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
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Aplasia/Hypoplasia of the nails (HP:0008386)help
Term ID: 8386
Name: Aplasia/Hypoplasia of the nails
Synonym: Absent/hypoplastic nails; Absent/small nails; Absent/underdeveloped nails; Nail aplasia/hypoplasia
Definition: Aplasia or developmental hypoplasia of the nail.
Comments:
Reference: HP:0008386
Genes and Diseases:
 
       Child Nodes:
........expandSmall nail (HP:0001792) help
................... HP:0001800 Hypoplastic toenails
................... HP:0001804 Hypoplastic fingernail
........expandAnonychia (HP:0001798) help
................... HP:0001802 Absent toenail
................... HP:0001817 Absent fingernail
........expandShort nail (HP:0001799) help
........expandAplastic/hypoplastic toenail (HP:0010624) help
................... HP:0001800 Hypoplastic toenails
................... HP:0001802 Absent toenail

 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
..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:0008386HP:0008386Aplasia/Hypoplasia of the nails0ACTG2 CL E G H72145ORPHA:2604Familial visceral myopathy23
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects2
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ADAMTSL2 CL E G H971914631OMIM:231050Geleophysic dysplasia 172
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id37
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 275
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 263
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0APC CL E G H324583ORPHA:3258Cenani-Lenz syndrome3179
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndrome147
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1147
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathy166
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ATP2A2 CL E G H488812ORPHA:79151Acrokeratosis verruciformis of Hopf86
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome140
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndromeHP:0040282 - Frequent5
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant5
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndrome5
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 25
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0BHLHA9 CL E G H72785735126OMIM:607539Camptosynpolydactyly, complex4
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS78
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathy118
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0CCDC22 CL E G H2895228909ORPHA:73C syndrome33
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0CDH1 CL E G H9991748OMIM:119580Blepharocheilodontic syndrome 11003
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0CDIN1 CL E G H8452926929OMIM:615631Anemia, congenital dyserythropoietic, type Ib
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathy405
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutation114
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0CENPT CL E G H8015225787OMIM:618702SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndrome7
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0COL11A1 CL E G H13012186ORPHA:2021Fibrochondrogenesis215
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0COL11A2 CL E G H13022187ORPHA:2021Fibrochondrogenesis222
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosa129
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0COL17A1 CL E G H13082194ORPHA:79406Late-onset junctional epidermolysis bullosa129
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosa263
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form263
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form263
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0COL7A1 CL E G H12942214ORPHA:158676Localized dystrophic epidermolysis bullosa, nails only263
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial form263
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0COL7A1 CL E G H12942214ORPHA:79409Recessive dystrophic epidermolysis bullosa inversa263
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0COL7A1 CL E G H12942214ORPHA:79411Self-improving dystrophic epidermolysis bullosa263
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndrome4
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0DHX37 CL E G H5764717210OMIM:618731NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC2
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndrome9
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0DLL4 CL E G H545672910OMIM:616589Adams-Oliver syndrome 69
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathy3
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 35
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndrome18
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 218
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome3
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0DPH1 CL E G H18013003OMIM:616901Developmental delay with short stature, dysmorphic features, and sparse hair3
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiency144
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0DSP CL E G H18323052OMIM:609638EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA747
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorder747
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndrome7
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome4
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0EED CL E G H87263188ORPHA:3447Weaver syndrome4
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndrome4
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers type209
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndrome209
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis209
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers type137
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndrome137
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis137
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0EZH2 CL E G H21463527ORPHA:3447Weaver syndrome81
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia172
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0FLNB CL E G H23173755OMIM:150250Larsen syndrome233
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0FLNB CL E G H23173755ORPHA:503Larsen syndrome233
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome353
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath70
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0GDF5 CL E G H82004220OMIM:228900Fibular hypoplasia and complex brachydactyly52
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0GJB6 CL E G H108044288OMIM:129500Clouston syndrome56
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndrome1
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathy36
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0GPC4 CL E G H22394452ORPHA:2662Keipert syndrome
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0GPC4 CL E G H22394452OMIM:301026Keipert syndrome
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0GRHL2 CL E G H799772799OMIM:616029Ectodermal dysplasia/short stature syndrome33
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathy108
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathy5
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutation2
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0IFT43 CL E G H11275229669OMIM:614099Cranioectodermal dysplasia 311
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutation9
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0IHH CL E G H35495956ORPHA:63446Acrocapitofemoral dysplasia44
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmenti52
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasia18
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia124
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosa124
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorder222
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathy145
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndrome13
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndrome13
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 113
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndrome7
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplex110
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosa116
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosa116
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosa167
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosa167
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosa135
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosa135
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0LIG4 CL E G H39816601ORPHA:235Dubowitz syndrome88
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0LMNA CL E G H40006636ORPHA:1662Restrictive dermopathy645
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome124
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndrome124
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndrome22
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15q3
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form6
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive9
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0MSX1 CL E G H44877391ORPHA:2228Hypodontia-dysplasia of nails syndrome12
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0MSX1 CL E G H44877391OMIM:189500Witkop syndrome12
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 17
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathy
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 127
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NOG CL E G H92417866ORPHA:140908Brachydactyly type B222
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 117
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndrome452
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5452
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome138
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type53
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NSD1 CL E G H6432414234ORPHA:3447Weaver syndrome544
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndrome84
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2201
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndrome8
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndrome20
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndrome36
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PIGO CL E G H8472023215OMIM:614749Hyperphosphatasia with mental retardation syndrome 284
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndrome84
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathy2
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathy3
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation57
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndrome57
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndrome6
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndrome2
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutation3
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PLEC CL E G H53399069ORPHA:257Epidermolysis bullosa simplex with muscular dystrophy759
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia759
