fingernail morphology0COL11A2 CL E G H13022187ORPHA:2021Fibrochondrogenesis222
HP:0001231HP:0001231Abnormal fingernail morphology0COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0001231HP:0001231Abnormal fingernail morphology0COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosa129
HP:0001231HP:0001231Abnormal fingernail morphology0COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosa263
HP:0001231HP:0001231Abnormal fingernail morphology0COL7A1 CL E G H12942214ORPHA:158673Localized dystrophic epidermolysis bullosa, acral form263
HP:0001231HP:0001231Abnormal fingernail morphology0COL7A1 CL E G H12942214ORPHA:158676Localized dystrophic epidermolysis bullosa, nails only263
HP:0001231HP:0001231Abnormal fingernail morphology0COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial formHP:0040282 - Frequent263
HP:0001231HP:0001231Abnormal fingernail morphology0CSTB CL E G H14762482ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent51
HP:0001231HP:0001231Abnormal fingernail morphology0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent160
HP:0001231HP:0001231Abnormal fingernail morphology0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040281 - Very frequent50
HP:0001231HP:0001231Abnormal fingernail morphology0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent65
HP:0001231HP:0001231Abnormal fingernail morphology0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndrome9
HP:0001231HP:0001231Abnormal fingernail morphology0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001231HP:0001231Abnormal fingernail morphology0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndrome18
HP:0001231HP:0001231Abnormal fingernail morphology0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0001231HP:0001231Abnormal fingernail morphology0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0001231HP:0001231Abnormal fingernail morphology0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0001231HP:0001231Abnormal fingernail morphology0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent7
HP:0001231HP:0001231Abnormal fingernail morphology0EDAR CL E G H109132895ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040282 - Frequent86
HP:0001231HP:0001231Abnormal fingernail morphology0EDAR CL E G H109132895ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent86
HP:0001231HP:0001231Abnormal fingernail morphology0EDARADD CL E G H12817814341ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040282 - Frequent56
HP:0001231HP:0001231Abnormal fingernail morphology0EDARADD CL E G H12817814341ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent56
HP:0001231HP:0001231Abnormal fingernail morphology0EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040281 - Very frequent4
HP:0001231HP:0001231Abnormal fingernail morphology0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasia27
HP:0001231HP:0001231Abnormal fingernail morphology0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001231HP:0001231Abnormal fingernail morphology0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0001231HP:0001231Abnormal fingernail morphology0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndrome4
HP:0001231HP:0001231Abnormal fingernail morphology0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0001231HP:0001231Abnormal fingernail morphology0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0001231HP:0001231Abnormal fingernail morphology0EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent209
HP:0001231HP:0001231Abnormal fingernail morphology0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent209
HP:0001231HP:0001231Abnormal fingernail morphology0EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent137
HP:0001231HP:0001231Abnormal fingernail morphology0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent137
HP:0001231HP:0001231Abnormal fingernail morphology0EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040281 - Very frequent81
HP:0001231HP:0001231Abnormal fingernail morphology0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001231HP:0001231Abnormal fingernail morphology0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0001231HP:0001231Abnormal fingernail morphology0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001231HP:0001231Abnormal fingernail morphology0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0001231HP:0001231Abnormal fingernail morphology0GDF5 CL E G H82004220ORPHA:93384Brachydactyly type CHP:0040282 - Frequent52
HP:0001231HP:0001231Abnormal fingernail morphology0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0001231HP:0001231Abnormal fingernail morphology0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent1
HP:0001231HP:0001231Abnormal fingernail morphology0GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemiaHP:0040282 - Frequent16
HP:0001231HP:0001231Abnormal fingernail morphology0GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040282 - Frequent5
