Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nail (HP:0001597)help
Parent Node:
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Abnormal toenail morphology (HP:0008388)help
Parent Node:
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Aplasia/Hypoplasia of the nails (HP:0008386)help
..Starting node
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Aplastic/hypoplastic toenail (HP:0010624)help
Term ID: 10624
Name: Aplastic/hypoplastic toenail
Synonym: Absent/small toenails; Absent/underdeveloped toenails; Aplastic/hypoplastic toenails; Hypoplastic-absent toenails
Definition: Absence or underdevelopment of the toenail.
Comments:
Reference: HP:0010624
Genes and Diseases:
 
       Child Nodes:
........expandHypoplastic toenails (HP:0001800) help
................... HP:0011937 Hypoplastic fifth toenail
........expandAbsent toenail (HP:0001802) help
................... HP:0012555 Absent nail of hallux
................... HP:0200105 Absent fifth toenail

 Sister Nodes: 
..expandAnonychia (HP:0001798) help
..expandShort nail (HP:0001799) help
..expandSmall nail (HP:0001792) 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:0010624HP:0010624Aplastic/hypoplastic toenail0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0010624HP:0010624Aplastic/hypoplastic toenail0APC CL E G H324583ORPHA:3258Cenani-Lenz syndrome3179
HP:0010624HP:0010624Aplastic/hypoplastic toenail0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional147
HP:0010624HP:0010624Aplastic/hypoplastic toenail0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0010624HP:0010624Aplastic/hypoplastic toenail0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0010624HP:0010624Aplastic/hypoplastic toenail0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0010624HP:0010624Aplastic/hypoplastic toenail0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0010624HP:0010624Aplastic/hypoplastic toenail0ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndrome5
HP:0010624HP:0010624Aplastic/hypoplastic toenail0ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant5
HP:0010624HP:0010624Aplastic/hypoplastic toenail0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0010624HP:0010624Aplastic/hypoplastic toenail0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0010624HP:0010624Aplastic/hypoplastic toenail0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0010624HP:0010624Aplastic/hypoplastic toenail0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0010624HP:0010624Aplastic/hypoplastic toenail0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040282 - Frequent7
HP:0010624HP:0010624Aplastic/hypoplastic toenail0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0010624HP:0010624Aplastic/hypoplastic toenail0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0010624HP:0010624Aplastic/hypoplastic toenail0COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosa263
HP:0010624HP:0010624Aplastic/hypoplastic toenail0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form263
HP:0010624HP:0010624Aplastic/hypoplastic toenail0COL7A1 CL E G H12942214ORPHA:158676Localized dystrophic epidermolysis bullosa, nails only263
HP:0010624HP:0010624Aplastic/hypoplastic toenail0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0010624HP:0010624Aplastic/hypoplastic toenail0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0010624HP:0010624Aplastic/hypoplastic toenail0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent160
HP:0010624HP:0010624Aplastic/hypoplastic toenail0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent65
HP:0010624HP:0010624Aplastic/hypoplastic toenail0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional9
HP:0010624HP:0010624Aplastic/hypoplastic toenail0DLL4 CL E G H545672910OMIM:616589Adams-Oliver syndrome 69
HP:0010624HP:0010624Aplastic/hypoplastic toenail0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0010624HP:0010624Aplastic/hypoplastic toenail0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional18
HP:0010624HP:0010624Aplastic/hypoplastic toenail0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0010624HP:0010624Aplastic/hypoplastic toenail0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0010624HP:0010624Aplastic/hypoplastic toenail0DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome3
HP:0010624HP:0010624Aplastic/hypoplastic toenail0DPH1 CL E G H18013003OMIM:616901Developmental delay with short stature, dysmorphic features, and sparse hair3
HP:0010624HP:0010624Aplastic/hypoplastic toenail0DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorder747
HP:0010624HP:0010624Aplastic/hypoplastic toenail0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndrome7
HP:0010624HP:0010624Aplastic/hypoplastic toenail0EED CL E G H87263188ORPHA:3447Weaver syndrome4
HP:0010624HP:0010624Aplastic/hypoplastic toenail0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0010624HP:0010624Aplastic/hypoplastic toenail0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0010624HP:0010624Aplastic/hypoplastic toenail0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0010624HP:0010624Aplastic/hypoplastic toenail0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional4