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathy244
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 26
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold22
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PPP1CB CL E G H55009282ORPHA:2701Noonan syndrome-like disorder with loose anagen hair9
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome10
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndrome2
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndrome2
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfism6
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0RBBP8 CL E G H59329891OMIM:251255Jawad syndrome68
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndrome3
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0RBPJ CL E G H35165724OMIM:614814Adams-Oliver syndrome 33
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndrome69
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome7
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ROR2 CL E G H492010257OMIM:113000Brachydactyly, type B1120
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndrome65
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal3
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0RSPO4 CL E G H34363716175OMIM:206800Anonychia congenita8
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathy126
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathy427
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SETD2 CL E G H2907218420ORPHA:821Sotos syndrome60
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SHOC2 CL E G H803615454ORPHA:2701Noonan syndrome-like disorder with loose anagen hair74
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosis66
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathy11
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathy166
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasia9
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndrome617
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SMARCAD1 CL E G H5691618398OMIM:181600Huriez syndrome6
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SMARCAD1 CL E G H5691618398ORPHA:384Huriez syndrome6
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndrome87
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndrome1
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndrome
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndrome47
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndrome14
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 2714
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndrome
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome24
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndrome1
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndrome100
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0TBX4 CL E G H949611603ORPHA:238578Familial clubfoot due to 17q23.1q23.2 microduplication55
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 431
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorder12
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate140
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathy1
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0TSPAN7 CL E G H710211854OMIM:300210MENTAL RETARDATION, X-LINKED 58; MRX5826
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0WASHC5 CL E G H989728984ORPHA:73C syndrome83
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 114
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0WNT10A CL E G H8032613829OMIM:224750Schopf-Schulz-Passarge syndrome71
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndrome17
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathy83
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal83
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0008386HP:0008386Aplasia/Hypoplasia of the nails0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0008386HP:0001798Anonychia1ACTG2 CL E G H72145ORPHA:2604Familial visceral myopathyHP:0040283 - Occasional23
HP:0008386HP:0001792Small nail1ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects.2
HP:0008386HP:0001792Small nail1ADAMTSL2 CL E G H971914631OMIM:231050Geleophysic dysplasia 1.72
HP:0008386HP:0001792Small nail1AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0008386HP:0010624Aplastic/hypoplastic toenail1AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0008386HP:0001792Small nail1ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0008386HP:0001792Small nail1ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0008386HP:0001792Small nail1ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 2HP:0040283 - Occasional75
HP:0008386HP:0001792Small nail1ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 2HP:0040283 - Occasional63
HP:0008386HP:0010624Aplastic/hypoplastic toenail1APC CL E G H324583ORPHA:3258Cenani-Lenz syndrome3179
HP:0008386HP:0001798Anonychia1APC CL E G H324583ORPHA:3258Cenani-Lenz syndrome3179
HP:0008386HP:0001792Small nail1APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0008386HP:0010624Aplastic/hypoplastic toenail1ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional147
HP:0008386HP:0001792Small nail1ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndrome147
HP:0008386HP:0001798Anonychia1ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndrome147
HP:0008386HP:0001792Small nail1ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1.147
HP:0008386HP:0001792Small nail1ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent88
HP:0008386HP:0010624Aplastic/hypoplastic toenail1ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0008386HP:0001792Small nail1ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 2.88
HP:0008386HP:0010624Aplastic/hypoplastic toenail1ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0008386HP:0001798Anonychia1ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0008386HP:0010624Aplastic/hypoplastic toenail1ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0008386HP:0001792Small nail1ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent219
HP:0008386HP:0001798Anonychia1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0008386HP:0001792Small nail1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0008386HP:0001792Small nail1ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent25
HP:0008386HP:0010624Aplastic/hypoplastic toenail1ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0008386HP:0001798Anonychia1ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathy166
HP:0008386HP:0001798Anonychia1ATP2A2 CL E G H488812ORPHA:79151Acrokeratosis verruciformis of HopfHP:0040283 - Occasional86
HP:0008386HP:0001799Short nail1ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0008386HP:0001792Small nail1ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndrome5
HP:0008386HP:0001798Anonychia1ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndrome5
HP:0008386HP:0010624Aplastic/hypoplastic toenail1ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndrome5
HP:0008386HP:0010624Aplastic/hypoplastic toenail1ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant5
HP:0008386HP:0001798Anonychia1ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant.5
HP:0008386HP:0001792Small nail1ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant.5
HP:0008386HP:0001798Anonychia1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0008386HP:0001798Anonychia1ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndrome5
HP:0008386HP:0001792Small nail1ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndrome5
HP:0008386HP:0001798Anonychia1ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 25
HP:0008386HP:0001799Short nail1B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0008386HP:0001792Small nail1BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0008386HP:0010624Aplastic/hypoplastic toenail1BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0008386HP:0010624Aplastic/hypoplastic toenail1BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0008386HP:0001792Small nail1BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0008386HP:0010624Aplastic/hypoplastic toenail1BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0008386HP:0001798Anonychia1BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0008386HP:0001792Small nail1BHLHA9 CL E G H72785735126OMIM:607539Camptosynpolydactyly, complex.4
HP:0008386HP:0001792Small nail1BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0008386HP:0001792Small nail1BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS78
HP:0008386HP:0001792Small nail1BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0008386HP:0010624Aplastic/hypoplastic toenail1BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0008386HP:0001798Anonychia1CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathy118
HP:0008386HP:0001792Small nail1CCDC22 CL E G H2895228909ORPHA:73C syndrome33
HP:0008386HP:0001792Small nail1CDH1 CL E G H9991748OMIM:119580Blepharocheilodontic syndrome 1.1003
HP:0008386HP:0001792Small nail1CDIN1 CL E G H8452926929OMIM:615631Anemia, congenital dyserythropoietic, type IbHP:0040283 - Occasional
HP:0008386HP:0001798Anonychia1CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathy405
HP:0008386HP:0001792Small nail1CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutation114
HP:0008386HP:0001792Small nail1CENPT CL E G H8015225787OMIM:618702SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0008386HP:0010624Aplastic/hypoplastic toenail1CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040282 - Frequent7
HP:0008386HP:0001792Small nail1CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040282 - Frequent7
HP:0008386HP:0010624Aplastic/hypoplastic toenail1CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0008386HP:0001792Small nail1CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0008386HP:0001792Small nail1COL11A1 CL E G H13012186ORPHA:2021Fibrochondrogenesis215
HP:0008386HP:0001792Small nail1COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0008386HP:0010624Aplastic/hypoplastic toenail1COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0008386HP:0001792Small nail1COL11A2 CL E G H13022187ORPHA:2021Fibrochondrogenesis222
HP:0008386HP:0001798Anonychia1COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040282 - Frequent129
HP:0008386HP:0001798Anonychia1COL17A1 CL E G H13082194ORPHA:79406Late-onset junctional epidermolysis bullosaHP:0040282 - Frequent129
HP:0008386HP:0001798Anonychia1COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosa263
HP:0008386HP:0010624Aplastic/hypoplastic toenail1COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosa263
HP:0008386HP:0010624Aplastic/hypoplastic toenail1COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form263
HP:0008386HP:0001798Anonychia1COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040283 - Occasional263
HP:0008386HP:0001798Anonychia1COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040282 - Frequent263
HP:0008386HP:0001798Anonychia1COL7A1 CL E G H12942214ORPHA:158676Localized dystrophic epidermolysis bullosa, nails only263
HP:0008386HP:0010624Aplastic/hypoplastic toenail1COL7A1 CL E G H12942214ORPHA:158676Localized dystrophic epidermolysis bullosa, nails only263
HP:0008386HP:0001792Small nail1COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial formHP:0040283 - Occasional263
