Human Phenotype Ontology 
Grandparent Node:
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Abnormal hair morphology (HP:0001595)help
Parent Node:
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obsolete Abnormality of hair density (HP:0011357)help
..Starting node
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Sparse hair (HP:0008070)help
Term ID: 8070
Name: Sparse hair
Synonym: Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth; Thin, sparse hair
Definition: Reduced density of hairs.
Comments:
Reference: HP:0008070
Genes and Diseases:
 
       Child Nodes:
........expandSparse eyelashes (HP:0000653) help
................... HP:0007776 Sparse lower eyelashes
................... HP:0040050 Sparse upper eyelashes
........expandSparse scalp hair (HP:0002209) help
................... HP:0004768 Sparse anterior scalp hair
........expandSparse axillary hair (HP:0002215) help
........expandSparse pubic hair (HP:0002225) help
........expandSparse body hair (HP:0002231) help
........expandSparse facial hair (HP:0007464) help

 Sister Nodes: 
..expandThick hair (HP:0100874) 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:0008070HP:0008070Sparse hair0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0008070HP:0008070Sparse hair0ABCA12 CL E G H2615414637ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent130
HP:0008070HP:0008070Sparse hair0ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndrome11
HP:0008070HP:0008070Sparse hair0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndrome1
HP:0008070HP:0008070Sparse hair0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0008070HP:0008070Sparse hair0AHSG CL E G H197349ORPHA:2850Alopecia-intellectual disability syndrome5
HP:0008070HP:0008070Sparse hair0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0008070HP:0008070Sparse hair0ALOX12B CL E G H242430ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent75
HP:0008070HP:0008070Sparse hair0ALOXE3 CL E G H5934413743ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent63
HP:0008070HP:0008070Sparse hair0ALX1 CL E G H80921494OMIM:613456Frontonasal dysplasia 35
HP:0008070HP:0008070Sparse hair0ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome5
HP:0008070HP:0008070Sparse hair0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2.132
HP:0008070HP:0008070Sparse hair0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040282 - Frequent2
HP:0008070HP:0008070Sparse hair0ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0008070HP:0008070Sparse hair0ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia65
HP:0008070HP:0008070Sparse hair0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0008070HP:0008070Sparse hair0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndrome8
HP:0008070HP:0008070Sparse hair0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0008070HP:0008070Sparse hair0APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0008070HP:0008070Sparse hair0APCDD1 CL E G H14749515718OMIM:605389Hypotrichosis 1HP:0040280 - ObligateHP:0011463 - Childhood onset1
HP:0008070HP:0008070Sparse hair0APCDD1 CL E G H14749515718ORPHA:55654Hypotrichosis simplexHP:0040282 - Frequent1
HP:0008070HP:0008070Sparse hair0AR CL E G H367644OMIM:300068Androgen insensitivity syndrome125
HP:0008070HP:0008070Sparse hair0AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndrome125
HP:0008070HP:0008070Sparse hair0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent147
HP:0008070HP:0008070Sparse hair0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0008070HP:0008070Sparse hair0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0008070HP:0008070Sparse hair0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0008070HP:0008070Sparse hair0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0008070HP:0008070Sparse hair0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0008070HP:0008070Sparse hair0ASPRV1 CL E G H15151626321ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent1
HP:0008070HP:0008070Sparse hair0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0008070HP:0008070Sparse hair0ATP2B1 CL E G H490814OMIM:619910
HP:0008070HP:0008070Sparse hair0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0008070HP:0008070Sparse hair0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0008070HP:0008070Sparse hair0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
HP:0008070HP:0008070Sparse hair0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0008070HP:0008070Sparse hair0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0008070HP:0008070Sparse hair0ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040281 - Very frequent192
HP:0008070HP:0008070Sparse hair0ATP7A CL E G H538869OMIM:309400Menkes disease.192
HP:0008070HP:0008070Sparse hair0ATR CL E G H545882ORPHA:808Seckel syndrome168
HP:0008070HP:0008070Sparse hair0ATRIP CL E G H8412633499ORPHA:808Seckel syndrome1
HP:0008070HP:0008070Sparse hair0ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0008070HP:0008070Sparse hair0AXIN2 CL E G H8313904OMIM:608615OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS435
HP:0008070HP:0008070Sparse hair0AXL CL E G H558905OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0008070HP:0008070Sparse hair0B3GALT6 CL E G H12679217978OMIM:615349Ehlers-Danlos syndrome, spondylodysplastic type, 2.38
HP:0008070HP:0008070Sparse hair0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0008070HP:0008070Sparse hair0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome29
HP:0008070HP:0008070Sparse hair0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0008070HP:0008070Sparse hair0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome22
HP:0008070HP:0008070Sparse hair0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome.17
HP:0008070HP:0008070Sparse hair0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0008070HP:0008070Sparse hair0BLM CL E G H6411058ORPHA:125Bloom syndrome314
HP:0008070HP:0008070Sparse hair0BMP15 CL E G H92101068ORPHA:24346,XX gonadal dysgenesis16
HP:0008070HP:0008070Sparse hair0BNC1 CL E G H6461081ORPHA:24346,XX gonadal dysgenesis
HP:0008070HP:0008070Sparse hair0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0008070HP:0008070Sparse hair0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0008070HP:0008070Sparse hair0BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0008070HP:0008070Sparse hair0BRAF CL E G H6731097ORPHA:840Syringocystadenoma papilliferum276
HP:0008070HP:0008070Sparse hair0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S.5769
HP:0008070HP:0008070Sparse hair0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040281 - Very frequent7
HP:0008070HP:0008070Sparse hair0C18ORF32 CL E G H49766131690OMIM:619985
HP:0008070HP:0008070Sparse hair0CACNA1C CL E G H7751390OMIM:620029572
HP:0008070HP:0008070Sparse hair0CACNA1G CL E G H89131394OMIM:618087Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits.32
HP:0008070HP:0008070Sparse hair0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0008070HP:0008070Sparse hair0CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent85
HP:0008070HP:0008070Sparse hair0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0008070HP:0008070Sparse hair0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0008070HP:0008070Sparse hair0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0008070HP:0008070Sparse hair0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.317
HP:0008070HP:0008070Sparse hair0CBS CL E G H8751550ORPHA:394Classic homocystinuria242
HP:0008070HP:0008070Sparse hair0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndrome147
HP:0008070HP:0008070Sparse hair0CCDC141 CL E G H28502526821OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0008070HP:0008070Sparse hair0CDC42BPB CL E G H95781738OMIM:619841
HP:0008070HP:0008070Sparse hair0CDH1 CL E G H9991748OMIM:119580Blepharocheilodontic syndrome 1.1003
HP:0008070HP:0008070Sparse hair0CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0008070HP:0008070Sparse hair0CDH3 CL E G H10011762OMIM:225280Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome87
HP:0008070HP:0008070Sparse hair0CDH3 CL E G H10011762ORPHA:1897EEM syndrome87
HP:0008070HP:0008070Sparse hair0CDH3 CL E G H10011762ORPHA:1573Hypotrichosis with juvenile macular degeneration87
HP:0008070HP:0008070Sparse hair0CDH3 CL E G H10011762OMIM:601553Hypotrichosis, congenital, with juvenile macular dystrophy87
HP:0008070HP:0008070Sparse hair0CDSN CL E G H10411802OMIM:146520Hypotrichosis 27
HP:0008070HP:0008070Sparse hair0CDSN CL E G H10411802ORPHA:90368Hypotrichosis simplex of the scalp7
HP:0008070HP:0008070Sparse hair0CENPE CL E G H10621856ORPHA:808Seckel syndrome20
HP:0008070HP:0008070Sparse hair0CENPJ CL E G H5583517272ORPHA:808Seckel syndrome161
HP:0008070HP:0008070Sparse hair0CEP152 CL E G H2299529298ORPHA:808Seckel syndrome146
HP:0008070HP:0008070Sparse hair0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0008070HP:0008070Sparse hair0CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadism515
HP:0008070HP:0008070Sparse hair0CKAP2L CL E G H15046826877OMIM:272440Filippi syndromeHP:0040283 - Occasional7
HP:0008070HP:0008070Sparse hair0CLDN1 CL E G H90762032OMIM:607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis.11
HP:0008070HP:0008070Sparse hair0CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndrome11
HP:0008070HP:0008070Sparse hair0CLMP CL E G H7982724039ORPHA:2301Congenital short bowel syndromeHP:0040282 - Frequent7
HP:0008070HP:0008070Sparse hair0COL11A1 CL E G H13012186ORPHA:560Marshall syndromeHP:0040282 - Frequent215
HP:0008070HP:0008070Sparse hair0COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosa129
HP:0008070HP:0008070Sparse hair0COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosa129
HP:0008070HP:0008070Sparse hair0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0008070HP:0008070Sparse hair0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0008070HP:0008070Sparse hair0CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent
HP:0008070HP:0008070Sparse hair0CST6 CL E G H14742478OMIM:618535Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0008070HP:0008070Sparse hair0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts.160
HP:0008070HP:0008070Sparse hair0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent160