HP:0010624HP:0010624Aplastic/hypoplastic toenail0EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0010624HP:0010624Aplastic/hypoplastic toenail0EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers type209
HP:0010624HP:0010624Aplastic/hypoplastic toenail0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndrome209
HP:0010624HP:0010624Aplastic/hypoplastic toenail0EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers type137
HP:0010624HP:0010624Aplastic/hypoplastic toenail0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndrome137
HP:0010624HP:0010624Aplastic/hypoplastic toenail0EZH2 CL E G H21463527ORPHA:3447Weaver syndrome81
HP:0010624HP:0010624Aplastic/hypoplastic toenail0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia172
HP:0010624HP:0010624Aplastic/hypoplastic toenail0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0010624HP:0010624Aplastic/hypoplastic toenail0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath70
HP:0010624HP:0010624Aplastic/hypoplastic toenail0GDF5 CL E G H82004220OMIM:228900Fibular hypoplasia and complex brachydactyly.52
HP:0010624HP:0010624Aplastic/hypoplastic toenail0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndrome1
HP:0010624HP:0010624Aplastic/hypoplastic toenail0GPC4 CL E G H22394452OMIM:301026Keipert syndrome
HP:0010624HP:0010624Aplastic/hypoplastic toenail0GPC4 CL E G H22394452ORPHA:2662Keipert syndromeHP:0040282 - Frequent
HP:0010624HP:0010624Aplastic/hypoplastic toenail0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0010624HP:0010624Aplastic/hypoplastic toenail0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0010624HP:0010624Aplastic/hypoplastic toenail0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0010624HP:0010624Aplastic/hypoplastic toenail0HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0010624HP:0010624Aplastic/hypoplastic toenail0HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:0010624HP:0010624Aplastic/hypoplastic toenail0INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasia18
HP:0010624HP:0010624Aplastic/hypoplastic toenail0JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorder222
HP:0010624HP:0010624Aplastic/hypoplastic toenail0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040282 - Frequent13
HP:0010624HP:0010624Aplastic/hypoplastic toenail0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0010624HP:0010624Aplastic/hypoplastic toenail0KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010624HP:0010624Aplastic/hypoplastic toenail0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0010624HP:0010624Aplastic/hypoplastic toenail0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0010624HP:0010624Aplastic/hypoplastic toenail0KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplex110
HP:0010624HP:0010624Aplastic/hypoplastic toenail0KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0010624HP:0010624Aplastic/hypoplastic toenail0LIG4 CL E G H39816601ORPHA:235Dubowitz syndrome88
HP:0010624HP:0010624Aplastic/hypoplastic toenail0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0010624HP:0010624Aplastic/hypoplastic toenail0LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndrome124
HP:0010624HP:0010624Aplastic/hypoplastic toenail0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0010624HP:0010624Aplastic/hypoplastic toenail0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0010624HP:0010624Aplastic/hypoplastic toenail0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0010624HP:0010624Aplastic/hypoplastic toenail0MSX1 CL E G H44877391ORPHA:2228Hypodontia-dysplasia of nails syndrome12
HP:0010624HP:0010624Aplastic/hypoplastic toenail0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0010624HP:0010624Aplastic/hypoplastic toenail0NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 17
HP:0010624HP:0010624Aplastic/hypoplastic toenail0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent27
HP:0010624HP:0010624Aplastic/hypoplastic toenail0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 1.22
HP:0010624HP:0010624Aplastic/hypoplastic toenail0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent17
HP:0010624HP:0010624Aplastic/hypoplastic toenail0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional452
HP:0010624HP:0010624Aplastic/hypoplastic toenail0NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5452
HP:0010624HP:0010624Aplastic/hypoplastic toenail0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent12
HP:0010624HP:0010624Aplastic/hypoplastic toenail0NSD1 CL E G H6432414234ORPHA:3447Weaver syndrome544
HP:0010624HP:0010624Aplastic/hypoplastic toenail0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndrome84
HP:0010624HP:0010624Aplastic/hypoplastic toenail0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0010624HP:0010624Aplastic/hypoplastic toenail0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent26