HP:0008386HP:0001798Anonychia1COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial formHP:0040282 - Frequent263
HP:0008386HP:0001798Anonychia1COL7A1 CL E G H12942214ORPHA:79409Recessive dystrophic epidermolysis bullosa inversaHP:0040282 - Frequent263
HP:0008386HP:0001798Anonychia1COL7A1 CL E G H12942214ORPHA:79411Self-improving dystrophic epidermolysis bullosaHP:0040282 - Frequent263
HP:0008386HP:0010624Aplastic/hypoplastic toenail1CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0008386HP:0001792Small nail1CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0008386HP:0010624Aplastic/hypoplastic toenail1CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0008386HP:0001798Anonychia1CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0008386HP:0010624Aplastic/hypoplastic toenail1CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent160
HP:0008386HP:0001792Small nail1CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040283 - Occasional4
HP:0008386HP:0001792Small nail1CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0008386HP:0001792Small nail1DHX37 CL E G H5764717210OMIM:618731NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC2
HP:0008386HP:0010624Aplastic/hypoplastic toenail1DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent65
HP:0008386HP:0001792Small nail1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0008386HP:0001792Small nail1DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndrome9
HP:0008386HP:0001798Anonychia1DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndrome9
HP:0008386HP:0010624Aplastic/hypoplastic toenail1DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional9
HP:0008386HP:0001792Small nail1DLL4 CL E G H545672910OMIM:616589Adams-Oliver syndrome 69
HP:0008386HP:0010624Aplastic/hypoplastic toenail1DLL4 CL E G H545672910OMIM:616589Adams-Oliver syndrome 69
HP:0008386HP:0001798Anonychia1DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathy3
HP:0008386HP:0001792Small nail1DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:0008386HP:0010624Aplastic/hypoplastic toenail1DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0008386HP:0001792Small nail1DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0008386HP:0001798Anonychia1DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndrome18
HP:0008386HP:0010624Aplastic/hypoplastic toenail1DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional18
HP:0008386HP:0001792Small nail1DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndrome18
HP:0008386HP:0001792Small nail1DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 2.18
HP:0008386HP:0001792Small nail1DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent
HP:0008386HP:0010624Aplastic/hypoplastic toenail1DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0008386HP:0001792Small nail1DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0008386HP:0010624Aplastic/hypoplastic toenail1DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0008386HP:0010624Aplastic/hypoplastic toenail1DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome3
HP:0008386HP:0001792Small nail1DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome3
HP:0008386HP:0001792Small nail1DPH1 CL E G H18013003OMIM:616901Developmental delay with short stature, dysmorphic features, and sparse hair3
HP:0008386HP:0010624Aplastic/hypoplastic toenail1DPH1 CL E G H18013003OMIM:616901Developmental delay with short stature, dysmorphic features, and sparse hair3
HP:0008386HP:0001799Short nail1DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0008386HP:0001798Anonychia1DSP CL E G H18323052OMIM:609638EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA747
HP:0008386HP:0010624Aplastic/hypoplastic toenail1DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorder747
HP:0008386HP:0001798Anonychia1DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorder747
HP:0008386HP:0010624Aplastic/hypoplastic toenail1DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndrome7
HP:0008386HP:0001792Small nail1DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndrome7
HP:0008386HP:0001792Small nail1EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome.4
HP:0008386HP:0001792Small nail1EED CL E G H87263188ORPHA:3447Weaver syndrome4
HP:0008386HP:0010624Aplastic/hypoplastic toenail1EED CL E G H87263188ORPHA:3447Weaver syndrome4
HP:0008386HP:0001792Small nail1EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0008386HP:0010624Aplastic/hypoplastic toenail1EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0008386HP:0001792Small nail1EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0008386HP:0010624Aplastic/hypoplastic toenail1EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0008386HP:0001792Small nail1ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0008386HP:0010624Aplastic/hypoplastic toenail1ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0008386HP:0001792Small nail1ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0008386HP:0010624Aplastic/hypoplastic toenail1EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional4
HP:0008386HP:0001798Anonychia1EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndrome4
HP:0008386HP:0001792Small nail1EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndrome4
HP:0008386HP:0001792Small nail1EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0008386HP:0010624Aplastic/hypoplastic toenail1EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 44
HP:0008386HP:0001792Small nail1ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive.106
HP:0008386HP:0010624Aplastic/hypoplastic toenail1EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers type209
HP:0008386HP:0001792Small nail1EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent209
HP:0008386HP:0001792Small nail1EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndrome209
HP:0008386HP:0010624Aplastic/hypoplastic toenail1EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndrome209
HP:0008386HP:0001792Small nail1EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis.209
HP:0008386HP:0010624Aplastic/hypoplastic toenail1EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers type137
HP:0008386HP:0001792Small nail1EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent137
HP:0008386HP:0001792Small nail1EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndrome137
HP:0008386HP:0010624Aplastic/hypoplastic toenail1EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndrome137
HP:0008386HP:0001792Small nail1EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis.137
HP:0008386HP:0010624Aplastic/hypoplastic toenail1EZH2 CL E G H21463527ORPHA:3447Weaver syndrome81
HP:0008386HP:0001792Small nail1EZH2 CL E G H21463527ORPHA:3447Weaver syndrome81
HP:0008386HP:0001792Small nail1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0008386HP:0010624Aplastic/hypoplastic toenail1FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia172
HP:0008386HP:0001792Small nail1FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia172
HP:0008386HP:0001792Small nail1FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome.175
HP:0008386HP:0001798Anonychia1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0008386HP:0010624Aplastic/hypoplastic toenail1FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0008386HP:0001792Small nail1FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0008386HP:0001799Short nail1FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0008386HP:0001799Short nail1FLNB CL E G H23173755ORPHA:503Larsen syndromeHP:0040281 - Very frequent233
HP:0008386HP:0001792Small nail1FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome353
HP:0008386HP:0001792Small nail1FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath.70
HP:0008386HP:0010624Aplastic/hypoplastic toenail1FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath70
HP:0008386HP:0001792Small nail1GDF5 CL E G H82004220OMIM:228900Fibular hypoplasia and complex brachydactyly52
HP:0008386HP:0010624Aplastic/hypoplastic toenail1GDF5 CL E G H82004220OMIM:228900Fibular hypoplasia and complex brachydactyly.52
HP:0008386HP:0001792Small nail1GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0008386HP:0001792Small nail1GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0008386HP:0001798Anonychia1GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0008386HP:0001792Small nail1GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndrome1
HP:0008386HP:0010624Aplastic/hypoplastic toenail1GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndrome1
HP:0008386HP:0001798Anonychia1GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathy36
HP:0008386HP:0001792Small nail1GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent73
HP:0008386HP:0001799Short nail1GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0008386HP:0010624Aplastic/hypoplastic toenail1GPC4 CL E G H22394452OMIM:301026Keipert syndrome
HP:0008386HP:0010624Aplastic/hypoplastic toenail1GPC4 CL E G H22394452ORPHA:2662Keipert syndromeHP:0040282 - Frequent
HP:0008386HP:0001798Anonychia1GPC4 CL E G H22394452OMIM:301026Keipert syndrome
HP:0008386HP:0001792Small nail1GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent
HP:0008386HP:0001799Short nail1GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0008386HP:0001798Anonychia1GRHL2 CL E G H799772799OMIM:616029Ectodermal dysplasia/short stature syndrome.33
HP:0008386HP:0001798Anonychia1GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathy108
HP:0008386HP:0001798Anonychia1GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathy5
HP:0008386HP:0001792Small nail1GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0008386HP:0010624Aplastic/hypoplastic toenail1GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0008386HP:0001792Small nail1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0008386HP:0010624Aplastic/hypoplastic toenail1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0008386HP:0010624Aplastic/hypoplastic toenail1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0008386HP:0001792Small nail1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0008386HP:0001792Small nail1HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0008386HP:0001792Small nail1HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutation2
HP:0008386HP:0001792Small nail1HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0008386HP:0010624Aplastic/hypoplastic toenail1HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0008386HP:0010624Aplastic/hypoplastic toenail1HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:0008386HP:0001792Small nail1HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:0008386HP:0001792Small nail1HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0008386HP:0001792Small nail1HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6
HP:0008386HP:0001799Short nail1IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0008386HP:0001799Short nail1IFT43 CL E G H11275229669OMIM:614099Cranioectodermal dysplasia 3.11
HP:0008386HP:0001792Small nail1IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutation9
HP:0008386HP:0001792Small nail1IHH CL E G H35495956ORPHA:63446Acrocapitofemoral dysplasiaHP:0040282 - Frequent44