HP:0008070HP:0008070Sparse hair0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0008070HP:0008070Sparse hair0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0008070HP:0008070Sparse hair0CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency2
HP:0008070HP:0008070Sparse hair0CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency53
HP:0008070HP:0008070Sparse hair0CYP4F22 CL E G H12641026820ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent54
HP:0008070HP:0008070Sparse hair0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome.87
HP:0008070HP:0008070Sparse hair0DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0008070HP:0008070Sparse hair0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent65
HP:0008070HP:0008070Sparse hair0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked65
HP:0008070HP:0008070Sparse hair0DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndrome65
HP:0008070HP:0008070Sparse hair0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent9
HP:0008070HP:0008070Sparse hair0DLX4 CL E G H17482917OMIM:616788Orofacial cleft 151
HP:0008070HP:0008070Sparse hair0DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesis1
HP:0008070HP:0008070Sparse hair0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:0008070HP:0008070Sparse hair0DNMT3A CL E G H17882978OMIM:618724HEYN-SPROUL-JACKSON SYNDROME; HESJAS44
HP:0008070HP:0008070Sparse hair0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent18
HP:0008070HP:0008070Sparse hair0DOLK CL E G H2284523406OMIM:610768Congenital disorder of glycosylation, type Im55
HP:0008070HP:0008070Sparse hair0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0008070HP:0008070Sparse hair0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0008070HP:0008070Sparse hair0DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome3
HP:0008070HP:0008070Sparse hair0DPH1 CL E G H18013003OMIM:616901Developmental delay with short stature, dysmorphic features, and sparse hair.3
HP:0008070HP:0008070Sparse hair0DPH2 CL E G H18023004OMIM:620062
HP:0008070HP:0008070Sparse hair0DPH5 CL E G H5161124270OMIM:620070
HP:0008070HP:0008070Sparse hair0DSC3 CL E G H18253037OMIM:613102HYPOTRICHOSIS AND RECURRENT SKIN VESICLES2
HP:0008070HP:0008070Sparse hair0DSG1 CL E G H18283048OMIM:615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige.16
HP:0008070HP:0008070Sparse hair0DSG4 CL E G H14740921307OMIM:607903Hypotrichosis 663
HP:0008070HP:0008070Sparse hair0DSG4 CL E G H14740921307ORPHA:55654Hypotrichosis simplexHP:0040282 - Frequent63
HP:0008070HP:0008070Sparse hair0DSG4 CL E G H14740921307ORPHA:573MonilethrixHP:0040281 - Very frequent63
HP:0008070HP:0008070Sparse hair0DSP CL E G H18323052OMIM:607655Skin fragility-woolly hair syndrome747
HP:0008070HP:0008070Sparse hair0DUSP6 CL E G H18483072OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia4
HP:0008070HP:0008070Sparse hair0DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadism4
HP:0008070HP:0008070Sparse hair0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant.51
HP:0008070HP:0008070Sparse hair0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0008070HP:0008070Sparse hair0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0008070HP:0008070Sparse hair0EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent115
HP:0008070HP:0008070Sparse hair0EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent11
HP:0008070HP:0008070Sparse hair0EDAR CL E G H109132895ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent86
HP:0008070HP:0008070Sparse hair0EDAR CL E G H109132895OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.86
HP:0008070HP:0008070Sparse hair0EDAR CL E G H109132895OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.86
HP:0008070HP:0008070Sparse hair0EDARADD CL E G H12817814341ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent56
HP:0008070HP:0008070Sparse hair0EDARADD CL E G H12817814341OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.56
HP:0008070HP:0008070Sparse hair0EDARADD CL E G H12817814341OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0008070HP:0008070Sparse hair0EDARADD CL E G H12817814341OMIM:614940Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant.56
HP:0008070HP:0008070Sparse hair0EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0008070HP:0008070Sparse hair0EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia3
HP:0008070HP:0008070Sparse hair0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0008070HP:0008070Sparse hair0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent4
HP:0008070HP:0008070Sparse hair0EPS8L3 CL E G H7957421297OMIM:612841Hypotrichosis 5
HP:0008070HP:0008070Sparse hair0EPS8L3 CL E G H7957421297ORPHA:444Marie Unna hereditary hypotrichosis
HP:0008070HP:0008070Sparse hair0ERCC2 CL E G H20683434OMIM:610756Cerebrooculofacioskeletal syndrome 2.106
HP:0008070HP:0008070Sparse hair0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0008070HP:0008070Sparse hair0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive.106
HP:0008070HP:0008070Sparse hair0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0008070HP:0008070Sparse hair0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0008070HP:0008070Sparse hair0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0008070HP:0008070Sparse hair0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0008070HP:0008070Sparse hair0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040281 - Very frequent92
HP:0008070HP:0008070Sparse hair0EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies.
HP:0008070HP:0008070Sparse hair0EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 296
HP:0008070HP:0008070Sparse hair0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0008070HP:0008070Sparse hair0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0008070HP:0008070Sparse hair0FAS CL E G H35511920ORPHA:3437Vogt-Koyanagi-Harada disease59
HP:0008070HP:0008070Sparse hair0FAT4 CL E G H7963323109ORPHA:2136Hennekam syndrome114
HP:0008070HP:0008070Sparse hair0FEZF1 CL E G H38954922788OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia2
HP:0008070HP:0008070Sparse hair0FGF17 CL E G H88223673OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia3
HP:0008070HP:0008070Sparse hair0FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadism3
HP:0008070HP:0008070Sparse hair0FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadism17
HP:0008070HP:0008070Sparse hair0FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadism172
HP:0008070HP:0008070Sparse hair0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0008070HP:0008070Sparse hair0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0008070HP:0008070Sparse hair0FLNA CL E G H23163754ORPHA:2301Congenital short bowel syndromeHP:0040282 - Frequent493
HP:0008070HP:0008070Sparse hair0FMR1 CL E G H23323775ORPHA:261483Xq27.3q28 duplication syndrome30
HP:0008070HP:0008070Sparse hair0FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis92
HP:0008070HP:0008070Sparse hair0FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia1
HP:0008070HP:0008070Sparse hair0FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiency23
HP:0008070HP:0008070Sparse hair0FSHR CL E G H24923969ORPHA:24346,XX gonadal dysgenesis50
HP:0008070HP:0008070Sparse hair0GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesis87
HP:0008070HP:0008070Sparse hair0GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 1833
HP:0008070HP:0008070Sparse hair0GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0008070HP:0008070Sparse hair0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0008070HP:0008070Sparse hair0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0008070HP:0008070Sparse hair0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:0008070HP:0008070Sparse hair0GJA1 CL E G H26974274OMIM:104100Palmoplantar keratoderma with congenital alopecia68
HP:0008070HP:0008070Sparse hair0GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness199
HP:0008070HP:0008070Sparse hair0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0008070HP:0008070Sparse hair0GJB2 CL E G H27064284ORPHA:477KID syndromeHP:0040281 - Very frequent199
HP:0008070HP:0008070Sparse hair0GJB6 CL E G H108044288OMIM:129500Clouston syndrome56
HP:0008070HP:0008070Sparse hair0GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasiaHP:0040282 - Frequent56
HP:0008070HP:0008070Sparse hair0GJB6 CL E G H108044288ORPHA:477KID syndromeHP:0040281 - Very frequent56
HP:0008070HP:0008070Sparse hair0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0008070HP:0008070Sparse hair0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0008070HP:0008070Sparse hair0GNRH1 CL E G H27964419OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia15
HP:0008070HP:0008070Sparse hair0GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadism15
HP:0008070HP:0008070Sparse hair0GNRHR CL E G H27984421OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia92
HP:0008070HP:0008070Sparse hair0GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadism92
HP:0008070HP:0008070Sparse hair0GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040283 - Occasional53
HP:0008070HP:0008070Sparse hair0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0008070HP:0008070Sparse hair0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0008070HP:0008070Sparse hair0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome
HP:0008070HP:0008070Sparse hair0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0008070HP:0008070Sparse hair0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndrome33
HP:0008070HP:0008070Sparse hair0HLA-DRA CL E G H31224947ORPHA:505Graham Little-Piccardi-Lassueur syndrome
HP:0008070HP:0008070Sparse hair0HOXC13 CL E G H32295125OMIM:614931Ectodermal dysplasia 9, Hair/nail type.3
HP:0008070HP:0008070Sparse hair0HPD CL E G H32425147ORPHA:2118HawkinsinuriaHP:0040281 - Very frequent23
HP:0008070HP:0008070Sparse hair0HR CL E G H558065172OMIM:209500Atrichia with papular lesions.106
HP:0008070HP:0008070Sparse hair0HR CL E G H558065172ORPHA:444Marie Unna hereditary hypotrichosis106
HP:0008070HP:0008070Sparse hair0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0008070HP:0008070Sparse hair0HRURF CL E G H12076613755085OMIM:146550Marie unna hereditary hypotrichosis 1.