HP:0010624HP:0010624Aplastic/hypoplastic toenail0PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0010624HP:0010624Aplastic/hypoplastic toenail0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0010624HP:0010624Aplastic/hypoplastic toenail0PPP1CB CL E G H55009282ORPHA:2701Noonan syndrome-like disorder with loose anagen hair9
HP:0010624HP:0010624Aplastic/hypoplastic toenail0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome10
HP:0010624HP:0010624Aplastic/hypoplastic toenail0PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndrome2
HP:0010624HP:0010624Aplastic/hypoplastic toenail0PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndrome2
HP:0010624HP:0010624Aplastic/hypoplastic toenail0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional3
HP:0010624HP:0010624Aplastic/hypoplastic toenail0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0010624HP:0010624Aplastic/hypoplastic toenail0RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndrome69
HP:0010624HP:0010624Aplastic/hypoplastic toenail0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent77
HP:0010624HP:0010624Aplastic/hypoplastic toenail0SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0010624HP:0010624Aplastic/hypoplastic toenail0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0010624HP:0010624Aplastic/hypoplastic toenail0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0010624HP:0010624Aplastic/hypoplastic toenail0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0010624HP:0010624Aplastic/hypoplastic toenail0SHOC2 CL E G H803615454ORPHA:2701Noonan syndrome-like disorder with loose anagen hair74
HP:0010624HP:0010624Aplastic/hypoplastic toenail0SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosisHP:0040281 - Very frequent66
HP:0010624HP:0010624Aplastic/hypoplastic toenail0SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasia9
HP:0010624HP:0010624Aplastic/hypoplastic toenail0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0010624HP:0010624Aplastic/hypoplastic toenail0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndrome617
HP:0010624HP:0010624Aplastic/hypoplastic toenail0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndrome87
HP:0010624HP:0010624Aplastic/hypoplastic toenail0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndrome1
HP:0010624HP:0010624Aplastic/hypoplastic toenail0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndrome
HP:0010624HP:0010624Aplastic/hypoplastic toenail0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndrome47
HP:0010624HP:0010624Aplastic/hypoplastic toenail0SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0010624HP:0010624Aplastic/hypoplastic toenail0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndrome14
HP:0010624HP:0010624Aplastic/hypoplastic toenail0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 2714
HP:0010624HP:0010624Aplastic/hypoplastic toenail0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndrome
HP:0010624HP:0010624Aplastic/hypoplastic toenail0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0010624HP:0010624Aplastic/hypoplastic toenail0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndrome1
HP:0010624HP:0010624Aplastic/hypoplastic toenail0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0010624HP:0010624Aplastic/hypoplastic toenail0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0010624HP:0010624Aplastic/hypoplastic toenail0TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndrome100
HP:0010624HP:0010624Aplastic/hypoplastic toenail0TBX4 CL E G H949611603ORPHA:238578Familial clubfoot due to 17q23.1q23.2 microduplication55
HP:0010624HP:0010624Aplastic/hypoplastic toenail0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 431
HP:0010624HP:0010624Aplastic/hypoplastic toenail0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorder12
HP:0010624HP:0010624Aplastic/hypoplastic toenail0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent48
HP:0010624HP:0010624Aplastic/hypoplastic toenail0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent238
HP:0010624HP:0010624Aplastic/hypoplastic toenail0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent60
HP:0010624HP:0010624Aplastic/hypoplastic toenail0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0010624HP:0010624Aplastic/hypoplastic toenail0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent1
HP:0010624HP:0010624Aplastic/hypoplastic toenail0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent8
HP:0010624HP:0010624Aplastic/hypoplastic toenail0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0010624HP:0010624Aplastic/hypoplastic toenail0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0010624HP:0010624Aplastic/hypoplastic toenail0WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0010624HP:0010624Aplastic/hypoplastic toenail0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent40
HP:0010624HP:0010624Aplastic/hypoplastic toenail0ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39