HP:0008386HP:0001792Small nail1IKBKG CL E G H85175961ORPHA:464Incontinentia pigmenti52
HP:0008386HP:0001792Small nail1INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasia18
HP:0008386HP:0010624Aplastic/hypoplastic toenail1INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasia18
HP:0008386HP:0001798Anonychia1ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.124
HP:0008386HP:0001798Anonychia1ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040282 - Frequent124
HP:0008386HP:0001798Anonychia1JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorder222
HP:0008386HP:0010624Aplastic/hypoplastic toenail1JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorder222
HP:0008386HP:0001798Anonychia1KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathy145
HP:0008386HP:0001792Small nail1KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0008386HP:0001792Small nail1KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndrome13
HP:0008386HP:0010624Aplastic/hypoplastic toenail1KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040282 - Frequent13
HP:0008386HP:0001798Anonychia1KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndrome13
HP:0008386HP:0010624Aplastic/hypoplastic toenail1KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0008386HP:0001798Anonychia1KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome.13
HP:0008386HP:0001792Small nail1KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndrome13
HP:0008386HP:0001798Anonychia1KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndrome13
HP:0008386HP:0001798Anonychia1KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 113
HP:0008386HP:0001792Small nail1KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1.13
HP:0008386HP:0001792Small nail1KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndrome7
HP:0008386HP:0001798Anonychia1KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndrome7
HP:0008386HP:0001798Anonychia1KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0008386HP:0010624Aplastic/hypoplastic toenail1KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0008386HP:0001792Small nail1KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0008386HP:0010624Aplastic/hypoplastic toenail1KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0008386HP:0001792Small nail1KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0008386HP:0010624Aplastic/hypoplastic toenail1KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0008386HP:0001792Small nail1KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0008386HP:0001792Small nail1KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040282 - Frequent
HP:0008386HP:0001798Anonychia1KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplex110
HP:0008386HP:0010624Aplastic/hypoplastic toenail1KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplex110
HP:0008386HP:0001792Small nail1KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0008386HP:0010624Aplastic/hypoplastic toenail1KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0008386HP:0001798Anonychia1LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040282 - Frequent116
HP:0008386HP:0001798Anonychia1LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040282 - Frequent116
HP:0008386HP:0001798Anonychia1LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040282 - Frequent167
HP:0008386HP:0001798Anonychia1LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040282 - Frequent167
HP:0008386HP:0001798Anonychia1LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040282 - Frequent135
HP:0008386HP:0001798Anonychia1LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040282 - Frequent135
HP:0008386HP:0010624Aplastic/hypoplastic toenail1LIG4 CL E G H39816601ORPHA:235Dubowitz syndrome88
HP:0008386HP:0001792Small nail1LIG4 CL E G H39816601ORPHA:235Dubowitz syndrome88
HP:0008386HP:0010624Aplastic/hypoplastic toenail1LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0008386HP:0001792Small nail1LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0008386HP:0001799Short nail1LMNA CL E G H40006636ORPHA:1662Restrictive dermopathyHP:0040283 - Occasional645
HP:0008386HP:0001798Anonychia1LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0008386HP:0001798Anonychia1LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome124
HP:0008386HP:0001798Anonychia1LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndrome124
HP:0008386HP:0010624Aplastic/hypoplastic toenail1LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndrome124
HP:0008386HP:0001798Anonychia1MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0008386HP:0010624Aplastic/hypoplastic toenail1MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0008386HP:0001792Small nail1MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndrome22
HP:0008386HP:0001792Small nail1MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0008386HP:0001792Small nail1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0008386HP:0010624Aplastic/hypoplastic toenail1METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0008386HP:0001792Small nail1METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0008386HP:0010624Aplastic/hypoplastic toenail1MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0008386HP:0001792Small nail1MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0008386HP:0001792Small nail1MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0008386HP:0001798Anonychia1MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040282 - Frequent6
HP:0008386HP:0001792Small nail1MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive.9
HP:0008386HP:0010624Aplastic/hypoplastic toenail1MSX1 CL E G H44877391ORPHA:2228Hypodontia-dysplasia of nails syndrome12
HP:0008386HP:0001792Small nail1MSX1 CL E G H44877391ORPHA:2228Hypodontia-dysplasia of nails syndrome12
HP:0008386HP:0001792Small nail1MSX1 CL E G H44877391OMIM:189500Witkop syndrome.12
HP:0008386HP:0001792Small nail1NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0008386HP:0010624Aplastic/hypoplastic toenail1NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0008386HP:0010624Aplastic/hypoplastic toenail1NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 17
HP:0008386HP:0001792Small nail1NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 1.7
HP:0008386HP:0001792Small nail1NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0008386HP:0001798Anonychia1NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathy
HP:0008386HP:0010624Aplastic/hypoplastic toenail1NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent27
HP:0008386HP:0001792Small nail1NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 1.27
HP:0008386HP:0001798Anonychia1NOG CL E G H92417866ORPHA:140908Brachydactyly type B222
HP:0008386HP:0001798Anonychia1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 1.22
HP:0008386HP:0010624Aplastic/hypoplastic toenail1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 1.22
HP:0008386HP:0010624Aplastic/hypoplastic toenail1NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent17
HP:0008386HP:0001792Small nail1NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 1.17
HP:0008386HP:0001798Anonychia1NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndrome452
HP:0008386HP:0001792Small nail1NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndrome452
HP:0008386HP:0010624Aplastic/hypoplastic toenail1NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional452
HP:0008386HP:0010624Aplastic/hypoplastic toenail1NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5452
HP:0008386HP:0001792Small nail1NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5452
HP:0008386HP:0001798Anonychia1NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5452
HP:0008386HP:0001799Short nail1NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138
HP:0008386HP:0010624Aplastic/hypoplastic toenail1NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent12
HP:0008386HP:0001799Short nail1NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type.53
HP:0008386HP:0001792Small nail1NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0008386HP:0001792Small nail1NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0008386HP:0010624Aplastic/hypoplastic toenail1NSD1 CL E G H6432414234ORPHA:3447Weaver syndrome544
HP:0008386HP:0001792Small nail1NSD1 CL E G H6432414234ORPHA:3447Weaver syndrome544
HP:0008386HP:0001792Small nail1NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0008386HP:0001792Small nail1NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndrome84
HP:0008386HP:0010624Aplastic/hypoplastic toenail1NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndrome84
HP:0008386HP:0001792Small nail1ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0008386HP:0010624Aplastic/hypoplastic toenail1ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0008386HP:0001792Small nail1ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040282 - Frequent1
HP:0008386HP:0001792Small nail1OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2.201
HP:0008386HP:0001792Small nail1OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0008386HP:0010624Aplastic/hypoplastic toenail1PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent26
HP:0008386HP:0001792Small nail1PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0008386HP:0001792Small nail1PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0008386HP:0001792Small nail1PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0008386HP:0001792Small nail1PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0008386HP:0010624Aplastic/hypoplastic toenail1PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0008386HP:0001798Anonychia1PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0008386HP:0001792Small nail1PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0008386HP:0001792Small nail1PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0008386HP:0001792Small nail1PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0008386HP:0001792Small nail1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0008386HP:0001792Small nail1PIGO CL E G H8472023215OMIM:614749Hyperphosphatasia with mental retardation syndrome 284
HP:0008386HP:0001792Small nail1PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0008386HP:0001798Anonychia1PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathy2
HP:0008386HP:0001798Anonychia1PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathy3
HP:0008386HP:0001792Small nail1PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation57
HP:0008386HP:0001792Small nail1PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0008386HP:0001792Small nail1PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0008386HP:0001792Small nail1PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0008386HP:0001792Small nail1PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutation3
HP:0008386HP:0001792Small nail1PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6
HP:0008386HP:0001792Small nail1PLEC CL E G H53399069ORPHA:257Epidermolysis bullosa simplex with muscular dystrophy759
HP:0008386HP:0001798Anonychia1PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.759
HP:0008386HP:0001798Anonychia1PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathy244
HP:0008386HP:0001792Small nail1POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.10