HP:0001231HP:0001231Abnormal fingernail morphology0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0001231HP:0001231Abnormal fingernail morphology0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0001231HP:0001231Abnormal fingernail morphology0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001231HP:0001231Abnormal fingernail morphology0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001231HP:0001231Abnormal fingernail morphology0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001231HP:0001231Abnormal fingernail morphology0HLA-B CL E G H31064932ORPHA:29207Reactive arthritis4
HP:0001231HP:0001231Abnormal fingernail morphology0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutation2
HP:0001231HP:0001231Abnormal fingernail morphology0HPGD CL E G H32485154ORPHA:217059Isolated congenital digital clubbing55
HP:0001231HP:0001231Abnormal fingernail morphology0HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040282 - Frequent55
HP:0001231HP:0001231Abnormal fingernail morphology0HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040281 - Very frequent113
HP:0001231HP:0001231Abnormal fingernail morphology0HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6
HP:0001231HP:0001231Abnormal fingernail morphology0IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent93
HP:0001231HP:0001231Abnormal fingernail morphology0IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent11
HP:0001231HP:0001231Abnormal fingernail morphology0IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent4
HP:0001231HP:0001231Abnormal fingernail morphology0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutation9
HP:0001231HP:0001231Abnormal fingernail morphology0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040281 - Very frequent52
HP:0001231HP:0001231Abnormal fingernail morphology0IL11RA CL E G H35905967OMIM:614188Craniosynostosis and dental anomalies8
HP:0001231HP:0001231Abnormal fingernail morphology0IL17F CL E G H11274416404ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent14
HP:0001231HP:0001231Abnormal fingernail morphology0IL17RA CL E G H237655985ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent196
HP:0001231HP:0001231Abnormal fingernail morphology0IL17RC CL E G H8481818358ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent4
HP:0001231HP:0001231Abnormal fingernail morphology0INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasiaHP:0040282 - Frequent18
HP:0001231HP:0001231Abnormal fingernail morphology0ITGB4 CL E G H36916158OMIM:619816EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A124
HP:0001231HP:0001231Abnormal fingernail morphology0ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosa124
HP:0001231HP:0001231Abnormal fingernail morphology0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0001231HP:0001231Abnormal fingernail morphology0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndrome13
HP:0001231HP:0001231Abnormal fingernail morphology0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndrome13
HP:0001231HP:0001231Abnormal fingernail morphology0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndrome7
HP:0001231HP:0001231Abnormal fingernail morphology0KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndromeHP:0040282 - Frequent11
HP:0001231HP:0001231Abnormal fingernail morphology0KDF1 CL E G H12669526624ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040282 - Frequent1
HP:0001231HP:0001231Abnormal fingernail morphology0KIF1A CL E G H547888ORPHA:970Hereditary sensory and autonomic neuropathy type 2276
HP:0001231HP:0001231Abnormal fingernail morphology0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0001231HP:0001231Abnormal fingernail morphology0KRT1 CL E G H38486412ORPHA:2199Epidermolytic palmoplantar keratodermaHP:0040282 - Frequent100
HP:0001231HP:0001231Abnormal fingernail morphology0KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplexHP:0040282 - Frequent110
HP:0001231HP:0001231Abnormal fingernail morphology0KRT16 CL E G H38686423ORPHA:2199Epidermolytic palmoplantar keratodermaHP:0040282 - Frequent27
HP:0001231HP:0001231Abnormal fingernail morphology0KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenita27
HP:0001231HP:0001231Abnormal fingernail morphology0KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenita23
HP:0001231HP:0001231Abnormal fingernail morphology0KRT5 CL E G H38526442ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional173
HP:0001231HP:0001231Abnormal fingernail morphology0KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenita41
HP:0001231HP:0001231Abnormal fingernail morphology0KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenita4
HP:0001231HP:0001231Abnormal fingernail morphology0KRT74 CL E G H12139128929OMIM:614929Ectodermal dysplasia 7, Hair/nail type5
HP:0001231HP:0001231Abnormal fingernail morphology0KRT9 CL E G H38576447ORPHA:2199Epidermolytic palmoplantar keratodermaHP:0040282 - Frequent66
HP:0001231HP:0001231Abnormal fingernail morphology0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040283 - Occasional88