HP:0008070HP:0008070Sparse hair0HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadism8
HP:0008070HP:0008070Sparse hair0HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome.6
HP:0008070HP:0008070Sparse hair0IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent93
HP:0008070HP:0008070Sparse hair0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0008070HP:0008070Sparse hair0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0008070HP:0008070Sparse hair0IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent11
HP:0008070HP:0008070Sparse hair0IFT43 CL E G H11275229669OMIM:614099Cranioectodermal dysplasia 3.11
HP:0008070HP:0008070Sparse hair0IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent4
HP:0008070HP:0008070Sparse hair0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to268
HP:0008070HP:0008070Sparse hair0IKBKG CL E G H85175961OMIM:300291ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID152
HP:0008070HP:0008070Sparse hair0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.HP:0003581 - Adult onset52
HP:0008070HP:0008070Sparse hair0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0008070HP:0008070Sparse hair0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0008070HP:0008070Sparse hair0ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital6
HP:0008070HP:0008070Sparse hair0ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosa124
HP:0008070HP:0008070Sparse hair0ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosa124
HP:0008070HP:0008070Sparse hair0ITGB6 CL E G H36946161ORPHA:2850Alopecia-intellectual disability syndrome8
HP:0008070HP:0008070Sparse hair0JUP CL E G H37286207ORPHA:34217Naxos disease222
HP:0008070HP:0008070Sparse hair0JUP CL E G H37286207OMIM:601214Naxos disease222
HP:0008070HP:0008070Sparse hair0KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair1
HP:0008070HP:0008070Sparse hair0KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome141
HP:0008070HP:0008070Sparse hair0KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndrome141
HP:0008070HP:0008070Sparse hair0KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndromeHP:0040281 - Very frequent11
HP:0008070HP:0008070Sparse hair0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndromeHP:0040283 - Occasional11
HP:0008070HP:0008070Sparse hair0KDF1 CL E G H12669526624ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent1
HP:0008070HP:0008070Sparse hair0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0008070HP:0008070Sparse hair0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0008070HP:0008070Sparse hair0KIFBP CL E G H2612823419ORPHA:66629Goldberg-Shprintzen megacolon syndrome
HP:0008070HP:0008070Sparse hair0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0008070HP:0008070Sparse hair0KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadism3
HP:0008070HP:0008070Sparse hair0KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadism14
HP:0008070HP:0008070Sparse hair0KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0008070HP:0008070Sparse hair0KMT2B CL E G H975715840OMIM:61993411
HP:0008070HP:0008070Sparse hair0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0008070HP:0008070Sparse hair0KRAS CL E G H38456407OMIM:615278Cardiofaciocutaneous syndrome 2.196
HP:0008070HP:0008070Sparse hair0KREMEN1 CL E G H8399917550OMIM:617392Ectodermal dysplasia 13, Hair/tooth type1
HP:0008070HP:0008070Sparse hair0KRT17 CL E G H38726427OMIM:167210Pachyonychia congenita 223
HP:0008070HP:0008070Sparse hair0KRT25 CL E G H14718330839ORPHA:170Woolly hair2
HP:0008070HP:0008070Sparse hair0KRT25 CL E G H14718330839OMIM:616760Woolly hair, autosomal recessive 32
HP:0008070HP:0008070Sparse hair0KRT71 CL E G H11280228927OMIM:615896Hypotrichosis 131
HP:0008070HP:0008070Sparse hair0KRT71 CL E G H11280228927ORPHA:170Woolly hair1
HP:0008070HP:0008070Sparse hair0KRT74 CL E G H12139128929OMIM:614929Ectodermal dysplasia 7, Hair/nail type.5
HP:0008070HP:0008070Sparse hair0KRT74 CL E G H12139128929OMIM:613981Hypotrichosis 35
HP:0008070HP:0008070Sparse hair0KRT74 CL E G H12139128929ORPHA:90368Hypotrichosis simplex of the scalp5
HP:0008070HP:0008070Sparse hair0KRT74 CL E G H12139128929ORPHA:170Woolly hair5
HP:0008070HP:0008070Sparse hair0KRT81 CL E G H38876458OMIM:158000MONILETHRIX.3
HP:0008070HP:0008070Sparse hair0KRT81 CL E G H38876458ORPHA:573MonilethrixHP:0040281 - Very frequent3
HP:0008070HP:0008070Sparse hair0KRT83 CL E G H38896460ORPHA:573MonilethrixHP:0040281 - Very frequent65
HP:0008070HP:0008070Sparse hair0KRT83 CL E G H38896460OMIM:158000MONILETHRIX.65
HP:0008070HP:0008070Sparse hair0KRT85 CL E G H38916462OMIM:602032Ectodermal dysplasia 4, Hair/nail type2
HP:0008070HP:0008070Sparse hair0KRT86 CL E G H38926463ORPHA:573MonilethrixHP:0040281 - Very frequent10
HP:0008070HP:0008070Sparse hair0KRT86 CL E G H38926463OMIM:158000MONILETHRIX.10
HP:0008070HP:0008070Sparse hair0LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosa116
HP:0008070HP:0008070Sparse hair0LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosa167
HP:0008070HP:0008070Sparse hair0LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosa135
HP:0008070HP:0008070Sparse hair0LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia9
HP:0008070HP:0008070Sparse hair0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0008070HP:0008070Sparse hair0LIG4 CL E G H39816601ORPHA:235Dubowitz syndrome88
HP:0008070HP:0008070Sparse hair0LIPH CL E G H20087918483OMIM:604379Hypotrichosis 7.12
HP:0008070HP:0008070Sparse hair0LIPH CL E G H20087918483ORPHA:55654Hypotrichosis simplexHP:0040282 - Frequent12
HP:0008070HP:0008070Sparse hair0LIPH CL E G H20087918483ORPHA:170Woolly hair12
HP:0008070HP:0008070Sparse hair0LIPN CL E G H64341823452ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent1
HP:0008070HP:0008070Sparse hair0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0008070HP:0008070Sparse hair0LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndromeHP:0040281 - Very frequent645
HP:0008070HP:0008070Sparse hair0LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia645
HP:0008070HP:0008070Sparse hair0LMNA CL E G H40006636ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent645
HP:0008070HP:0008070Sparse hair0LPAR6 CL E G H1016115520OMIM:278150Hypotrichosis 8.8
HP:0008070HP:0008070Sparse hair0LPAR6 CL E G H1016115520ORPHA:55654Hypotrichosis simplexHP:0040282 - Frequent8
HP:0008070HP:0008070Sparse hair0LPAR6 CL E G H1016115520ORPHA:170Woolly hair8
HP:0008070HP:0008070Sparse hair0LSS CL E G H40476708ORPHA:2850Alopecia-intellectual disability syndrome2
HP:0008070HP:0008070Sparse hair0LSS CL E G H40476708OMIM:618275Hypotrichosis 14.2
HP:0008070HP:0008070Sparse hair0LSS CL E G H40476708ORPHA:55654Hypotrichosis simplexHP:0040282 - Frequent2
HP:0008070HP:0008070Sparse hair0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndrome21
HP:0008070HP:0008070Sparse hair0MAF CL E G H40946776OMIM:601088Ayme-Gripp syndrome21
HP:0008070HP:0008070Sparse hair0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0008070HP:0008070Sparse hair0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0008070HP:0008070Sparse hair0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0008070HP:0008070Sparse hair0MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesis13
HP:0008070HP:0008070Sparse hair0MAP3K1 CL E G H42146848OMIM:61376246,xy sex reversal 613
HP:0008070HP:0008070Sparse hair0MAPKAPK5 CL E G H85506889OMIM:619869
HP:0008070HP:0008070Sparse hair0MARS1 CL E G H41416898OMIM:619692TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0008070HP:0008070Sparse hair0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040281 - Very frequent22
HP:0008070HP:0008070Sparse hair0MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked22
HP:0008070HP:0008070Sparse hair0MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent22
HP:0008070HP:0008070Sparse hair0MDM2 CL E G H41936973OMIM:618681LESSEL-KUBISCH SYNDROME; LSKB1
HP:0008070HP:0008070Sparse hair0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0008070HP:0008070Sparse hair0MED25 CL E G H8185728845OMIM:616449Basel-Vanagaite-Smirin-Yosef syndrome.43
HP:0008070HP:0008070Sparse hair0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0008070HP:0008070Sparse hair0MESD CL E G H2318413520OMIM:618644OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0008070HP:0008070Sparse hair0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIaHP:0040283 - Occasional39
HP:0008070HP:0008070Sparse hair0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0008070HP:0008070Sparse hair0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive.9
HP:0008070HP:0008070Sparse hair0MRPS22 CL E G H5694514508ORPHA:24346,XX gonadal dysgenesis25
HP:0008070HP:0008070Sparse hair0MSX1 CL E G H44877391OMIM:189500Witkop syndrome.12
HP:0008070HP:0008070Sparse hair0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0008070HP:0008070Sparse hair0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0008070HP:0008070Sparse hair0NECTIN1 CL E G H58189706OMIM:225060Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0008070HP:0008070Sparse hair0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040282 - Frequent4
HP:0008070HP:0008070Sparse hair0NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 17
HP:0008070HP:0008070Sparse hair0NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0008070HP:0008070Sparse hair0NF1 CL E G H47637765ORPHA:13947417q11.2 microduplication syndrome1952