HP:0008386HP:0001792Small nail1POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0008386HP:0001792Small nail1POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 2HP:0040283 - Occasional6
HP:0008386HP:0001798Anonychia1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0008386HP:0010624Aplastic/hypoplastic toenail1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0008386HP:0001792Small nail1PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.22
HP:0008386HP:0010624Aplastic/hypoplastic toenail1PPP1CB CL E G H55009282ORPHA:2701Noonan syndrome-like disorder with loose anagen hair9
HP:0008386HP:0001792Small nail1PPP1CB CL E G H55009282ORPHA:2701Noonan syndrome-like disorder with loose anagen hair9
HP:0008386HP:0001792Small nail1PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome10
HP:0008386HP:0010624Aplastic/hypoplastic toenail1PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome10
HP:0008386HP:0001792Small nail1PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndrome2
HP:0008386HP:0010624Aplastic/hypoplastic toenail1PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndrome2
HP:0008386HP:0010624Aplastic/hypoplastic toenail1PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndrome2
HP:0008386HP:0001792Small nail1PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndrome2
HP:0008386HP:0001792Small nail1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0008386HP:0001792Small nail1PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfism6
HP:0008386HP:0001792Small nail1RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0008386HP:0001798Anonychia1RBBP8 CL E G H59329891OMIM:251255Jawad syndrome68
HP:0008386HP:0010624Aplastic/hypoplastic toenail1RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional3
HP:0008386HP:0001792Small nail1RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndrome3
HP:0008386HP:0001798Anonychia1RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndrome3
HP:0008386HP:0001792Small nail1RBPJ CL E G H35165724OMIM:614814Adams-Oliver syndrome 33
HP:0008386HP:0001792Small nail1RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0008386HP:0010624Aplastic/hypoplastic toenail1RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0008386HP:0001792Small nail1RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0008386HP:0001792Small nail1RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndrome69
HP:0008386HP:0010624Aplastic/hypoplastic toenail1RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndrome69
HP:0008386HP:0001798Anonychia1RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 1.69
HP:0008386HP:0001792Small nail1RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0008386HP:0001792Small nail1RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0008386HP:0001792Small nail1ROR2 CL E G H492010257OMIM:113000Brachydactyly, type B1120
HP:0008386HP:0001798Anonychia1ROR2 CL E G H492010257OMIM:113000Brachydactyly, type B1.120
HP:0008386HP:0001792Small nail1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0008386HP:0001792Small nail1RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndrome65
HP:0008386HP:0001792Small nail1RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal.3
HP:0008386HP:0001798Anonychia1RSPO4 CL E G H34363716175OMIM:206800Anonychia congenita.HP:0003577 - Congenital onset8
HP:0008386HP:0010624Aplastic/hypoplastic toenail1RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent77
HP:0008386HP:0001792Small nail1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0008386HP:0001798Anonychia1SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathy126
HP:0008386HP:0001798Anonychia1SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathy427
HP:0008386HP:0010624Aplastic/hypoplastic toenail1SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0008386HP:0001792Small nail1SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0008386HP:0010624Aplastic/hypoplastic toenail1SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0008386HP:0001792Small nail1SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0008386HP:0001792Small nail1SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60
HP:0008386HP:0001792Small nail1SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0008386HP:0010624Aplastic/hypoplastic toenail1SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0008386HP:0010624Aplastic/hypoplastic toenail1SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0008386HP:0001792Small nail1SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0008386HP:0010624Aplastic/hypoplastic toenail1SHOC2 CL E G H803615454ORPHA:2701Noonan syndrome-like disorder with loose anagen hair74
HP:0008386HP:0001792Small nail1SHOC2 CL E G H803615454ORPHA:2701Noonan syndrome-like disorder with loose anagen hair74
HP:0008386HP:0001792Small nail1SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosis66
HP:0008386HP:0010624Aplastic/hypoplastic toenail1SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosisHP:0040281 - Very frequent66
HP:0008386HP:0001792Small nail1SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0008386HP:0001798Anonychia1SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathy11
HP:0008386HP:0001798Anonychia1SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathy166
HP:0008386HP:0001792Small nail1SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0008386HP:0001798Anonychia1SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndromeHP:0040284 - Very rare
HP:0008386HP:0001792Small nail1SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasia9
HP:0008386HP:0010624Aplastic/hypoplastic toenail1SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasia9
HP:0008386HP:0010624Aplastic/hypoplastic toenail1SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0008386HP:0010624Aplastic/hypoplastic toenail1SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndrome617
HP:0008386HP:0001792Small nail1SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent617
HP:0008386HP:0001792Small nail1SMARCAD1 CL E G H5691618398OMIM:181600Huriez syndrome.6
HP:0008386HP:0001792Small nail1SMARCAD1 CL E G H5691618398ORPHA:384Huriez syndromeHP:0040281 - Very frequent6
HP:0008386HP:0010624Aplastic/hypoplastic toenail1SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndrome87
HP:0008386HP:0001792Small nail1SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent87
HP:0008386HP:0010624Aplastic/hypoplastic toenail1SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndrome1
HP:0008386HP:0001792Small nail1SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent1
HP:0008386HP:0001792Small nail1SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent
HP:0008386HP:0010624Aplastic/hypoplastic toenail1SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndrome
HP:0008386HP:0010624Aplastic/hypoplastic toenail1SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndrome47
HP:0008386HP:0001792Small nail1SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent47
HP:0008386HP:0001792Small nail1SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0008386HP:0010624Aplastic/hypoplastic toenail1SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0008386HP:0010624Aplastic/hypoplastic toenail1SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndrome14
HP:0008386HP:0001792Small nail1SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent14
HP:0008386HP:0010624Aplastic/hypoplastic toenail1SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 2714
HP:0008386HP:0001792Small nail1SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 27.14
HP:0008386HP:0010624Aplastic/hypoplastic toenail1SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndrome
HP:0008386HP:0001792Small nail1SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent
HP:0008386HP:0001799Short nail1SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0008386HP:0001792Small nail1SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0008386HP:0001792Small nail1STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome.24
HP:0008386HP:0001792Small nail1STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0008386HP:0010624Aplastic/hypoplastic toenail1STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0008386HP:0001792Small nail1SUZ12 CL E G H2351217101ORPHA:3447Weaver syndrome1
HP:0008386HP:0010624Aplastic/hypoplastic toenail1SUZ12 CL E G H2351217101ORPHA:3447Weaver syndrome1
HP:0008386HP:0001798Anonychia1TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome.271
HP:0008386HP:0001798Anonychia1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0008386HP:0001792Small nail1TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0008386HP:0010624Aplastic/hypoplastic toenail1TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0008386HP:0001792Small nail1TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0008386HP:0010624Aplastic/hypoplastic toenail1TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0008386HP:0010624Aplastic/hypoplastic toenail1TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndrome100
HP:0008386HP:0001792Small nail1TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndrome100
HP:0008386HP:0010624Aplastic/hypoplastic toenail1TBX4 CL E G H949611603ORPHA:238578Familial clubfoot due to 17q23.1q23.2 microduplication55
HP:0008386HP:0001792Small nail1TBX4 CL E G H949611603ORPHA:238578Familial clubfoot due to 17q23.1q23.2 microduplication55
HP:0008386HP:0001792Small nail1TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 431
HP:0008386HP:0010624Aplastic/hypoplastic toenail1TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 431
HP:0008386HP:0001792Small nail1TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorder12
HP:0008386HP:0010624Aplastic/hypoplastic toenail1TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorder12
HP:0008386HP:0010624Aplastic/hypoplastic toenail1TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent48
HP:0008386HP:0010624Aplastic/hypoplastic toenail1TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent238
HP:0008386HP:0001792Small nail1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0008386HP:0010624Aplastic/hypoplastic toenail1TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent60
HP:0008386HP:0001792Small nail1TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0008386HP:0010624Aplastic/hypoplastic toenail1TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0008386HP:0001792Small nail1TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0008386HP:0001798Anonychia1TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0008386HP:0001792Small nail1TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome.140
HP:0008386HP:0001798Anonychia1TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathy1
HP:0008386HP:0001792Small nail1TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0008386HP:0001792Small nail1TSPAN7 CL E G H710211854OMIM:300210MENTAL RETARDATION, X-LINKED 58; MRX5826
HP:0008386HP:0001792Small nail1TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0008386HP:0010624Aplastic/hypoplastic toenail1TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent1
HP:0008386HP:0010624Aplastic/hypoplastic toenail1USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent8