HP:0001231HP:0001231Abnormal fingernail morphology0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001231HP:0001231Abnormal fingernail morphology0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndrome645
HP:0001231HP:0001231Abnormal fingernail morphology0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0001231HP:0001231Abnormal fingernail morphology0LRP4 CL E G H40386696ORPHA:3152Sclerosteosis124
HP:0001231HP:0001231Abnormal fingernail morphology0MACROH2A1 CL E G H95554740ORPHA:1275Brachydactyly-elbow wrist dysplasia syndromeHP:0040281 - Very frequent
HP:0001231HP:0001231Abnormal fingernail morphology0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0001231HP:0001231Abnormal fingernail morphology0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0001231HP:0001231Abnormal fingernail morphology0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndrome22
HP:0001231HP:0001231Abnormal fingernail morphology0MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked22
HP:0001231HP:0001231Abnormal fingernail morphology0MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent22
HP:0001231HP:0001231Abnormal fingernail morphology0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001231HP:0001231Abnormal fingernail morphology0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001231HP:0001231Abnormal fingernail morphology0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0001231HP:0001231Abnormal fingernail morphology0MSX1 CL E G H44877391ORPHA:2228Hypodontia-dysplasia of nails syndromeHP:0040281 - Very frequent12
HP:0001231HP:0001231Abnormal fingernail morphology0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0001231HP:0001231Abnormal fingernail morphology0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0001231HP:0001231Abnormal fingernail morphology0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent27
HP:0001231HP:0001231Abnormal fingernail morphology0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent17
HP:0001231HP:0001231Abnormal fingernail morphology0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndrome452
HP:0001231HP:0001231Abnormal fingernail morphology0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040282 - Frequent138
HP:0001231HP:0001231Abnormal fingernail morphology0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent12
HP:0001231HP:0001231Abnormal fingernail morphology0NSD1 CL E G H6432414234ORPHA:3447Weaver syndromeHP:0040281 - Very frequent544
HP:0001231HP:0001231Abnormal fingernail morphology0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040283 - Occasional84
HP:0001231HP:0001231Abnormal fingernail morphology0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndrome2
HP:0001231HP:0001231Abnormal fingernail morphology0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent26
HP:0001231HP:0001231Abnormal fingernail morphology0PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040282 - Frequent66
HP:0001231HP:0001231Abnormal fingernail morphology0PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent
HP:0001231HP:0001231Abnormal fingernail morphology0PEX1 CL E G H51898850ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040281 - Very frequent169
HP:0001231HP:0001231Abnormal fingernail morphology0PEX6 CL E G H51908859ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040281 - Very frequent98
HP:0001231HP:0001231Abnormal fingernail morphology0PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001231HP:0001231Abnormal fingernail morphology0PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0001231HP:0001231Abnormal fingernail morphology0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0001231HP:0001231Abnormal fingernail morphology0PIGO CL E G H8472023215OMIM:614749Hyperphosphatasia with mental retardation syndrome 284
HP:0001231HP:0001231Abnormal fingernail morphology0PITX1 CL E G H53079004ORPHA:1275Brachydactyly-elbow wrist dysplasia syndromeHP:0040281 - Very frequent8
HP:0001231HP:0001231Abnormal fingernail morphology0PKP1 CL E G H53179023OMIM:604536ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME107
HP:0001231HP:0001231Abnormal fingernail morphology0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutation3
HP:0001231HP:0001231Abnormal fingernail morphology0PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6
HP:0001231HP:0001231Abnormal fingernail morphology0PLCD1 CL E G H53339060ORPHA:2387Leukonychia totalisHP:0040281 - Very frequent5
HP:0001231HP:0001231Abnormal fingernail morphology0PLEC CL E G H53399069ORPHA:257Epidermolysis bullosa simplex with muscular dystrophy759
HP:0001231HP:0001231Abnormal fingernail morphology0POFUT1 CL E G H2350914988ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional2
HP:0001231HP:0001231Abnormal fingernail morphology0POGLUT1 CL E G H5698322954ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional6
HP:0001231HP:0001231Abnormal fingernail morphology0PPP1CB CL E G H55009282ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040283 - Occasional9