HP:0010624HP:0010624Aplastic/hypoplastic toenail0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0010624HP:0001800Hypoplastic toenails1AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0010624HP:0001802Absent toenail1APC CL E G H324583ORPHA:3258Cenani-Lenz syndromeHP:0040282 - Frequent3179
HP:0010624HP:0001800Hypoplastic toenails1ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0010624HP:0001802Absent toenail1ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0010624HP:0001800Hypoplastic toenails1ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0010624HP:0001800Hypoplastic toenails1ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0010624HP:0001802Absent toenail1ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndromeHP:0040282 - Frequent5
HP:0010624HP:0001800Hypoplastic toenails1ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndromeHP:0040283 - Occasional5
HP:0010624HP:0001802Absent toenail1ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant5
HP:0010624HP:0001800Hypoplastic toenails1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010624HP:0001800Hypoplastic toenails1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010624HP:0001802Absent toenail1BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent5
HP:0010624HP:0001800Hypoplastic toenails1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010624HP:0001800Hypoplastic toenails1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010624HP:0001800Hypoplastic toenails1COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0010624HP:0001802Absent toenail1COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosaHP:0040283 - Occasional263
HP:0010624HP:0001802Absent toenail1COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040283 - Occasional263
HP:0010624HP:0001802Absent toenail1COL7A1 CL E G H12942214ORPHA:158676Localized dystrophic epidermolysis bullosa, nails onlyHP:0040283 - Occasional263
HP:0010624HP:0001800Hypoplastic toenails1CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0010624HP:0001802Absent toenail1CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0010624HP:0001800Hypoplastic toenails1DLL4 CL E G H545672910OMIM:616589Adams-Oliver syndrome 6HP:0040283 - Occasional9
HP:0010624HP:0001800Hypoplastic toenails1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010624HP:0001800Hypoplastic toenails1DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0010624HP:0001800Hypoplastic toenails1DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0010624HP:0001800Hypoplastic toenails1DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndromeHP:0040282 - Frequent3
HP:0010624HP:0001800Hypoplastic toenails1DPH1 CL E G H18013003OMIM:616901Developmental delay with short stature, dysmorphic features, and sparse hair.3
HP:0010624HP:0001802Absent toenail1DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorderHP:0040282 - Frequent747
HP:0010624HP:0001800Hypoplastic toenails1DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent7
HP:0010624HP:0001800Hypoplastic toenails1EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040281 - Very frequent4
HP:0010624HP:0001800Hypoplastic toenails1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010624HP:0001800Hypoplastic toenails1EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0010624HP:0001800Hypoplastic toenails1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0010624HP:0001800Hypoplastic toenails1EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 4.4
HP:0010624HP:0001800Hypoplastic toenails1EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent209
HP:0010624HP:0001800Hypoplastic toenails1EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent209
HP:0010624HP:0001800Hypoplastic toenails1EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent137
HP:0010624HP:0001800Hypoplastic toenails1EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent137
HP:0010624HP:0001800Hypoplastic toenails1EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040281 - Very frequent81
HP:0010624HP:0001800Hypoplastic toenails1FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0010624HP:0001800Hypoplastic toenails1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010624HP:0001800Hypoplastic toenails1FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath70
HP:0010624HP:0001800Hypoplastic toenails1GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent1
HP:0010624HP:0001802Absent toenail1GPC4 CL E G H22394452OMIM:301026Keipert syndromeHP:0040284 - Very rare
HP:0010624HP:0001800Hypoplastic toenails1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0010624HP:0001800Hypoplastic toenails1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0010624HP:0001800Hypoplastic toenails1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0010624HP:0001800Hypoplastic toenails1HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0010624HP:0001800Hypoplastic toenails1HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040282 - Frequent113