HP:0008386HP:0001792Small nail1VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0008386HP:0010624Aplastic/hypoplastic toenail1VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0008386HP:0001792Small nail1WASHC5 CL E G H989728984ORPHA:73C syndrome83
HP:0008386HP:0001792Small nail1WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 1.14
HP:0008386HP:0001792Small nail1WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0008386HP:0010624Aplastic/hypoplastic toenail1WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0008386HP:0001799Short nail1WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0008386HP:0001798Anonychia1WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia.71
HP:0008386HP:0001792Small nail1WNT10A CL E G H8032613829OMIM:224750Schopf-Schulz-Passarge syndrome.71
HP:0008386HP:0010624Aplastic/hypoplastic toenail1WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0008386HP:0001798Anonychia1WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0008386HP:0001798Anonychia1WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency.13
HP:0008386HP:0010624Aplastic/hypoplastic toenail1WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent40
HP:0008386HP:0001798Anonychia1ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndromeHP:0040282 - Frequent17
HP:0008386HP:0001792Small nail1ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39
HP:0008386HP:0010624Aplastic/hypoplastic toenail1ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39
HP:0008386HP:0001799Short nail1ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathyHP:0040283 - Occasional83
HP:0008386HP:0001799Short nail1ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal.83
HP:0008386HP:0001792Small nail1ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0008386HP:0010624Aplastic/hypoplastic toenail1ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0008386HP:0001792Small nail1ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0008386HP:0001800Hypoplastic toenails2AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0008386HP:0001802Absent toenail2APC CL E G H324583ORPHA:3258Cenani-Lenz syndromeHP:0040282 - Frequent3179
HP:0008386HP:0001817Absent fingernail2APC CL E G H324583ORPHA:3258Cenani-Lenz syndromeHP:0040281 - Very frequent3179
HP:0008386HP:0001817Absent fingernail2ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional147
HP:0008386HP:0001804Hypoplastic fingernail2ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional147
HP:0008386HP:0001804Hypoplastic fingernail2ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0008386HP:0001800Hypoplastic toenails2ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0008386HP:0001817Absent fingernail2ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0008386HP:0001802Absent toenail2ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0008386HP:0001800Hypoplastic toenails2ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0008386HP:0001804Hypoplastic fingernail2ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0008386HP:0001804Hypoplastic fingernail2ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0008386HP:0001800Hypoplastic toenails2ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0008386HP:0001804Hypoplastic fingernail2ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0008386HP:0001817Absent fingernail2ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathy166
HP:0008386HP:0001802Absent toenail2ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndromeHP:0040282 - Frequent5
HP:0008386HP:0001817Absent fingernail2ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndromeHP:0040281 - Very frequent5
HP:0008386HP:0001800Hypoplastic toenails2ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndromeHP:0040283 - Occasional5
HP:0008386HP:0001817Absent fingernail2ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant5
HP:0008386HP:0001802Absent toenail2ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant5
HP:0008386HP:0001817Absent fingernail2ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040281 - Very frequent5
HP:0008386HP:0001817Absent fingernail2ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent5
HP:0008386HP:0001804Hypoplastic fingernail2ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent5
HP:0008386HP:0001800Hypoplastic toenails2BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0008386HP:0001800Hypoplastic toenails2BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0008386HP:0001802Absent toenail2BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent5
HP:0008386HP:0001817Absent fingernail2BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent5
HP:0008386HP:0001804Hypoplastic fingernail2BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0008386HP:0001800Hypoplastic toenails2BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0008386HP:0001817Absent fingernail2CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathy118
HP:0008386HP:0001804Hypoplastic fingernail2CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040283 - Occasional33
HP:0008386HP:0001817Absent fingernail2CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathy405
HP:0008386HP:0001804Hypoplastic fingernail2CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional114
HP:0008386HP:0001804Hypoplastic fingernail2CENPT CL E G H8015225787OMIM:618702SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0008386HP:0001800Hypoplastic toenails2CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0008386HP:0001804Hypoplastic fingernail2COL11A1 CL E G H13012186ORPHA:2021FibrochondrogenesisHP:0040282 - Frequent215
HP:0008386HP:0001804Hypoplastic fingernail2COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0008386HP:0001800Hypoplastic toenails2COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0008386HP:0001804Hypoplastic fingernail2COL11A2 CL E G H13022187ORPHA:2021FibrochondrogenesisHP:0040282 - Frequent222
HP:0008386HP:0001817Absent fingernail2COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosaHP:0040283 - Occasional263
HP:0008386HP:0001802Absent toenail2COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosaHP:0040283 - Occasional263
HP:0008386HP:0001802Absent toenail2COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040283 - Occasional263
HP:0008386HP:0001802Absent toenail2COL7A1 CL E G H12942214ORPHA:158676Localized dystrophic epidermolysis bullosa, nails onlyHP:0040283 - Occasional263
HP:0008386HP:0001800Hypoplastic toenails2CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0008386HP:0001802Absent toenail2CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0008386HP:0001817Absent fingernail2CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0008386HP:0001817Absent fingernail2DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional9
HP:0008386HP:0001804Hypoplastic fingernail2DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional9
HP:0008386HP:0001800Hypoplastic toenails2DLL4 CL E G H545672910OMIM:616589Adams-Oliver syndrome 6HP:0040283 - Occasional9
HP:0008386HP:0001817Absent fingernail2DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathy3
HP:0008386HP:0001800Hypoplastic toenails2DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0008386HP:0001817Absent fingernail2DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional18
HP:0008386HP:0001804Hypoplastic fingernail2DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional18
HP:0008386HP:0001804Hypoplastic fingernail2DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0008386HP:0001800Hypoplastic toenails2DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0008386HP:0001800Hypoplastic toenails2DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0008386HP:0001800Hypoplastic toenails2DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndromeHP:0040282 - Frequent3
HP:0008386HP:0001800Hypoplastic toenails2DPH1 CL E G H18013003OMIM:616901Developmental delay with short stature, dysmorphic features, and sparse hair.3
HP:0008386HP:0001817Absent fingernail2DSP CL E G H18323052OMIM:609638EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA747
HP:0008386HP:0001802Absent toenail2DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorderHP:0040282 - Frequent747
HP:0008386HP:0001817Absent fingernail2DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorderHP:0040282 - Frequent747
HP:0008386HP:0001800Hypoplastic toenails2DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent7
HP:0008386HP:0001800Hypoplastic toenails2EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040281 - Very frequent4
HP:0008386HP:0001800Hypoplastic toenails2EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0008386HP:0001800Hypoplastic toenails2EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0008386HP:0001800Hypoplastic toenails2ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0008386HP:0001817Absent fingernail2EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional4
HP:0008386HP:0001804Hypoplastic fingernail2EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional4
HP:0008386HP:0001800Hypoplastic toenails2EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 4.4
HP:0008386HP:0001800Hypoplastic toenails2EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent209
HP:0008386HP:0001800Hypoplastic toenails2EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent209
HP:0008386HP:0001800Hypoplastic toenails2EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent137
HP:0008386HP:0001800Hypoplastic toenails2EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent137
HP:0008386HP:0001800Hypoplastic toenails2EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040281 - Very frequent81
HP:0008386HP:0001804Hypoplastic fingernail2FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0008386HP:0001800Hypoplastic toenails2FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0008386HP:0001804Hypoplastic fingernail2FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0008386HP:0001817Absent fingernail2FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0008386HP:0001800Hypoplastic toenails2FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0008386HP:0001800Hypoplastic toenails2FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath70
HP:0008386HP:0001800Hypoplastic toenails2GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent1
HP:0008386HP:0001817Absent fingernail2GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathy36
HP:0008386HP:0001802Absent toenail2GPC4 CL E G H22394452OMIM:301026Keipert syndromeHP:0040284 - Very rare
HP:0008386HP:0001817Absent fingernail2GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathy108
HP:0008386HP:0001817Absent fingernail2GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathy5
HP:0008386HP:0001800Hypoplastic toenails2GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0008386HP:0001800Hypoplastic toenails2GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0008386HP:0001800Hypoplastic toenails2GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0008386HP:0001804Hypoplastic fingernail2HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional2
HP:0008386HP:0001800Hypoplastic toenails2HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0008386HP:0001800Hypoplastic toenails2HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040282 - Frequent113