HP:0001231HP:0001231Abnormal fingernail morphology0PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent2
HP:0001231HP:0001231Abnormal fingernail morphology0PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent2
HP:0001231HP:0001231Abnormal fingernail morphology0PSENEN CL E G H5585130100ORPHA:79145Dowling-Degos diseaseHP:0040283 - Occasional2
HP:0001231HP:0001231Abnormal fingernail morphology0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfism6
HP:0001231HP:0001231Abnormal fingernail morphology0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndrome3
HP:0001231HP:0001231Abnormal fingernail morphology0RBPJ CL E G H35165724OMIM:614814Adams-Oliver syndrome 33
HP:0001231HP:0001231Abnormal fingernail morphology0RETREG1 CL E G H5446325964ORPHA:970Hereditary sensory and autonomic neuropathy type 254
HP:0001231HP:0001231Abnormal fingernail morphology0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001231HP:0001231Abnormal fingernail morphology0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0001231HP:0001231Abnormal fingernail morphology0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndrome120
HP:0001231HP:0001231Abnormal fingernail morphology0ROR2 CL E G H492010257OMIM:113000Brachydactyly, type B1120
HP:0001231HP:0001231Abnormal fingernail morphology0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndrome65
HP:0001231HP:0001231Abnormal fingernail morphology0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent77
HP:0001231HP:0001231Abnormal fingernail morphology0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:0001231HP:0001231Abnormal fingernail morphology0SCN9A CL E G H633510597ORPHA:970Hereditary sensory and autonomic neuropathy type 2318
HP:0001231HP:0001231Abnormal fingernail morphology0SF3B1 CL E G H2345110768ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040283 - Occasional19
HP:0001231HP:0001231Abnormal fingernail morphology0SHOC2 CL E G H803615454ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040283 - Occasional74
HP:0001231HP:0001231Abnormal fingernail morphology0SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosis66
HP:0001231HP:0001231Abnormal fingernail morphology0SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasiaHP:0040282 - Frequent9
HP:0001231HP:0001231Abnormal fingernail morphology0SLC39A4 CL E G H5563017129ORPHA:37Acrodermatitis enteropathica55
HP:0001231HP:0001231Abnormal fingernail morphology0SLCO2A1 CL E G H657810955ORPHA:2796PachydermoperiostosisHP:0040282 - Frequent13
HP:0001231HP:0001231Abnormal fingernail morphology0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndrome617
HP:0001231HP:0001231Abnormal fingernail morphology0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndrome87
HP:0001231HP:0001231Abnormal fingernail morphology0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndrome1
HP:0001231HP:0001231Abnormal fingernail morphology0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndrome
HP:0001231HP:0001231Abnormal fingernail morphology0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndrome47
HP:0001231HP:0001231Abnormal fingernail morphology0SOST CL E G H5096413771ORPHA:3152Sclerosteosis26
HP:0001231HP:0001231Abnormal fingernail morphology0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndrome14
HP:0001231HP:0001231Abnormal fingernail morphology0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 2714
HP:0001231HP:0001231Abnormal fingernail morphology0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndrome
HP:0001231HP:0001231Abnormal fingernail morphology0STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndrome110
HP:0001231HP:0001231Abnormal fingernail morphology0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001231HP:0001231Abnormal fingernail morphology0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndromeHP:0040281 - Very frequent1
HP:0001231HP:0001231Abnormal fingernail morphology0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0001231HP:0001231Abnormal fingernail morphology0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040281 - Very frequent271
HP:0001231HP:0001231Abnormal fingernail morphology0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0001231HP:0001231Abnormal fingernail morphology0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001231HP:0001231Abnormal fingernail morphology0TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndromeHP:0040281 - Very frequent100
HP:0001231HP:0001231Abnormal fingernail morphology0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent48
HP:0001231HP:0001231Abnormal fingernail morphology0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent238
HP:0001231HP:0001231Abnormal fingernail morphology0TET2 CL E G H5479025941ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040283 - Occasional3
HP:0001231HP:0001231Abnormal fingernail morphology0TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndrome12