HP:0010624HP:0001800Hypoplastic toenails1INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasiaHP:0040282 - Frequent18
HP:0010624HP:0001802Absent toenail1JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorderHP:0040282 - Frequent222
HP:0010624HP:0001802Absent toenail1KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040283 - Occasional13
HP:0010624HP:0001802Absent toenail1KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0010624HP:0001802Absent toenail1KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0010624HP:0001800Hypoplastic toenails1KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0010624HP:0001800Hypoplastic toenails1KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0010624HP:0001802Absent toenail1KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplexHP:0040283 - Occasional110
HP:0010624HP:0001800Hypoplastic toenails1KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0010624HP:0001800Hypoplastic toenails1LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040283 - Occasional88
HP:0010624HP:0001800Hypoplastic toenails1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010624HP:0001802Absent toenail1LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndromeHP:0040282 - Frequent124
HP:0010624HP:0001802Absent toenail1MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0010624HP:0001800Hypoplastic toenails1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0010624HP:0001800Hypoplastic toenails1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0010624HP:0001800Hypoplastic toenails1MSX1 CL E G H44877391ORPHA:2228Hypodontia-dysplasia of nails syndromeHP:0040281 - Very frequent12
HP:0010624HP:0001800Hypoplastic toenails1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0010624HP:0001800Hypoplastic toenails1NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 1.7
HP:0010624HP:0001800Hypoplastic toenails1NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5452
HP:0010624HP:0001802Absent toenail1NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5452
HP:0010624HP:0001800Hypoplastic toenails1NSD1 CL E G H6432414234ORPHA:3447Weaver syndromeHP:0040281 - Very frequent544
HP:0010624HP:0001800Hypoplastic toenails1NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040283 - Occasional84
HP:0010624HP:0001800Hypoplastic toenails1ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0010624HP:0001800Hypoplastic toenails1PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0010624HP:0001802Absent toenail1PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0010624HP:0001802Absent toenail1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0010624HP:0001800Hypoplastic toenails1PPP1CB CL E G H55009282ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040283 - Occasional9
HP:0010624HP:0001800Hypoplastic toenails1PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome10
HP:0010624HP:0001800Hypoplastic toenails1PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent2
HP:0010624HP:0001800Hypoplastic toenails1PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent2
HP:0010624HP:0001800Hypoplastic toenails1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010624HP:0001800Hypoplastic toenails1RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndromeHP:0040281 - Very frequent69
HP:0010624HP:0001800Hypoplastic toenails1SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0010624HP:0001800Hypoplastic toenails1SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0010624HP:0001800Hypoplastic toenails1SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040281 - Very frequent53
HP:0010624HP:0001800Hypoplastic toenails1SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0010624HP:0001800Hypoplastic toenails1SHOC2 CL E G H803615454ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040283 - Occasional74
HP:0010624HP:0001800Hypoplastic toenails1SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasiaHP:0040282 - Frequent9
HP:0010624HP:0001800Hypoplastic toenails1SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndrome617
HP:0010624HP:0001800Hypoplastic toenails1SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndrome87
HP:0010624HP:0001800Hypoplastic toenails1SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndrome1
HP:0010624HP:0001800Hypoplastic toenails1SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndrome
HP:0010624HP:0001800Hypoplastic toenails1SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndrome47
HP:0010624HP:0001800Hypoplastic toenails1SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0010624HP:0001800Hypoplastic toenails1SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndrome14
HP:0010624HP:0001800Hypoplastic toenails1SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 2714
HP:0010624HP:0001800Hypoplastic toenails1SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndrome
HP:0010624HP:0001800Hypoplastic toenails1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010624HP:0001800Hypoplastic toenails1SUZ12 CL E G H2351217101ORPHA:3447Weaver syndromeHP:0040281 - Very frequent1