HP:0008386HP:0001804Hypoplastic fingernail2HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0008386HP:0001804Hypoplastic fingernail2IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional9
HP:0008386HP:0001804Hypoplastic fingernail2IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040281 - Very frequent52
HP:0008386HP:0001800Hypoplastic toenails2INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasiaHP:0040282 - Frequent18
HP:0008386HP:0001802Absent toenail2JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorderHP:0040282 - Frequent222
HP:0008386HP:0001817Absent fingernail2JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorderHP:0040282 - Frequent222
HP:0008386HP:0001817Absent fingernail2KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathy145
HP:0008386HP:0001817Absent fingernail2KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0008386HP:0001804Hypoplastic fingernail2KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040283 - Occasional13
HP:0008386HP:0001804Hypoplastic fingernail2KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0008386HP:0001802Absent toenail2KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040283 - Occasional13
HP:0008386HP:0001802Absent toenail2KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0008386HP:0001817Absent fingernail2KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent13
HP:0008386HP:0001804Hypoplastic fingernail2KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent13
HP:0008386HP:0001804Hypoplastic fingernail2KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent7
HP:0008386HP:0001817Absent fingernail2KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent7
HP:0008386HP:0001802Absent toenail2KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0008386HP:0001800Hypoplastic toenails2KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0008386HP:0001800Hypoplastic toenails2KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0008386HP:0001802Absent toenail2KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplexHP:0040283 - Occasional110
HP:0008386HP:0001800Hypoplastic toenails2KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0008386HP:0001800Hypoplastic toenails2LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040283 - Occasional88
HP:0008386HP:0001800Hypoplastic toenails2LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0008386HP:0001802Absent toenail2LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndromeHP:0040282 - Frequent124
HP:0008386HP:0001817Absent fingernail2LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndromeHP:0040281 - Very frequent124
HP:0008386HP:0001802Absent toenail2MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0008386HP:0001817Absent fingernail2MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0008386HP:0001804Hypoplastic fingernail2MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040282 - Frequent22
HP:0008386HP:0001800Hypoplastic toenails2METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0008386HP:0001800Hypoplastic toenails2MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0008386HP:0001804Hypoplastic fingernail2MSX1 CL E G H44877391ORPHA:2228Hypodontia-dysplasia of nails syndromeHP:0040281 - Very frequent12
HP:0008386HP:0001800Hypoplastic toenails2MSX1 CL E G H44877391ORPHA:2228Hypodontia-dysplasia of nails syndromeHP:0040281 - Very frequent12
HP:0008386HP:0001800Hypoplastic toenails2NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0008386HP:0001800Hypoplastic toenails2NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 1.7
HP:0008386HP:0001817Absent fingernail2NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathy
HP:0008386HP:0001817Absent fingernail2NOG CL E G H92417866ORPHA:140908Brachydactyly type B2HP:0040281 - Very frequent22
HP:0008386HP:0001817Absent fingernail2NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional452
HP:0008386HP:0001804Hypoplastic fingernail2NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional452
HP:0008386HP:0001800Hypoplastic toenails2NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5452
HP:0008386HP:0001802Absent toenail2NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5452
HP:0008386HP:0001800Hypoplastic toenails2NSD1 CL E G H6432414234ORPHA:3447Weaver syndromeHP:0040281 - Very frequent544
HP:0008386HP:0001800Hypoplastic toenails2NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040283 - Occasional84
HP:0008386HP:0001800Hypoplastic toenails2ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0008386HP:0001800Hypoplastic toenails2PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0008386HP:0001804Hypoplastic fingernail2PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0008386HP:0001802Absent toenail2PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0008386HP:0001804Hypoplastic fingernail2PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040281 - Very frequent37
HP:0008386HP:0001804Hypoplastic fingernail2PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0008386HP:0001804Hypoplastic fingernail2PIGO CL E G H8472023215OMIM:614749Hyperphosphatasia with mental retardation syndrome 284
HP:0008386HP:0001817Absent fingernail2PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathy2
HP:0008386HP:0001817Absent fingernail2PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathy3
HP:0008386HP:0001804Hypoplastic fingernail2PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional3
HP:0008386HP:0001804Hypoplastic fingernail2PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0008386HP:0001804Hypoplastic fingernail2PLEC CL E G H53399069ORPHA:257Epidermolysis bullosa simplex with muscular dystrophyHP:0040281 - Very frequent759
HP:0008386HP:0001817Absent fingernail2PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathy244
HP:0008386HP:0001817Absent fingernail2PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0008386HP:0001802Absent toenail2PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0008386HP:0001800Hypoplastic toenails2PPP1CB CL E G H55009282ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040283 - Occasional9
HP:0008386HP:0001800Hypoplastic toenails2PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome10
HP:0008386HP:0001800Hypoplastic toenails2PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent2
HP:0008386HP:0001800Hypoplastic toenails2PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent2
HP:0008386HP:0001804Hypoplastic fingernail2PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040283 - Occasional6
HP:0008386HP:0001804Hypoplastic fingernail2RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional3
HP:0008386HP:0001817Absent fingernail2RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional3
HP:0008386HP:0001804Hypoplastic fingernail2RBPJ CL E G H35165724OMIM:614814Adams-Oliver syndrome 33
HP:0008386HP:0001800Hypoplastic toenails2RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0008386HP:0001800Hypoplastic toenails2RIPK4 CL E G H54101496ORPHA:1234Bartsocas-Papas syndromeHP:0040281 - Very frequent69
HP:0008386HP:0001804Hypoplastic fingernail2ROR2 CL E G H492010257OMIM:113000Brachydactyly, type B1120
HP:0008386HP:0001804Hypoplastic fingernail2RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040282 - Frequent65
HP:0008386HP:0001817Absent fingernail2SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathy126
HP:0008386HP:0001817Absent fingernail2SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathy427
HP:0008386HP:0001800Hypoplastic toenails2SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0008386HP:0001800Hypoplastic toenails2SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0008386HP:0001800Hypoplastic toenails2SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040281 - Very frequent53
HP:0008386HP:0001800Hypoplastic toenails2SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0008386HP:0001800Hypoplastic toenails2SHOC2 CL E G H803615454ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040283 - Occasional74
HP:0008386HP:0001804Hypoplastic fingernail2SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosisHP:0040281 - Very frequent66
HP:0008386HP:0001817Absent fingernail2SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathy11
HP:0008386HP:0001817Absent fingernail2SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathy166
HP:0008386HP:0001800Hypoplastic toenails2SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasiaHP:0040282 - Frequent9
HP:0008386HP:0001804Hypoplastic fingernail2SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndrome617
HP:0008386HP:0001800Hypoplastic toenails2SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndrome617
HP:0008386HP:0001804Hypoplastic fingernail2SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndrome87
HP:0008386HP:0001800Hypoplastic toenails2SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndrome87
HP:0008386HP:0001804Hypoplastic fingernail2SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndrome1
HP:0008386HP:0001800Hypoplastic toenails2SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndrome1
HP:0008386HP:0001800Hypoplastic toenails2SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndrome
HP:0008386HP:0001804Hypoplastic fingernail2SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndrome
HP:0008386HP:0001800Hypoplastic toenails2SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndrome47
HP:0008386HP:0001804Hypoplastic fingernail2SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndrome47
HP:0008386HP:0001800Hypoplastic toenails2SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0008386HP:0001800Hypoplastic toenails2SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndrome14
HP:0008386HP:0001804Hypoplastic fingernail2SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndrome14
HP:0008386HP:0001800Hypoplastic toenails2SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 2714
HP:0008386HP:0001804Hypoplastic fingernail2SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 2714
HP:0008386HP:0001804Hypoplastic fingernail2SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndrome
HP:0008386HP:0001800Hypoplastic toenails2SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndrome
HP:0008386HP:0001800Hypoplastic toenails2STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0008386HP:0001800Hypoplastic toenails2SUZ12 CL E G H2351217101ORPHA:3447Weaver syndromeHP:0040281 - Very frequent1
HP:0008386HP:0001817Absent fingernail2TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040281 - Very frequent271
HP:0008386HP:0001800Hypoplastic toenails2TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0008386HP:0001804Hypoplastic fingernail2TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0008386HP:0001800Hypoplastic toenails2TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0008386HP:0001800Hypoplastic toenails2TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndromeHP:0040283 - Occasional100
HP:0008386HP:0001800Hypoplastic toenails2TBX4 CL E G H949611603ORPHA:238578Familial clubfoot due to 17q23.1q23.2 microduplicationHP:0040283 - Occasional55
HP:0008386HP:0001800Hypoplastic toenails2TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040283 - Occasional31
HP:0008386HP:0001800Hypoplastic toenails2TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040283 - Occasional12