HP:0008070HP:0008070Sparse hair0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0008070HP:0008070Sparse hair0NFKBIA CL E G H47927797OMIM:612132ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT.27
HP:0008070HP:0008070Sparse hair0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent27
HP:0008070HP:0008070Sparse hair0NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 127
HP:0008070HP:0008070Sparse hair0NIPAL4 CL E G H34893828018ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent60
HP:0008070HP:0008070Sparse hair0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent17
HP:0008070HP:0008070Sparse hair0NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 117
HP:0008070HP:0008070Sparse hair0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent452
HP:0008070HP:0008070Sparse hair0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent12
HP:0008070HP:0008070Sparse hair0NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesis48
HP:0008070HP:0008070Sparse hair0NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0008070HP:0008070Sparse hair0NR5A1 CL E G H25167983ORPHA:24346,XX gonadal dysgenesis38
HP:0008070HP:0008070Sparse hair0NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesis38
HP:0008070HP:0008070Sparse hair0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0008070HP:0008070Sparse hair0NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0008070HP:0008070Sparse hair0NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadism6
HP:0008070HP:0008070Sparse hair0NSRP1 CL E G H8408125305OMIM:620001
HP:0008070HP:0008070Sparse hair0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndrome84
HP:0008070HP:0008070Sparse hair0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 5HP:0040283 - Occasional84
HP:0008070HP:0008070Sparse hair0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis97
HP:0008070HP:0008070Sparse hair0NUP107 CL E G H5712229914ORPHA:24346,XX gonadal dysgenesis5
HP:0008070HP:0008070Sparse hair0NUP85 CL E G H799028734ORPHA:808Seckel syndrome
HP:0008070HP:0008070Sparse hair0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0008070HP:0008070Sparse hair0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0008070HP:0008070Sparse hair0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0008070HP:0008070Sparse hair0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0008070HP:0008070Sparse hair0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0008070HP:0008070Sparse hair0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 339
HP:0008070HP:0008070Sparse hair0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent26
HP:0008070HP:0008070Sparse hair0PARN CL E G H50738609OMIM:616353Dyskeratosis congenita, autosomal recessive 6.26
HP:0008070HP:0008070Sparse hair0PARN CL E G H50738609ORPHA:3322Hoyeraal-Hreidarsson syndrome26
HP:0008070HP:0008070Sparse hair0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0008070HP:0008070Sparse hair0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0008070HP:0008070Sparse hair0PCNT CL E G H511616068ORPHA:808Seckel syndrome531
HP:0008070HP:0008070Sparse hair0PDGFRB CL E G H51598804OMIM:601812Premature aging syndrome, Penttinen type.28
HP:0008070HP:0008070Sparse hair0PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent
HP:0008070HP:0008070Sparse hair0PERP CL E G H6406517637OMIM:619208OLMSTED SYNDROME 2; OLMS2
HP:0008070HP:0008070Sparse hair0PHF6 CL E G H8429518145ORPHA:127Borjeson-Forssman-Lehmann syndromeHP:0040281 - Very frequent29
HP:0008070HP:0008070Sparse hair0PI4KA CL E G H52978983ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040282 - Frequent11
HP:0008070HP:0008070Sparse hair0PIGL CL E G H94878966ORPHA:3474CHIME syndromeHP:0040283 - Occasional36
HP:0008070HP:0008070Sparse hair0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome.36
HP:0008070HP:0008070Sparse hair0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndromeHP:0040282 - Frequent43
HP:0008070HP:0008070Sparse hair0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndromeHP:0040282 - Frequent107
HP:0008070HP:0008070Sparse hair0PKP1 CL E G H53179023OMIM:604536ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME107
HP:0008070HP:0008070Sparse hair0PLK4 CL E G H1073311397ORPHA:808Seckel syndrome11
HP:0008070HP:0008070Sparse hair0PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome103
HP:0008070HP:0008070Sparse hair0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.HP:0003581 - Adult onset10
HP:0008070HP:0008070Sparse hair0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0008070HP:0008070Sparse hair0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040281 - Very frequent138
HP:0008070HP:0008070Sparse hair0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0008070HP:0008070Sparse hair0POLR3H CL E G H17156830349ORPHA:24346,XX gonadal dysgenesis
HP:0008070HP:0008070Sparse hair0POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 2HP:0040283 - Occasional6
HP:0008070HP:0008070Sparse hair0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0008070HP:0008070Sparse hair0PPP1CB CL E G H55009282ORPHA:2701Noonan syndrome-like disorder with loose anagen hair9
HP:0008070HP:0008070Sparse hair0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0008070HP:0008070Sparse hair0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0008070HP:0008070Sparse hair0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0008070HP:0008070Sparse hair0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0008070HP:0008070Sparse hair0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome.28
HP:0008070HP:0008070Sparse hair0PRIM1 CL E G H55579369OMIM:620005
HP:0008070HP:0008070Sparse hair0PRKD1 CL E G H55879407OMIM:617364Congenital heart defects and ectodermal dysplasia7
HP:0008070HP:0008070Sparse hair0PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadism9
HP:0008070HP:0008070Sparse hair0PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadism34
HP:0008070HP:0008070Sparse hair0PRPS1 CL E G H56319462OMIM:300661Phosphoribosylpyrophosphate synthetase superactivity49
HP:0008070HP:0008070Sparse hair0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0008070HP:0008070Sparse hair0PSMC3IP CL E G H2989317928ORPHA:24346,XX gonadal dysgenesis2
HP:0008070HP:0008070Sparse hair0PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism.6
HP:0008070HP:0008070Sparse hair0PTPN22 CL E G H261919652ORPHA:3437Vogt-Koyanagi-Harada disease3
HP:0008070HP:0008070Sparse hair0PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB.53
HP:0008070HP:0008070Sparse hair0RBBP8 CL E G H59329891ORPHA:808Seckel syndrome68
HP:0008070HP:0008070Sparse hair0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent3
HP:0008070HP:0008070Sparse hair0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040282 - Frequent445
HP:0008070HP:0008070Sparse hair0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0008070HP:0008070Sparse hair0RIN2 CL E G H5445318750OMIM:613075Macs syndrome.43
HP:0008070HP:0008070Sparse hair0RIN2 CL E G H5445318750ORPHA:217335RIN2 syndrome43
HP:0008070HP:0008070Sparse hair0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0008070HP:0008070Sparse hair0RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia.37
HP:0008070HP:0008070Sparse hair0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040281 - Very frequent37
HP:0008070HP:0008070Sparse hair0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0008070HP:0008070Sparse hair0RNF113A CL E G H773712974OMIM:300953Trichothiodystrophy 5, nonphotosensitive.3
HP:0008070HP:0008070Sparse hair0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040281 - Very frequent15
HP:0008070HP:0008070Sparse hair0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0008070HP:0008070Sparse hair0RPL21 CL E G H614410313OMIM:615885Hypotrichosis 12.1
HP:0008070HP:0008070Sparse hair0RPL21 CL E G H614410313ORPHA:55654Hypotrichosis simplexHP:0040282 - Frequent1
HP:0008070HP:0008070Sparse hair0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent77
HP:0008070HP:0008070Sparse hair0RTEL1 CL E G H5175015888ORPHA:3322Hoyeraal-Hreidarsson syndrome77
HP:0008070HP:0008070Sparse hair0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040283 - Occasional34
HP:0008070HP:0008070Sparse hair0SATB2 CL E G H2331421637OMIM:612313Glass syndrome.34
HP:0008070HP:0008070Sparse hair0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040282 - Frequent34
HP:0008070HP:0008070Sparse hair0SDR9C7 CL E G H12121429958ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent2
HP:0008070HP:0008070Sparse hair0SEC23A CL E G H1048410701ORPHA:50814Craniolenticulosutural dysplasiaHP:0040281 - Very frequent2
HP:0008070HP:0008070Sparse hair0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia.2
HP:0008070HP:0008070Sparse hair0SEMA3E CL E G H972310727OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia16
HP:0008070HP:0008070Sparse hair0SETD2 CL E G H2907218420ORPHA:821Sotos syndrome60
HP:0008070HP:0008070Sparse hair0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type49
HP:0008070HP:0008070Sparse hair0SF3B4 CL E G H1026210771ORPHA:245Nager syndrome49
HP:0008070HP:0008070Sparse hair0SHOC2 CL E G H803615454ORPHA:2701Noonan syndrome-like disorder with loose anagen hair74
HP:0008070HP:0008070Sparse hair0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0008070HP:0008070Sparse hair0SKIC2 CL E G H649910898OMIM:614602Trichohepatoenteric syndrome 2.
HP:0008070HP:0008070Sparse hair0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1.