HP:0010624HP:0001800Hypoplastic toenails1TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0010624HP:0001800Hypoplastic toenails1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010624HP:0001800Hypoplastic toenails1TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndromeHP:0040283 - Occasional100
HP:0010624HP:0001800Hypoplastic toenails1TBX4 CL E G H949611603ORPHA:238578Familial clubfoot due to 17q23.1q23.2 microduplicationHP:0040283 - Occasional55
HP:0010624HP:0001800Hypoplastic toenails1TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040283 - Occasional31
HP:0010624HP:0001800Hypoplastic toenails1TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040283 - Occasional12
HP:0010624HP:0001800Hypoplastic toenails1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010624HP:0001800Hypoplastic toenails1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0010624HP:0001800Hypoplastic toenails1WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0010624HP:0001802Absent toenail1WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly.13
HP:0010624HP:0001800Hypoplastic toenails1ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39
HP:0010624HP:0001800Hypoplastic toenails1ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0010624HP:0011937Hypoplastic fifth toenail2ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0010624HP:0200105Absent fifth toenail2ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0010624HP:0011937Hypoplastic fifth toenail2ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0010624HP:0011937Hypoplastic fifth toenail2ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0010624HP:0011937Hypoplastic fifth toenail2DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0010624HP:0011937Hypoplastic fifth toenail2DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0010624HP:0011937Hypoplastic fifth toenail2HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndromeHP:0040282 - Frequent11
HP:0010624HP:0012555Absent nail of hallux2KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome.13
HP:0010624HP:0012555Absent nail of hallux2KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040283 - Occasional13
HP:0010624HP:0011937Hypoplastic fifth toenail2KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0010624HP:0200105Absent fifth toenail2PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0010624HP:0011937Hypoplastic fifth toenail2PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040284 - Very rare10
HP:0010624HP:0011937Hypoplastic fifth toenail2SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0010624HP:0011937Hypoplastic fifth toenail2SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0010624HP:0011937Hypoplastic fifth toenail2SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0010624HP:0011937Hypoplastic fifth toenail2SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0010624HP:0011937Hypoplastic fifth toenail2SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0010624HP:0011937Hypoplastic fifth toenail2SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0010624HP:0011937Hypoplastic fifth toenail2SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0010624HP:0011937Hypoplastic fifth toenail2SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 27.14
HP:0010624HP:0011937Hypoplastic fifth toenail2SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent


Genes (114) :AFF4 APC ARHGAP31 ARID1A ARID1B ARID2 ATP6V1B2 BAZ1B BCL7B BCR BUD23 CKAP2L CLIP2 COL11A1 COL7A1 CPT2 CRKL CTC1 DKC1 DLL4 DNAJC30 DOCK6 DPF2 DPH1 DSP DYNC2LI1 EED EIF4H EIF5A ELN EOGT EVC EVC2 EZH2 FGFR1 FKBP6 FTO GDF5 GLI1 GPC4 GTF2I GTF2IRD1 GTF2IRD2 HOXA13 HRAS INPPL1 JUP KCNH1 KCNN3 KDM1A KRT14 KRT5 LIG4 LIMK1 LRP4 MAPK1 METTL27 MLXIPL MSX1 NCF1 NECTIN4 NHP2 NOG NOP10 NOTCH1 NPM1 NSD1 NSUN2 ODC1 PARN PIGF PORCN PPP1CB PPP2R5D PRKACA PRKACB RBPJ RFC2 RIPK4 RTEL1 SCO2 SET SHANK3 SHOC2 SHOX SLC35D1 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 STX1A SUZ12 TBC1D24 TBL2 TBX3 TBX4 TCTN3 TELO2 TERC TERT TINF2 TMEM270 TYMS USB1 VPS37D WLS WNT7A WRAP53 ZIC3 ZMYM2

Diseases (69) :ORPHA:444077 ORPHA:3258 ORPHA:974 ORPHA:1465 OMIM:614607 ORPHA:79499 OMIM:124480 ORPHA:904 ORPHA:261330 ORPHA:3255 OMIM:228520 ORPHA:231568 ORPHA:89842 ORPHA:158676 OMIM:608836 ORPHA:1775 OMIM:616589 OMIM:618027 ORPHA:459061 OMIM:616901 ORPHA:158687 ORPHA:289 ORPHA:3447 OMIM:619376 OMIM:615297 ORPHA:952 OMIM:166250 OMIM:612938 OMIM:228900 OMIM:301026 ORPHA:2662 ORPHA:2438 ORPHA:3071 ORPHA:3144 ORPHA:420561 OMIM:611816 OMIM:618658 OMIM:616728 ORPHA:477993 ORPHA:89838 OMIM:131960 ORPHA:235 ORPHA:2228 OMIM:613573 OMIM:186500 OMIM:616028 ORPHA:544488 OMIM:619356 OMIM:305600 ORPHA:2701 ORPHA:457279 ORPHA:1234 OMIM:604377 OMIM:618106 ORPHA:48652 OMIM:606232 ORPHA:240 OMIM:619293 OMIM:616938 OMIM:615866 OMIM:220500 ORPHA:3138 ORPHA:238578 ORPHA:2753 ORPHA:488642 OMIM:619648 OMIM:228930 OMIM:306955 OMIM:619522
 

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