HP:0008386HP:0001804Hypoplastic fingernail2TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0008386HP:0001800Hypoplastic toenails2TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0008386HP:0001817Absent fingernail2TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathy1
HP:0008386HP:0001804Hypoplastic fingernail2TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0008386HP:0001800Hypoplastic toenails2VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0008386HP:0001804Hypoplastic fingernail2WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040283 - Occasional83
HP:0008386HP:0001800Hypoplastic toenails2WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0008386HP:0001802Absent toenail2WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly.13
HP:0008386HP:0001800Hypoplastic toenails2ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39
HP:0008386HP:0001800Hypoplastic toenails2ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0008386HP:0001804Hypoplastic fingernail2ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0008386HP:0033975Absent second fingernail3 CL E G H
HP:0008386HP:0008398Hypoplastic fifth fingernail3ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0008386HP:0011937Hypoplastic fifth toenail3ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0008386HP:0200104Absent fifth fingernail3ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0008386HP:0200105Absent fifth toenail3ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0008386HP:0011937Hypoplastic fifth toenail3ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0008386HP:0008398Hypoplastic fifth fingernail3ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0008386HP:0008398Hypoplastic fifth fingernail3ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0008386HP:0008398Hypoplastic fifth fingernail3ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0008386HP:0011937Hypoplastic fifth toenail3ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0008386HP:0012554Absent thumbnail3ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare166
HP:0008386HP:0012554Absent thumbnail3ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndromeHP:0040283 - Occasional5
HP:0008386HP:0200104Absent fifth fingernail3ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndromeHP:0040283 - Occasional5
HP:0008386HP:0012554Absent thumbnail3ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant5
HP:0008386HP:0200104Absent fifth fingernail3ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant5
HP:0008386HP:0012554Absent thumbnail3CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare118
HP:0008386HP:0012554Absent thumbnail3CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare405
HP:0008386HP:0012554Absent thumbnail3DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare3
HP:0008386HP:0011937Hypoplastic fifth toenail3DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0008386HP:0008398Hypoplastic fifth fingernail3DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0008386HP:0011937Hypoplastic fifth toenail3DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0008386HP:0012554Absent thumbnail3GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare36
HP:0008386HP:0012554Absent thumbnail3GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare108
HP:0008386HP:0012554Absent thumbnail3GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare5
HP:0008386HP:0011937Hypoplastic fifth toenail3HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndromeHP:0040282 - Frequent11
HP:0008386HP:0012554Absent thumbnail3KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare145
HP:0008386HP:0012553Hypoplastic thumbnail3KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome.13
HP:0008386HP:0012553Hypoplastic thumbnail3KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040283 - Occasional13
HP:0008386HP:0012554Absent thumbnail3KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0008386HP:0012555Absent nail of hallux3KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome.13
HP:0008386HP:0012555Absent nail of hallux3KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040283 - Occasional13
HP:0008386HP:0011937Hypoplastic fifth toenail3KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0008386HP:0012554Absent thumbnail3NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare
HP:0008386HP:0012553Hypoplastic thumbnail3PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0008386HP:0008398Hypoplastic fifth fingernail3PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0008386HP:0200105Absent fifth toenail3PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0008386HP:0012554Absent thumbnail3PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare2
HP:0008386HP:0012554Absent thumbnail3PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare3
HP:0008386HP:0012554Absent thumbnail3PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare244
HP:0008386HP:0011937Hypoplastic fifth toenail3PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040284 - Very rare10
HP:0008386HP:0008398Hypoplastic fifth fingernail3RBPJ CL E G H35165724OMIM:614814Adams-Oliver syndrome 33
HP:0008386HP:0012554Absent thumbnail3SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare126
HP:0008386HP:0012554Absent thumbnail3SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare427
HP:0008386HP:0011937Hypoplastic fifth toenail3SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0008386HP:0012554Absent thumbnail3SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare11
HP:0008386HP:0012554Absent thumbnail3SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare166
HP:0008386HP:0011937Hypoplastic fifth toenail3SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0008386HP:0008398Hypoplastic fifth fingernail3SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0008386HP:0008398Hypoplastic fifth fingernail3SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0008386HP:0011937Hypoplastic fifth toenail3SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0008386HP:0011937Hypoplastic fifth toenail3SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0008386HP:0008398Hypoplastic fifth fingernail3SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0008386HP:0008398Hypoplastic fifth fingernail3SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0008386HP:0011937Hypoplastic fifth toenail3SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0008386HP:0011937Hypoplastic fifth toenail3SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0008386HP:0008398Hypoplastic fifth fingernail3SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0008386HP:0011937Hypoplastic fifth toenail3SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0008386HP:0008398Hypoplastic fifth fingernail3SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0008386HP:0008398Hypoplastic fifth fingernail3SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 2714
HP:0008386HP:0011937Hypoplastic fifth toenail3SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 27.14
HP:0008386HP:0008398Hypoplastic fifth fingernail3SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0008386HP:0011937Hypoplastic fifth toenail3SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0008386HP:0012554Absent thumbnail3TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare1


Genes (248) :ACTG2 ACTL6B ADAMTSL2 AFF4 ALG12 ALG3 ALOX12B ALOXE3 APC APC2 ARHGAP31 ARID1A ARID1B ARID2 ARX ATP2A2 ATP6V0A2 ATP6V1B2 B3GALT6 BAZ1B BCL7B BCR BHLHA9 BICRA BMPER BUD23 CARS1 CASK CCDC22 CCDC32 CDH1 CDIN1 CDKL5 CDKN1C CENPT CKAP2L CLIP2 COL11A1 COL11A2 COL17A1 COL7A1 CPT2 CRKL CTC1 CWC27 DHX37 DKC1 DLK1 DLL4 DMXL2 DNAJC21 DNAJC30 DOCK6 DPF2 DPH1 DPYD DSP DYNC2LI1 EED EIF4H EIF5A ELN EOGT ERCC2 ERCC3 EVC EVC2 EZH2 FBXO28 FGFR1 FGFR2 FIG4 FKBP6 FLNB FRAS1 FTO GDF5 GJB6 GLI1 GNAO1 GPC3 GPC4 GRHL2 GRIN1 GRM7 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HEPHL1 HMGA2 HOXA13 HRAS HUWE1 HYMAI IFT122 IFT43 IGF2 IHH IKBKG INPPL1 ITGB4 JUP KCNA1 KCNH1 KCNN3 KDM1A KIF15 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LIG4 LIMK1 LMNA LMX1B LRP4 MAPK1 MBTPS2 MCTP2 MEG3 METTL27 MLXIPL MMP1 MPLKIP MSX1 NCF1 NECTIN4 NEPRO NEUROD2 NHP2 NOG NOP10 NOTCH1 NOTCH2 NPM1 NPR2 NSD1 NSDHL NSUN2 ODC1 OFD1 OTUD5 PARN PGAP2 PGAP3 PIGA PIGB PIGF PIGL PIGN PIGO PIGP PIGQ PIGV PIGW PIGY PLAG1 PLAGL1 PLEC PNKP POC1A POLR3A POP1 PORCN PPM1D PPP1CB PPP2R5D PRKACA PRKACB PRR12 PTDSS1 RAF1 RBBP8 RBPJ RERE RFC2 RIPK4 RLIM RNF113A ROR2 RPS6KA3 RSPO1 RSPO4 RTEL1 RTL1 SCN1B SCN2A SCO2 SET SETD2 SHANK3 SHOC2 SHOX SIAH1 SIK1 SLC25A22 SLC25A24 SLC35D1 SMARCA2 SMARCA4 SMARCAD1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 SOX9 SPEN STAMBP STX1A SUZ12 TARS1 TBC1D24 TBL2 TBX3 TBX4 TCTN3 TELO2 TERC TERT TFAP2A TINF2 TMEM222 TMEM270 TP63 TRIM8 TRRAP TSPAN7 TWIST2 TYMS USB1 VAC14 VPS37D WASHC5 WDR73 WLS WNT10A WNT7A WRAP53 ZBTB20 ZIC3 ZMPSTE24 ZMYM2 ZNF462

Diseases (202) :ORPHA:2604 OMIM:618470 OMIM:231050 ORPHA:444077 ORPHA:79324 OMIM:601110 OMIM:242100 ORPHA:3258 ORPHA:821 ORPHA:974 OMIM:100300 ORPHA:1465 OMIM:614607 OMIM:135900 ORPHA:1934 ORPHA:79151 OMIM:278250 ORPHA:79499 OMIM:124480 ORPHA:79500 ORPHA:3473 OMIM:616455 OMIM:271640 ORPHA:904 ORPHA:261330 OMIM:607539 OMIM:619325 OMIM:608022 ORPHA:33364 ORPHA:7 OMIM:619123 OMIM:119580 OMIM:615631 ORPHA:397590 OMIM:618702 ORPHA:3255 ORPHA:2021 OMIM:228520 ORPHA:79402 ORPHA:79406 ORPHA:231568 ORPHA:89842 ORPHA:79408 ORPHA:158676 ORPHA:79410 ORPHA:79409 ORPHA:79411 OMIM:608836 ORPHA:1775 ORPHA:166035 OMIM:250410 OMIM:618731 ORPHA:96334 OMIM:616589 OMIM:617052 OMIM:614219 OMIM:618027 ORPHA:459061 OMIM:616901 ORPHA:1675 OMIM:609638 ORPHA:158687 ORPHA:289 OMIM:617561 ORPHA:3447 OMIM:619376 OMIM:194050 OMIM:615297 OMIM:601675 ORPHA:952 OMIM:193530 OMIM:619777 OMIM:166250 OMIM:123790 OMIM:216340 ORPHA:3472 OMIM:150250 ORPHA:503 OMIM:219000 OMIM:612938 OMIM:228900 OMIM:129500 ORPHA:189 ORPHA:373 OMIM:312870 ORPHA:2662 OMIM:301026 OMIM:616029 OMIM:261990 ORPHA:2438 ORPHA:3071 OMIM:309590 ORPHA:96191 OMIM:218330 OMIM:614099 ORPHA:63446 ORPHA:464 ORPHA:3144 OMIM:226730 OMIM:611816 ORPHA:420561 OMIM:135500 OMIM:618658 OMIM:616728 ORPHA:477993 ORPHA:261323 ORPHA:89838 OMIM:131960 ORPHA:79404 ORPHA:235 ORPHA:1662 OMIM:161200 OMIM:212780 ORPHA:2273 ORPHA:1596 OMIM:234050 ORPHA:2228 OMIM:189500 OMIM:613573 OMIM:618853 OMIM:224230 ORPHA:140908 OMIM:611377 OMIM:186500 OMIM:616028 OMIM:102500 OMIM:602875 OMIM:117550 OMIM:308050 OMIM:619075 ORPHA:544488 OMIM:300209 OMIM:301056 ORPHA:247262 OMIM:300868 OMIM:618580 OMIM:619356 ORPHA:2059 ORPHA:280633 OMIM:614749 OMIM:239300 ORPHA:257 OMIM:614813 OMIM:264090 ORPHA:3455 OMIM:617396 OMIM:305600 OMIM:617450 ORPHA:2701 ORPHA:457279 OMIM:619539 ORPHA:2658 OMIM:611553 OMIM:251255 OMIM:614814 OMIM:616975 ORPHA:1234 OMIM:263650 OMIM:300978 OMIM:113000 OMIM:268310 ORPHA:192 OMIM:610644 OMIM:206800 OMIM:604377 OMIM:618106 ORPHA:48652 OMIM:606232 ORPHA:240 OMIM:619314 OMIM:612289 OMIM:619293 OMIM:181600 ORPHA:384 OMIM:616938 OMIM:615866 OMIM:114290 OMIM:619312 OMIM:614261 OMIM:220500 ORPHA:3138 ORPHA:238578 ORPHA:2753 ORPHA:488642 OMIM:113620 OMIM:619470 OMIM:106260 OMIM:129400 OMIM:618454 OMIM:300210 OMIM:200110 OMIM:251300 OMIM:619648 OMIM:257980 OMIM:224750 OMIM:228930 OMIM:276820 ORPHA:3042 OMIM:306955 OMIM:275210 OMIM:619522 OMIM:618619
 

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