HP:0001231HP:0001231Abnormal fingernail morphology0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0001231HP:0001231Abnormal fingernail morphology0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent60
HP:0001231HP:0001231Abnormal fingernail morphology0TINF2 CL E G H2627711824OMIM:268130Revesz syndrome60
HP:0001231HP:0001231Abnormal fingernail morphology0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001231HP:0001231Abnormal fingernail morphology0TP63 CL E G H862615979ORPHA:978ADULT syndrome140
HP:0001231HP:0001231Abnormal fingernail morphology0TRAF3IP2 CL E G H107581343ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent4
HP:0001231HP:0001231Abnormal fingernail morphology0TRAF6 CL E G H718912036ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040282 - Frequent
HP:0001231HP:0001231Abnormal fingernail morphology0TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent151
HP:0001231HP:0001231Abnormal fingernail morphology0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0001231HP:0001231Abnormal fingernail morphology0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent1
HP:0001231HP:0001231Abnormal fingernail morphology0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent8
HP:0001231HP:0001231Abnormal fingernail morphology0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001231HP:0001231Abnormal fingernail morphology0WASHC5 CL E G H989728984ORPHA:73C syndrome83
HP:0001231HP:0001231Abnormal fingernail morphology0WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent95
HP:0001231HP:0001231Abnormal fingernail morphology0WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent136
HP:0001231HP:0001231Abnormal fingernail morphology0WNK1 CL E G H6512514540ORPHA:970Hereditary sensory and autonomic neuropathy type 2199
HP:0001231HP:0001231Abnormal fingernail morphology0WNT10A CL E G H8032613829ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent71
HP:0001231HP:0001231Abnormal fingernail morphology0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0001231HP:0001231Abnormal fingernail morphology0WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0001231HP:0001231Abnormal fingernail morphology0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0001231HP:0001231Abnormal fingernail morphology0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent40
HP:0001231HP:0001231Abnormal fingernail morphology0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0001231HP:0001231Abnormal fingernail morphology0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndrome83
HP:0001231HP:0001231Abnormal fingernail morphology0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0001231HP:0033976Volar fingernail1 CL E G H
HP:0001231HP:0001804Hypoplastic fingernail1ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional147
HP:0001231HP:0001804Hypoplastic fingernail1ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0001231HP:0001804Hypoplastic fingernail1ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0001231HP:0001804Hypoplastic fingernail1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0001231HP:0001804Hypoplastic fingernail1ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0001231HP:0001804Hypoplastic fingernail1ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent5
HP:0001231HP:0001804Hypoplastic fingernail1BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0001231HP:0008391Dystrophic fingernails1BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0001231HP:0008391Dystrophic fingernails1CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001231HP:0001804Hypoplastic fingernail1CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040283 - Occasional33
HP:0001231HP:0001804Hypoplastic fingernail1CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional114
HP:0001231HP:0001804Hypoplastic fingernail1CENPT CL E G H8015225787OMIM:618702SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001231HP:0001804Hypoplastic fingernail1COL11A1 CL E G H13012186ORPHA:2021FibrochondrogenesisHP:0040282 - Frequent215
HP:0001231HP:0001804Hypoplastic fingernail1COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0001231HP:0001804Hypoplastic fingernail1COL11A2 CL E G H13022187ORPHA:2021FibrochondrogenesisHP:0040282 - Frequent222
HP:0001231HP:0008391Dystrophic fingernails1COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0001231HP:0008391Dystrophic fingernails1COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040283 - Occasional129
HP:0001231HP:0008391Dystrophic fingernails1COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosaHP:0040283 - Occasional263
HP:0001231HP:0008391Dystrophic fingernails1COL7A1 CL E G H12942214ORPHA:158673Localized dystrophic epidermolysis bullosa, acral formHP:0040282 - Frequent263
HP:0001231HP:0008391Dystrophic fingernails1COL7A1 CL E G H12942214ORPHA:158676Localized dystrophic epidermolysis bullosa, nails onlyHP:0040282 - Frequent263
HP:0001231HP:0001804Hypoplastic fingernail1DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional9