HP:0008070HP:0008070Sparse hair0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0008070HP:0008070Sparse hair0SLC25A24 CL E G H2995720662ORPHA:2963Progeroid syndrome, Petty typeHP:0040281 - Very frequent
HP:0008070HP:0008070Sparse hair0SLC7A7 CL E G H905611065OMIM:222700Lysinuric protein intolerance.104
HP:0008070HP:0008070Sparse hair0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome.504
HP:0008070HP:0008070Sparse hair0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0008070HP:0008070Sparse hair0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0008070HP:0008070Sparse hair0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndromeHP:0040281 - Very frequent146
HP:0008070HP:0008070Sparse hair0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndrome617
HP:0008070HP:0008070Sparse hair0SMARCA4 CL E G H659711100OMIM:614609Coffin-Siris syndrome 4617
HP:0008070HP:0008070Sparse hair0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndrome87
HP:0008070HP:0008070Sparse hair0SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 3.87
HP:0008070HP:0008070Sparse hair0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndrome1
HP:0008070HP:0008070Sparse hair0SMARCC2 CL E G H660111105OMIM:618362Coffin-Siris syndrome 81
HP:0008070HP:0008070Sparse hair0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndrome
HP:0008070HP:0008070Sparse hair0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndrome47
HP:0008070HP:0008070Sparse hair0SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0008070HP:0008070Sparse hair0SNRPE CL E G H663511161OMIM:615059Hypotrichosis 11.2
HP:0008070HP:0008070Sparse hair0SNRPE CL E G H663511161ORPHA:55654Hypotrichosis simplexHP:0040282 - Frequent2
HP:0008070HP:0008070Sparse hair0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndrome14
HP:0008070HP:0008070Sparse hair0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 2714
HP:0008070HP:0008070Sparse hair0SOX18 CL E G H5434511194OMIM:607823Hypotrichosis-Lymphedema-Telangiectasia syndrome.7
HP:0008070HP:0008070Sparse hair0SOX18 CL E G H5434511194ORPHA:69735Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome7
HP:0008070HP:0008070Sparse hair0SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome.7
HP:0008070HP:0008070Sparse hair0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndrome
HP:0008070HP:0008070Sparse hair0SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesis109
HP:0008070HP:0008070Sparse hair0SPIDR CL E G H2351428971ORPHA:24346,XX gonadal dysgenesis2
HP:0008070HP:0008070Sparse hair0SPINK5 CL E G H1100515464OMIM:256500Netherton syndrome100
HP:0008070HP:0008070Sparse hair0SPINK5 CL E G H1100515464ORPHA:634Netherton syndrome100
HP:0008070HP:0008070Sparse hair0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0008070HP:0008070Sparse hair0SPRY4 CL E G H8184815533OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia5
HP:0008070HP:0008070Sparse hair0SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadism5
HP:0008070HP:0008070Sparse hair0SRA1 CL E G H1001111281OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0008070HP:0008070Sparse hair0SREBF1 CL E G H672011289OMIM:619016IFAP SYNDROME 2; IFAP21
HP:0008070HP:0008070Sparse hair0SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary1
HP:0008070HP:0008070Sparse hair0SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesis23
HP:0008070HP:0008070Sparse hair0ST14 CL E G H676811344OMIM:602400Ichthyosis, congenital, autosomal recessive 114
HP:0008070HP:0008070Sparse hair0ST14 CL E G H676811344ORPHA:91132Ichthyosis-hypotrichosis syndromeHP:0040281 - Very frequent4
HP:0008070HP:0008070Sparse hair0STING1 CL E G H34006127962OMIM:615934STING-associated vasculopathy, infantile-onset
HP:0008070HP:0008070Sparse hair0SULT2B1 CL E G H682011459ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent4
HP:0008070HP:0008070Sparse hair0TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadism6
HP:0008070HP:0008070Sparse hair0TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadism34
HP:0008070HP:0008070Sparse hair0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0008070HP:0008070Sparse hair0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0008070HP:0008070Sparse hair0TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0008070HP:0008070Sparse hair0TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome140
HP:0008070HP:0008070Sparse hair0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent48
HP:0008070HP:0008070Sparse hair0TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.48
HP:0008070HP:0008070Sparse hair0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent238
HP:0008070HP:0008070Sparse hair0TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.238
HP:0008070HP:0008070Sparse hair0TERT CL E G H701511730ORPHA:3322Hoyeraal-Hreidarsson syndrome238
HP:0008070HP:0008070Sparse hair0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0008070HP:0008070Sparse hair0TGM1 CL E G H705111777ORPHA:100976Bathing suit ichthyosisHP:0040283 - Occasional98
HP:0008070HP:0008070Sparse hair0TGM1 CL E G H705111777OMIM:242300Ichthyosis, congenital, autosomal recessive 1HP:0040283 - Occasional98
HP:0008070HP:0008070Sparse hair0TGM1 CL E G H705111777ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent98
HP:0008070HP:0008070Sparse hair0THUMPD1 CL E G H5562323807OMIM:619989
HP:0008070HP:0008070Sparse hair0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent60
HP:0008070HP:0008070Sparse hair0TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.60
HP:0008070HP:0008070Sparse hair0TINF2 CL E G H2627711824ORPHA:3322Hoyeraal-Hreidarsson syndrome60
HP:0008070HP:0008070Sparse hair0TINF2 CL E G H2627711824OMIM:268130Revesz syndrome.60
HP:0008070HP:0008070Sparse hair0TMEM147 CL E G H1043030414OMIM:620075
HP:0008070HP:0008070Sparse hair0TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0008070HP:0008070Sparse hair0TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0008070HP:0008070Sparse hair0TP63 CL E G H862615979ORPHA:978ADULT syndrome140
HP:0008070HP:0008070Sparse hair0TP63 CL E G H862615979OMIM:103285Adult syndrome140
HP:0008070HP:0008070Sparse hair0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate140
HP:0008070HP:0008070Sparse hair0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0008070HP:0008070Sparse hair0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0008070HP:0008070Sparse hair0TRAF6 CL E G H718912036ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent
HP:0008070HP:0008070Sparse hair0TRAIP CL E G H1029330764ORPHA:808Seckel syndrome2
HP:0008070HP:0008070Sparse hair0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0008070HP:0008070Sparse hair0TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3HP:0040281 - Very frequent171
HP:0008070HP:0008070Sparse hair0TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2171
HP:0008070HP:0008070Sparse hair0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171
HP:0008070HP:0008070Sparse hair0TRPS1 CL E G H722712340OMIM:190351Trichorhinophalangeal syndrome, type III.171
HP:0008070HP:0008070Sparse hair0TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent151
HP:0008070HP:0008070Sparse hair0TRPV3 CL E G H16251418084OMIM:614594Palmoplantar keratoderma, mutilating, with periorificial keratoticplaquesHP:0040283 - Occasional151
HP:0008070HP:0008070Sparse hair0TSPEAR CL E G H540841268OMIM:618180Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis39
HP:0008070HP:0008070Sparse hair0TSR2 CL E G H9012125455OMIM:300946Diamond-Blackfan anemia 14 with mandibulofacial dysostosis1
HP:0008070HP:0008070Sparse hair0TTC7A CL E G H5721719750ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040282 - Frequent26
HP:0008070HP:0008070Sparse hair0TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndromeHP:0040281 - Very frequent7
HP:0008070HP:0008070Sparse hair0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0008070HP:0008070Sparse hair0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0008070HP:0008070Sparse hair0TWIST2 CL E G H11758120670OMIM:227260FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD37
HP:0008070HP:0008070Sparse hair0TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type IIIHP:0040281 - Very frequent7
HP:0008070HP:0008070Sparse hair0TYMS CL E G H729812441OMIM:6200401
HP:0008070HP:0008070Sparse hair0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent1
HP:0008070HP:0008070Sparse hair0UBA2 CL E G H1005430661OMIM:619959
HP:0008070HP:0008070Sparse hair0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0008070HP:0008070Sparse hair0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome25
HP:0008070HP:0008070Sparse hair0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent8
HP:0008070HP:0008070Sparse hair0USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0008070HP:0008070Sparse hair0USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0008070HP:0008070Sparse hair0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0008070HP:0008070Sparse hair0VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0008070HP:0008070Sparse hair0WDR11 CL E G H5571713831OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia10
HP:0008070HP:0008070Sparse hair0WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadism10
HP:0008070HP:0008070Sparse hair0WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent95
HP:0008070HP:0008070Sparse hair0WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent136
HP:0008070HP:0008070Sparse hair0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0008070HP:0008070Sparse hair0WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly.136
HP:0008070HP:0008070Sparse hair0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0008070HP:0008070Sparse hair0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia.71
HP:0008070HP:0008070Sparse hair0WNT10A CL E G H8032613829ORPHA:50944Schöpf-Schulz-Passarge syndromeHP:0040281 - Very frequent71
HP:0008070HP:0008070Sparse hair0WNT10A CL E G H8032613829OMIM:224750Schopf-Schulz-Passarge syndrome.71