HP:0001231HP:0001804Hypoplastic fingernail1DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional18
HP:0001231HP:0001804Hypoplastic fingernail1DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0001231HP:0100798Fingernail dysplasia1DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional14
HP:0001231HP:0008402Ridged fingernail1DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional14
HP:0001231HP:0100798Fingernail dysplasia1DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional5
HP:0001231HP:0008402Ridged fingernail1DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional5
HP:0001231HP:0008402Ridged fingernail1EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040281 - Very frequent27
HP:0001231HP:0001804Hypoplastic fingernail1EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional4
HP:0001231HP:0008391Dystrophic fingernails1ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0001231HP:0008391Dystrophic fingernails1ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0001231HP:0001804Hypoplastic fingernail1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001231HP:0001804Hypoplastic fingernail1FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0001231HP:0008402Ridged fingernail1FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional
HP:0001231HP:0100798Fingernail dysplasia1FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional
HP:0001231HP:0008391Dystrophic fingernails1GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0001231HP:0008391Dystrophic fingernails1GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001231HP:0008391Dystrophic fingernails1HLA-B CL E G H31064932ORPHA:29207Reactive arthritisHP:0040281 - Very frequent4
HP:0001231HP:0001804Hypoplastic fingernail1HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional2
HP:0001231HP:0008391Dystrophic fingernails1HPGD CL E G H32485154ORPHA:217059Isolated congenital digital clubbing55
HP:0001231HP:0001804Hypoplastic fingernail1HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0001231HP:0001804Hypoplastic fingernail1IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional9
HP:0001231HP:0001804Hypoplastic fingernail1IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040281 - Very frequent52
HP:0001231HP:0008402Ridged fingernail1IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040283 - Occasional52
HP:0001231HP:0100798Fingernail dysplasia1IL11RA CL E G H35905967OMIM:614188Craniosynostosis and dental anomaliesHP:0040283 - Occasional8
HP:0001231HP:0040039Onycholysis of fingernails1ITGB4 CL E G H36916158OMIM:619816EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A124
HP:0001231HP:0008391Dystrophic fingernails1ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040283 - Occasional124
HP:0001231HP:0001804Hypoplastic fingernail1KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040283 - Occasional13
HP:0001231HP:0001804Hypoplastic fingernail1KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0001231HP:0001804Hypoplastic fingernail1KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent13
HP:0001231HP:0001804Hypoplastic fingernail1KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent7
HP:0001231HP:0008391Dystrophic fingernails1KIF1A CL E G H547888ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent276
HP:0001231HP:0008391Dystrophic fingernails1KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0001231HP:0100798Fingernail dysplasia1KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent27
HP:0001231HP:0100798Fingernail dysplasia1KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent23
HP:0001231HP:0100798Fingernail dysplasia1KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent41
HP:0001231HP:0100798Fingernail dysplasia1KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent4
HP:0001231HP:0008391Dystrophic fingernails1KRT74 CL E G H12139128929OMIM:614929Ectodermal dysplasia 7, Hair/nail type.5
HP:0001231HP:0008391Dystrophic fingernails1LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent645
HP:0001231HP:0100798Fingernail dysplasia1LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040282 - Frequent165
HP:0001231HP:0100798Fingernail dysplasia1LRP4 CL E G H40386696ORPHA:3152SclerosteosisHP:0040281 - Very frequent124
HP:0001231HP:0008391Dystrophic fingernails1MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0001231HP:0008391Dystrophic fingernails1MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0001231HP:0001804Hypoplastic fingernail1MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040282 - Frequent22
HP:0001231HP:0012742Thin fingernail1MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040282 - Frequent22
HP:0001231HP:0008391Dystrophic fingernails1MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked.22
HP:0001231HP:0008391Dystrophic fingernails1MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0001231HP:0008402Ridged fingernail1MSX1 CL E G H44877391ORPHA:2228Hypodontia-dysplasia of nails syndromeHP:0040281 - Very frequent12
HP:0001231HP:0001804Hypoplastic fingernail1MSX1 CL E G H44877391ORPHA:2228Hypodontia-dysplasia of nails syndromeHP:0040281 - Very frequent12
HP:0001231HP:0008391Dystrophic fingernails1NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040282 - Frequent4
HP:0001231HP:0001804Hypoplastic fingernail1NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional452
HP:0001231HP:0100798Fingernail dysplasia1NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent2
HP:0001231HP:0001804Hypoplastic fingernail1PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001231HP:0001804Hypoplastic fingernail1PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040281 - Very frequent37
HP:0001231HP:0001804Hypoplastic fingernail1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0001231HP:0001804Hypoplastic fingernail1PIGO CL E G H8472023215OMIM:614749Hyperphosphatasia with mental retardation syndrome 284
HP:0001231HP:0008391Dystrophic fingernails1PKP1 CL E G H53179023OMIM:604536ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME107
HP:0001231HP:0001804Hypoplastic fingernail1PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional3
HP:0001231HP:0001804Hypoplastic fingernail1PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0001231HP:0001804Hypoplastic fingernail1PLEC CL E G H53399069ORPHA:257Epidermolysis bullosa simplex with muscular dystrophyHP:0040281 - Very frequent759
HP:0001231HP:0001804Hypoplastic fingernail1PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040283 - Occasional6
HP:0001231HP:0001804Hypoplastic fingernail1RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional3
HP:0001231HP:0001804Hypoplastic fingernail1RBPJ CL E G H35165724OMIM:614814Adams-Oliver syndrome 33
HP:0001231HP:0008391Dystrophic fingernails1RETREG1 CL E G H5446325964ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent54
HP:0001231HP:0008391Dystrophic fingernails1RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001231HP:0100798Fingernail dysplasia1ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent120
HP:0001231HP:0001804Hypoplastic fingernail1ROR2 CL E G H492010257OMIM:113000Brachydactyly, type B1120
HP:0001231HP:0001804Hypoplastic fingernail1RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040282 - Frequent65
HP:0001231HP:0008391Dystrophic fingernails1RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040283 - Occasional90
HP:0001231HP:0008391Dystrophic fingernails1SCN9A CL E G H633510597ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent318
HP:0001231HP:0001804Hypoplastic fingernail1SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosisHP:0040281 - Very frequent66
HP:0001231HP:0008402Ridged fingernail1SLC39A4 CL E G H5563017129ORPHA:37Acrodermatitis enteropathicaHP:0040282 - Frequent55
HP:0001231HP:0001804Hypoplastic fingernail1SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndrome617
HP:0001231HP:0001804Hypoplastic fingernail1SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndrome87
HP:0001231HP:0001804Hypoplastic fingernail1SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndrome1
HP:0001231HP:0001804Hypoplastic fingernail1SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndrome
HP:0001231HP:0001804Hypoplastic fingernail1SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndrome47
HP:0001231HP:0100798Fingernail dysplasia1SOST CL E G H5096413771ORPHA:3152SclerosteosisHP:0040281 - Very frequent26
HP:0001231HP:0001804Hypoplastic fingernail1SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndrome14
HP:0001231HP:0001804Hypoplastic fingernail1SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 2714
HP:0001231HP:0001804Hypoplastic fingernail1SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndrome
HP:0001231HP:0008391Dystrophic fingernails1STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndromeHP:0040282 - Frequent110
HP:0001231HP:0008391Dystrophic fingernails1TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001231HP:0001804Hypoplastic fingernail1TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0001231HP:0100798Fingernail dysplasia1TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndromeHP:0040282 - Frequent12
HP:0001231HP:0001804Hypoplastic fingernail1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0001231HP:0008402Ridged fingernail1TINF2 CL E G H2627711824OMIM:268130Revesz syndrome.60
HP:0001231HP:0100798Fingernail dysplasia1TP63 CL E G H862615979ORPHA:978ADULT syndromeHP:0040281 - Very frequent140
HP:0001231HP:0001804Hypoplastic fingernail1TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0001231HP:0001804Hypoplastic fingernail1WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040283 - Occasional83
HP:0001231HP:0008391Dystrophic fingernails1WNK1 CL E G H6512514540ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent199
HP:0001231HP:0008391Dystrophic fingernails1WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia.71