HP:0008070HP:0008070Sparse hair0WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 4HP:0040283 - Occasional71
HP:0008070HP:0008070Sparse hair0WNT10B CL E G H748012775OMIM:617073Tooth agenesis, selective, 8HP:0040283 - Occasional4
HP:0008070HP:0008070Sparse hair0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040282 - Frequent40
HP:0008070HP:0008070Sparse hair0WRN CL E G H748612791ORPHA:902Werner syndrome310
HP:0008070HP:0008070Sparse hair0WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesis177
HP:0008070HP:0008070Sparse hair0WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesis149
HP:0008070HP:0008070Sparse hair0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction.9
HP:0008070HP:0008070Sparse hair0XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent14
HP:0008070HP:0008070Sparse hair0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0008070HP:0008070Sparse hair0ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesis31
HP:0008070HP:0008070Sparse hair0ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy.83
HP:0008070HP:0008070Sparse hair0ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent83
HP:0008070HP:0008070Sparse hair0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal83
HP:0008070HP:0008070Sparse hair0ZSWIM7 CL E G H12515026993ORPHA:24346,XX gonadal dysgenesis
HP:0008070HP:0002209Sparse scalp hair1ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent11
HP:0008070HP:0002215Sparse axillary hair1ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndromeHP:0040283 - Occasional1
HP:0008070HP:0002209Sparse scalp hair1ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040284 - Very rare47
HP:0008070HP:0002231Sparse body hair1AHSG CL E G H197349ORPHA:2850Alopecia-intellectual disability syndromeHP:0040281 - Very frequent5
HP:0008070HP:0002209Sparse scalp hair1AHSG CL E G H197349ORPHA:2850Alopecia-intellectual disability syndromeHP:0040281 - Very frequent5
HP:0008070HP:0000653Sparse eyelashes1ALX1 CL E G H80921494OMIM:613456Frontonasal dysplasia 3.5
HP:0008070HP:0000653Sparse eyelashes1ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndromeHP:0040282 - Frequent5
HP:0008070HP:0000653Sparse eyelashes1ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2.132
HP:0008070HP:0002225Sparse pubic hair1ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia.65
HP:0008070HP:0000653Sparse eyelashes1ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040281 - Very frequent8
HP:0008070HP:0000653Sparse eyelashes1ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0008070HP:0002209Sparse scalp hair1APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0008070HP:0002215Sparse axillary hair1APCDD1 CL E G H14749515718OMIM:605389Hypotrichosis 1HP:0040284 - Very rare1
HP:0008070HP:0002225Sparse pubic hair1APCDD1 CL E G H14749515718OMIM:605389Hypotrichosis 1HP:0040284 - Very rare1
HP:0008070HP:0002231Sparse body hair1APCDD1 CL E G H14749515718OMIM:605389Hypotrichosis 1.1
HP:0008070HP:0000653Sparse eyelashes1APCDD1 CL E G H14749515718OMIM:605389Hypotrichosis 1HP:0040284 - Very rare1
HP:0008070HP:0000653Sparse eyelashes1APCDD1 CL E G H14749515718ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent1
HP:0008070HP:0002209Sparse scalp hair1APCDD1 CL E G H14749515718ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent1
HP:0008070HP:0002231Sparse body hair1APCDD1 CL E G H14749515718ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent1
HP:0008070HP:0002215Sparse axillary hair1AR CL E G H367644OMIM:300068Androgen insensitivity syndrome.125
HP:0008070HP:0002225Sparse pubic hair1AR CL E G H367644OMIM:300068Androgen insensitivity syndrome.125
HP:0008070HP:0002225Sparse pubic hair1AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndromeHP:0040282 - Frequent125
HP:0008070HP:0002215Sparse axillary hair1AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndromeHP:0040282 - Frequent125
HP:0008070HP:0002209Sparse scalp hair1ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0008070HP:0002209Sparse scalp hair1ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0008070HP:0002209Sparse scalp hair1ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0008070HP:0002209Sparse scalp hair1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0008070HP:0002209Sparse scalp hair1ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0008070HP:0002209Sparse scalp hair1ATR CL E G H545882ORPHA:808Seckel syndromeHP:0040282 - Frequent168
HP:0008070HP:0002209Sparse scalp hair1ATRIP CL E G H8412633499ORPHA:808Seckel syndromeHP:0040282 - Frequent1
HP:0008070HP:0002209Sparse scalp hair1ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0008070HP:0002209Sparse scalp hair1AXIN2 CL E G H8313904OMIM:608615OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS435
HP:0008070HP:0002215Sparse axillary hair1AXIN2 CL E G H8313904OMIM:608615OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS435
HP:0008070HP:0002231Sparse body hair1AXIN2 CL E G H8313904OMIM:608615OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS435
HP:0008070HP:0002225Sparse pubic hair1AXL CL E G H558905OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0008070HP:0002215Sparse axillary hair1AXL CL E G H558905OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0008070HP:0002209Sparse scalp hair1B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0008070HP:0000653Sparse eyelashes1B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent29
HP:0008070HP:0002209Sparse scalp hair1B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent29
HP:0008070HP:0002209Sparse scalp hair1B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 1.29
HP:0008070HP:0000653Sparse eyelashes1BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome.22
HP:0008070HP:0002209Sparse scalp hair1BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome22
HP:0008070HP:0002209Sparse scalp hair1BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0008070HP:0000653Sparse eyelashes1BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040283 - Occasional314
HP:0008070HP:0002225Sparse pubic hair1BMP15 CL E G H92101068ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent16
HP:0008070HP:0002225Sparse pubic hair1BNC1 CL E G H6461081ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent
HP:0008070HP:0002209Sparse scalp hair1BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0008070HP:0002209Sparse scalp hair1BRAF CL E G H6731097ORPHA:840Syringocystadenoma papilliferumHP:0040281 - Very frequent276
HP:0008070HP:0002209Sparse scalp hair1CACNA1C CL E G H7751390OMIM:620029572
HP:0008070HP:0002209Sparse scalp hair1CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0008070HP:0002209Sparse scalp hair1CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0008070HP:0002209Sparse scalp hair1CBS CL E G H8751550ORPHA:394Classic homocystinuriaHP:0040282 - Frequent242
HP:0008070HP:0002215Sparse axillary hair1CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndromeHP:0040283 - Occasional147
HP:0008070HP:0002215Sparse axillary hair1CCDC141 CL E G H28502526821OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0008070HP:0002225Sparse pubic hair1CCDC141 CL E G H28502526821OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0008070HP:0002209Sparse scalp hair1CDC42BPB CL E G H95781738OMIM:619841
HP:0008070HP:0002209Sparse scalp hair1CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0008070HP:0000653Sparse eyelashes1CDH3 CL E G H10011762OMIM:225280Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome.87
HP:0008070HP:0002209Sparse scalp hair1CDH3 CL E G H10011762OMIM:225280Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome.87
HP:0008070HP:0002209Sparse scalp hair1CDH3 CL E G H10011762ORPHA:1897EEM syndromeHP:0040281 - Very frequent87
HP:0008070HP:0002231Sparse body hair1CDH3 CL E G H10011762ORPHA:1897EEM syndromeHP:0040281 - Very frequent87
HP:0008070HP:0002209Sparse scalp hair1CDH3 CL E G H10011762ORPHA:1573Hypotrichosis with juvenile macular degenerationHP:0040281 - Very frequent87
HP:0008070HP:0002209Sparse scalp hair1CDSN CL E G H10411802OMIM:146520Hypotrichosis 2.7
HP:0008070HP:0002209Sparse scalp hair1CDSN CL E G H10411802ORPHA:90368Hypotrichosis simplex of the scalp7
HP:0008070HP:0002209Sparse scalp hair1CENPE CL E G H10621856ORPHA:808Seckel syndromeHP:0040282 - Frequent20
HP:0008070HP:0002209Sparse scalp hair1CENPJ CL E G H5583517272ORPHA:808Seckel syndromeHP:0040282 - Frequent161
HP:0008070HP:0002209Sparse scalp hair1CEP152 CL E G H2299529298ORPHA:808Seckel syndromeHP:0040282 - Frequent146
HP:0008070HP:0002231Sparse body hair1CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent515
HP:0008070HP:0000653Sparse eyelashes1CLDN1 CL E G H90762032OMIM:607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis.11
HP:0008070HP:0000653Sparse eyelashes1CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndromeHP:0040281 - Very frequent11
HP:0008070HP:0002209Sparse scalp hair1CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndromeHP:0040281 - Very frequent11
HP:0008070HP:0002231Sparse body hair1CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndromeHP:0040281 - Very frequent11
HP:0008070HP:0000653Sparse eyelashes1COL11A1 CL E G H13012186ORPHA:560Marshall syndromeHP:0040283 - Occasional215
HP:0008070HP:0002231Sparse body hair1COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent129
HP:0008070HP:0002225Sparse pubic hair1COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent129
HP:0008070HP:0002215Sparse axillary hair1COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent129
HP:0008070HP:0002209Sparse scalp hair1CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0008070HP:0000653Sparse eyelashes1CST6 CL E G H14742478OMIM:618535Ectodermal dysplasia 15, Hypohidrotic/hair type.
HP:0008070HP:0002209Sparse scalp hair1CST6 CL E G H14742478OMIM:618535Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0008070HP:0002231Sparse body hair1CST6 CL E G H14742478OMIM:618535Ectodermal dysplasia 15, Hypohidrotic/hair type.