HP:0001231HP:0008391Dystrophic fingernails1WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0001231HP:0100798Fingernail dysplasia1WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional98
HP:0001231HP:0008402Ridged fingernail1WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional98
HP:0001231HP:0008391Dystrophic fingernails1ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome.17
HP:0001231HP:0008391Dystrophic fingernails1ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent83
HP:0001231HP:0001804Hypoplastic fingernail1ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0001231HP:0008398Hypoplastic fifth fingernail2ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0001231HP:0008398Hypoplastic fifth fingernail2ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0001231HP:0008398Hypoplastic fifth fingernail2ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0001231HP:0008398Hypoplastic fifth fingernail2ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0001231HP:0008398Hypoplastic fifth fingernail2DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0001231HP:0008400Onycholysis of distal fingernails2ITGB4 CL E G H36916158OMIM:619816EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A124
HP:0001231HP:0012553Hypoplastic thumbnail2KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome.13
HP:0001231HP:0012553Hypoplastic thumbnail2KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040283 - Occasional13
HP:0001231HP:0008398Hypoplastic fifth fingernail2PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001231HP:0012553Hypoplastic thumbnail2PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001231HP:0008398Hypoplastic fifth fingernail2RBPJ CL E G H35165724OMIM:614814Adams-Oliver syndrome 33
HP:0001231HP:0008398Hypoplastic fifth fingernail2SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0001231HP:0008398Hypoplastic fifth fingernail2SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0001231HP:0008398Hypoplastic fifth fingernail2SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0001231HP:0008398Hypoplastic fifth fingernail2SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0001231HP:0008398Hypoplastic fifth fingernail2SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0001231HP:0008398Hypoplastic fifth fingernail2SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0001231HP:0008398Hypoplastic fifth fingernail2SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 2714
HP:0001231HP:0008398Hypoplastic fifth fingernail2SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent


Genes (191) :AFF4 AIP AIRE ARHGAP31 ARID1A ARID1B ARID2 ATP6V1B2 BAZ1B BCL7B BMPER BMPR1B BRAF BUD23 CARS1 CASR CCDC22 CDKN1C CENPT CLEC7A CLIP2 COL11A1 COL11A2 COL17A1 COL7A1 CSTB CTC1 CTSC DKC1 DLL4 DNAJC30 DOCK6 DPF2 DVL1 DVL3 DYNC2LI1 EDAR EDARADD EED EFNB1 EIF4H ELN EOGT ERCC2 ERCC3 EVC EVC2 EZH2 FBXO28 FGFR2 FKBP6 FZD2 GDF5 GJA1 GLI1 GNA11 GPR101 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HLA-B HMGA2 HPGD HRAS HYMAI IFT122 IFT43 IFT52 IGF2 IKBKG IL11RA IL17F IL17RA IL17RC INPPL1 ITGB4 KCNH1 KCNN3 KCTD1 KDF1 KIF1A KRAS KRT1 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B KRT74 KRT9 LIG4 LIMK1 LMNA LMX1B LRP4 MACROH2A1 MAP2K1 MAP2K2 MBTPS2 METTL27 MLXIPL MPLKIP MSX1 NCF1 NECTIN1 NHP2 NOP10 NOTCH1 NOTCH2 NPM1 NSD1 NSUN2 NXN PARN PEPD PERP PEX1 PEX6 PIGF PIGN PIGO PITX1 PKP1 PLAG1 PLAGL1 PLCD1 PLEC POFUT1 POGLUT1 PPP1CB PRKACA PRKACB PSENEN PTDSS1 RBPJ RETREG1 RFC2 RNF113A ROR2 RPS6KA3 RTEL1 RUNX2 SCN9A SF3B1 SHOC2 SHOX SLC35D1 SLC39A4 SLCO2A1 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOST SOX11 SOX4 STAT3 STX1A SUZ12 TARS1 TBC1D24 TBL2 TBX3 TERC TERT TET2 TFAP2A TINF2 TMEM270 TP63 TRAF3IP2 TRAF6 TRPV3 TWIST2 TYMS USB1 VPS37D WASHC5 WDR19 WDR35 WNK1 WNT10A WNT5A WRAP53 ZBTB20 ZMPSTE24 ZNF462

Diseases (100) :ORPHA:444077 ORPHA:963 ORPHA:3453 ORPHA:974 ORPHA:1465 OMIM:135900 ORPHA:79500 ORPHA:3473 ORPHA:904 OMIM:608022 ORPHA:93384 ORPHA:1340 ORPHA:33364 ORPHA:428 ORPHA:7 ORPHA:397590 OMIM:618702 ORPHA:1334 ORPHA:2021 OMIM:228520 OMIM:619787 ORPHA:251393 ORPHA:231568 ORPHA:158673 ORPHA:158676 ORPHA:79410 ORPHA:248 ORPHA:1775 ORPHA:678 ORPHA:3107 ORPHA:289 ORPHA:1810 ORPHA:3447 ORPHA:1520 ORPHA:952 OMIM:619777 OMIM:123790 ORPHA:2710 ORPHA:29207 ORPHA:217059 ORPHA:2796 ORPHA:3071 ORPHA:96191 ORPHA:1515 ORPHA:464 OMIM:614188 ORPHA:3144 OMIM:619816 OMIM:611816 ORPHA:420561 ORPHA:2036 ORPHA:970 ORPHA:2199 ORPHA:89838 ORPHA:2309 ORPHA:79145 OMIM:614929 ORPHA:235 ORPHA:740 ORPHA:2614 ORPHA:3152 ORPHA:1275 ORPHA:2273 OMIM:308800 ORPHA:659 ORPHA:2228 ORPHA:3253 ORPHA:955 ORPHA:1507 ORPHA:742 ORPHA:3220 OMIM:619356 ORPHA:2059 ORPHA:280633 OMIM:614749 OMIM:604536 ORPHA:2387 ORPHA:257 ORPHA:2701 ORPHA:2658 OMIM:614814 OMIM:113000 ORPHA:192 ORPHA:1452 ORPHA:75564 ORPHA:240 ORPHA:37 OMIM:615866 ORPHA:2314 OMIM:220500 ORPHA:3138 ORPHA:1297 OMIM:113620 OMIM:268130 ORPHA:978 OMIM:200110 OMIM:257980 OMIM:150400 OMIM:259050 OMIM:618619
 

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