HP:0008070HP:0002231Sparse body hair1CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040283 - Occasional50
HP:0008070HP:0000653Sparse eyelashes1CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0008070HP:0002231Sparse body hair1CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent2
HP:0008070HP:0002215Sparse axillary hair1CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent2
HP:0008070HP:0002225Sparse pubic hair1CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent2
HP:0008070HP:0002215Sparse axillary hair1CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent53
HP:0008070HP:0002231Sparse body hair1CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent53
HP:0008070HP:0002225Sparse pubic hair1CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent53
HP:0008070HP:0002225Sparse pubic hair1DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0008070HP:0002215Sparse axillary hair1DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0008070HP:0000653Sparse eyelashes1DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0008070HP:0002209Sparse scalp hair1DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent65
HP:0008070HP:0000653Sparse eyelashes1DLX4 CL E G H17482917OMIM:616788Orofacial cleft 151
HP:0008070HP:0002225Sparse pubic hair1DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent1
HP:0008070HP:0002215Sparse axillary hair1DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent1
HP:0008070HP:0000653Sparse eyelashes1DOLK CL E G H2284523406OMIM:610768Congenital disorder of glycosylation, type Im.55
HP:0008070HP:0002209Sparse scalp hair1DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0008070HP:0002209Sparse scalp hair1DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0008070HP:0002209Sparse scalp hair1DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndromeHP:0040281 - Very frequent3
HP:0008070HP:0000653Sparse eyelashes1DPH1 CL E G H18013003OMIM:616901Developmental delay with short stature, dysmorphic features, and sparse hair.3
HP:0008070HP:0002209Sparse scalp hair1DPH2 CL E G H18023004OMIM:620062
HP:0008070HP:0000653Sparse eyelashes1DPH5 CL E G H5161124270OMIM:620070
HP:0008070HP:0000653Sparse eyelashes1DSC3 CL E G H18253037OMIM:613102HYPOTRICHOSIS AND RECURRENT SKIN VESICLES2
HP:0008070HP:0002215Sparse axillary hair1DSC3 CL E G H18253037OMIM:613102HYPOTRICHOSIS AND RECURRENT SKIN VESICLES2
HP:0008070HP:0002209Sparse scalp hair1DSC3 CL E G H18253037OMIM:613102HYPOTRICHOSIS AND RECURRENT SKIN VESICLES2
HP:0008070HP:0002231Sparse body hair1DSC3 CL E G H18253037OMIM:613102HYPOTRICHOSIS AND RECURRENT SKIN VESICLES2
HP:0008070HP:0000653Sparse eyelashes1DSG4 CL E G H14740921307OMIM:607903Hypotrichosis 6.63
HP:0008070HP:0002231Sparse body hair1DSG4 CL E G H14740921307ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent63
HP:0008070HP:0000653Sparse eyelashes1DSG4 CL E G H14740921307ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent63
HP:0008070HP:0002209Sparse scalp hair1DSG4 CL E G H14740921307ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent63
HP:0008070HP:0000653Sparse eyelashes1DSP CL E G H18323052OMIM:607655Skin fragility-woolly hair syndrome.747
HP:0008070HP:0002215Sparse axillary hair1DUSP6 CL E G H18483072OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.4
HP:0008070HP:0002225Sparse pubic hair1DUSP6 CL E G H18483072OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.4
HP:0008070HP:0002231Sparse body hair1DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent4
HP:0008070HP:0000653Sparse eyelashes1EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant.51
HP:0008070HP:0000653Sparse eyelashes1EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0008070HP:0002231Sparse body hair1EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked115
HP:0008070HP:0000653Sparse eyelashes1EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0008070HP:0002231Sparse body hair1EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent115
HP:0008070HP:0002231Sparse body hair1EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent11
HP:0008070HP:0002231Sparse body hair1EDAR CL E G H109132895ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent86
HP:0008070HP:0000653Sparse eyelashes1EDAR CL E G H109132895OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.86
HP:0008070HP:0000653Sparse eyelashes1EDAR CL E G H109132895OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.86
HP:0008070HP:0002231Sparse body hair1EDARADD CL E G H12817814341ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent56
HP:0008070HP:0000653Sparse eyelashes1EDARADD CL E G H12817814341OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.56
HP:0008070HP:0000653Sparse eyelashes1EDARADD CL E G H12817814341OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0008070HP:0000653Sparse eyelashes1EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0008070HP:0002209Sparse scalp hair1EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0008070HP:0002231Sparse body hair1EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0008070HP:0000653Sparse eyelashes1EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia.3
HP:0008070HP:0002209Sparse scalp hair1EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0008070HP:0000653Sparse eyelashes1EPS8L3 CL E G H7957421297OMIM:612841Hypotrichosis 5.
HP:0008070HP:0002209Sparse scalp hair1EPS8L3 CL E G H7957421297ORPHA:444Marie Unna hereditary hypotrichosisHP:0040281 - Very frequent
HP:0008070HP:0002209Sparse scalp hair1ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0008070HP:0002209Sparse scalp hair1ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0008070HP:0002209Sparse scalp hair1EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040281 - Very frequent96
HP:0008070HP:0002209Sparse scalp hair1FAS CL E G H35511920ORPHA:3437Vogt-Koyanagi-Harada diseaseHP:0040281 - Very frequent59
HP:0008070HP:0002215Sparse axillary hair1FAT4 CL E G H7963323109ORPHA:2136Hennekam syndromeHP:0040283 - Occasional114
HP:0008070HP:0002215Sparse axillary hair1FEZF1 CL E G H38954922788OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.2
HP:0008070HP:0002225Sparse pubic hair1FEZF1 CL E G H38954922788OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.2
HP:0008070HP:0002215Sparse axillary hair1FGF17 CL E G H88223673OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.3
HP:0008070HP:0002225Sparse pubic hair1FGF17 CL E G H88223673OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.3
HP:0008070HP:0002231Sparse body hair1FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0008070HP:0002231Sparse body hair1FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent17
HP:0008070HP:0002231Sparse body hair1FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent172
HP:0008070HP:0002209Sparse scalp hair1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0008070HP:0002209Sparse scalp hair1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0008070HP:0000653Sparse eyelashes1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0008070HP:0000653Sparse eyelashes1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0008070HP:0002231Sparse body hair1FMR1 CL E G H23323775ORPHA:261483Xq27.3q28 duplication syndromeHP:0040282 - Frequent30
HP:0008070HP:0002225Sparse pubic hair1FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis.92
HP:0008070HP:0002225Sparse pubic hair1FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiencyHP:0040281 - Very frequent23
HP:0008070HP:0002215Sparse axillary hair1FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiencyHP:0040281 - Very frequent23
HP:0008070HP:0002225Sparse pubic hair1FSHR CL E G H24923969ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent50
HP:0008070HP:0002215Sparse axillary hair1GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent87
HP:0008070HP:0002225Sparse pubic hair1GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent87
HP:0008070HP:0002209Sparse scalp hair1GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0008070HP:0004528Generalized hypotrichosis1GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0008070HP:0000653Sparse eyelashes1GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0008070HP:0000653Sparse eyelashes1GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0008070HP:0002209Sparse scalp hair1GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness199
HP:0008070HP:0000653Sparse eyelashes1GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness.199
HP:0008070HP:0000653Sparse eyelashes1GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant.199
HP:0008070HP:0000653Sparse eyelashes1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0008070HP:0000653Sparse eyelashes1GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0008070HP:0002215Sparse axillary hair1GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasiaHP:0040281 - Very frequent56
HP:0008070HP:0000653Sparse eyelashes1GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasiaHP:0040282 - Frequent56
HP:0008070HP:0002225Sparse pubic hair1GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasiaHP:0040281 - Very frequent56
HP:0008070HP:0004528Generalized hypotrichosis1GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0008070HP:0002209Sparse scalp hair1GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasiaHP:0040281 - Very frequent56
HP:0008070HP:0000653Sparse eyelashes1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0008070HP:0002209Sparse scalp hair1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0008070HP:0002225Sparse pubic hair1GNRH1 CL E G H27964419OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.15
HP:0008070HP:0002215Sparse axillary hair1GNRH1 CL E G H27964419OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.15
HP:0008070HP:0002231Sparse body hair1GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent15
HP:0008070HP:0002225Sparse pubic hair1GNRHR CL E G H27984421OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.92
HP:0008070HP:0002215Sparse axillary hair1GNRHR CL E G H27984421OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.92
HP:0008070HP:0002231Sparse body hair1GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent92
HP:0008070HP:0002209Sparse scalp hair1GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0008070HP:0002209Sparse scalp hair1GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0008070HP:0000653Sparse eyelashes1GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0008070HP:0002209Sparse scalp hair1HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040282 - Frequent33
HP:0008070HP:0002225Sparse pubic hair1HLA-DRA CL E G H31224947ORPHA:505Graham Little-Piccardi-Lassueur syndromeHP:0040281 - Very frequent
HP:0008070HP:0002209Sparse scalp hair1HLA-DRA CL E G H31224947ORPHA:505Graham Little-Piccardi-Lassueur syndromeHP:0040281 - Very frequent
HP:0008070HP:0002215Sparse axillary hair1HLA-DRA CL E G H31224947ORPHA:505Graham Little-Piccardi-Lassueur syndromeHP:0040281 - Very frequent
HP:0008070HP:0002209Sparse scalp hair1HR CL E G H558065172ORPHA:444Marie Unna hereditary hypotrichosisHP:0040281 - Very frequent106
HP:0008070HP:0000653Sparse eyelashes1HRURF CL E G H12076613755085OMIM:146550Marie unna hereditary hypotrichosis 1.
HP:0008070HP:0002231Sparse body hair1HRURF CL E G H12076613755085OMIM:146550Marie unna hereditary hypotrichosis 1.
HP:0008070HP:0002209Sparse scalp hair1HRURF CL E G H12076613755085OMIM:146550Marie unna hereditary hypotrichosis 1
HP:0008070HP:0002231Sparse body hair1HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent8
HP:0008070HP:0002209Sparse scalp hair1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0008070HP:0002209Sparse scalp hair1IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0008070HP:0002209Sparse scalp hair1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0008070HP:0000653Sparse eyelashes1IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0008070HP:0002209Sparse scalp hair1ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital.6
HP:0008070HP:0000653Sparse eyelashes1ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital.6
HP:0008070HP:0002231Sparse body hair1ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent124
HP:0008070HP:0002215Sparse axillary hair1ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent124
HP:0008070HP:0002225Sparse pubic hair1ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent124
HP:0008070HP:0002209Sparse scalp hair1ITGB6 CL E G H36946161ORPHA:2850Alopecia-intellectual disability syndromeHP:0040281 - Very frequent8
HP:0008070HP:0002231Sparse body hair1ITGB6 CL E G H36946161ORPHA:2850Alopecia-intellectual disability syndromeHP:0040281 - Very frequent8
HP:0008070HP:0002209Sparse scalp hair1JUP CL E G H37286207ORPHA:34217Naxos diseaseHP:0040282 - Frequent222
HP:0008070HP:0002231Sparse body hair1JUP CL E G H37286207OMIM:601214Naxos disease.222
HP:0008070HP:0002209Sparse scalp hair1KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair.1
HP:0008070HP:0002231Sparse body hair1KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair.1
HP:0008070HP:0000653Sparse eyelashes1KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair.1
HP:0008070HP:0002209Sparse scalp hair1KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome.141
HP:0008070HP:0002209Sparse scalp hair1KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndromeHP:0040282 - Frequent141
HP:0008070HP:0002231Sparse body hair1KDF1 CL E G H12669526624ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent1
HP:0008070HP:0002209Sparse scalp hair1KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0008070HP:0002209Sparse scalp hair1KIFBP CL E G H2612823419ORPHA:66629Goldberg-Shprintzen megacolon syndromeHP:0040283 - Occasional
HP:0008070HP:0002231Sparse body hair1KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0008070HP:0002231Sparse body hair1KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent14
HP:0008070HP:0002231Sparse body hair1KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss.5
HP:0008070HP:0000653Sparse eyelashes1KREMEN1 CL E G H8399917550OMIM:617392Ectodermal dysplasia 13, Hair/tooth type.1
HP:0008070HP:0002209Sparse scalp hair1KRT17 CL E G H38726427OMIM:167210Pachyonychia congenita 2.23
HP:0008070HP:0002231Sparse body hair1KRT25 CL E G H14718330839ORPHA:170Woolly hairHP:0040283 - Occasional2
HP:0008070HP:0000653Sparse eyelashes1KRT25 CL E G H14718330839OMIM:616760Woolly hair, autosomal recessive 32
HP:0008070HP:0002209Sparse scalp hair1KRT25 CL E G H14718330839OMIM:616760Woolly hair, autosomal recessive 32
HP:0008070HP:0000653Sparse eyelashes1KRT71 CL E G H11280228927OMIM:615896Hypotrichosis 131
HP:0008070HP:0002231Sparse body hair1KRT71 CL E G H11280228927ORPHA:170Woolly hairHP:0040283 - Occasional1
HP:0008070HP:0000653Sparse eyelashes1KRT74 CL E G H12139128929OMIM:614929Ectodermal dysplasia 7, Hair/nail type.5
HP:0008070HP:0002209Sparse scalp hair1KRT74 CL E G H12139128929OMIM:614929Ectodermal dysplasia 7, Hair/nail type5
HP:0008070HP:0002209Sparse scalp hair1KRT74 CL E G H12139128929OMIM:613981Hypotrichosis 35
HP:0008070HP:0002209Sparse scalp hair1KRT74 CL E G H12139128929ORPHA:90368Hypotrichosis simplex of the scalp5
HP:0008070HP:0002231Sparse body hair1KRT74 CL E G H12139128929ORPHA:170Woolly hairHP:0040283 - Occasional5
HP:0008070HP:0002231Sparse body hair1KRT85 CL E G H38916462OMIM:602032Ectodermal dysplasia 4, Hair/nail typeHP:0040283 - Occasional2
HP:0008070HP:0002231Sparse body hair1LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent116
HP:0008070HP:0002231Sparse body hair1LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent167
HP:0008070HP:0002231Sparse body hair1LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent135
HP:0008070HP:0002225Sparse pubic hair1LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia.9
HP:0008070HP:0002215Sparse axillary hair1LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia.9
HP:0008070HP:0002209Sparse scalp hair1LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0008070HP:0002231Sparse body hair1LIPH CL E G H20087918483OMIM:604379Hypotrichosis 712
HP:0008070HP:0002209Sparse scalp hair1LIPH CL E G H20087918483OMIM:604379Hypotrichosis 712
HP:0008070HP:0000653Sparse eyelashes1LIPH CL E G H20087918483OMIM:604379Hypotrichosis 7.12
HP:0008070HP:0002215Sparse axillary hair1LIPH CL E G H20087918483OMIM:604379Hypotrichosis 712
HP:0008070HP:0000653Sparse eyelashes1LIPH CL E G H20087918483ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent12
HP:0008070HP:0002209Sparse scalp hair1LIPH CL E G H20087918483ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent12
HP:0008070HP:0002231Sparse body hair1LIPH CL E G H20087918483ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent12
HP:0008070HP:0002231Sparse body hair1LIPH CL E G H20087918483ORPHA:170Woolly hairHP:0040283 - Occasional12
HP:0008070HP:0002231Sparse body hair1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0008070HP:0002209Sparse scalp hair1LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia.645
HP:0008070HP:0002209Sparse scalp hair1LPAR6 CL E G H1016115520OMIM:278150Hypotrichosis 8HP:0040283 - Occasional8
HP:0008070HP:0000653Sparse eyelashes1LPAR6 CL E G H1016115520OMIM:278150Hypotrichosis 8HP:0040283 - Occasional8
HP:0008070HP:0002215Sparse axillary hair1LPAR6 CL E G H1016115520OMIM:278150Hypotrichosis 8HP:0040283 - Occasional8
HP:0008070HP:0002209Sparse scalp hair1LPAR6 CL E G H1016115520ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent8
HP:0008070HP:0002231Sparse body hair1LPAR6 CL E G H1016115520ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent8
HP:0008070HP:0000653Sparse eyelashes1LPAR6 CL E G H1016115520ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent8
HP:0008070HP:0002231Sparse body hair1LPAR6 CL E G H1016115520ORPHA:170Woolly hairHP:0040283 - Occasional8
HP:0008070HP:0002231Sparse body hair1LSS CL E G H40476708ORPHA:2850Alopecia-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0008070HP:0002209Sparse scalp hair1LSS CL E G H40476708ORPHA:2850Alopecia-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0008070HP:0002225Sparse pubic hair1LSS CL E G H40476708OMIM:618275Hypotrichosis 142
HP:0008070HP:0002231Sparse body hair1LSS CL E G H40476708OMIM:618275Hypotrichosis 14.2
HP:0008070HP:0002209Sparse scalp hair1LSS CL E G H40476708ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent2
HP:0008070HP:0002231Sparse body hair1LSS CL E G H40476708ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent2
HP:0008070HP:0000653Sparse eyelashes1LSS CL E G H40476708ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent2
HP:0008070HP:0002209Sparse scalp hair1MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0008070HP:0002209Sparse scalp hair1MAF CL E G H40946776OMIM:601088Ayme-Gripp syndromeHP:0040283 - Occasional21
HP:0008070HP:0000653Sparse eyelashes1MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0008070HP:0002225Sparse pubic hair1MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent13
HP:0008070HP:0002215Sparse axillary hair1MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent13
HP:0008070HP:0002215Sparse axillary hair1MAP3K1 CL E G H42146848OMIM:61376246,xy sex reversal 6.13
HP:0008070HP:0000653Sparse eyelashes1MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked.22
HP:0008070HP:0002225Sparse pubic hair1MDM2 CL E G H41936973OMIM:618681LESSEL-KUBISCH SYNDROME; LSKB1
HP:0008070HP:0002209Sparse scalp hair1MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040282 - Frequent43
HP:0008070HP:0002209Sparse scalp hair1MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0008070HP:0000653Sparse eyelashes1MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive.9
HP:0008070HP:0002225Sparse pubic hair1MRPS22 CL E G H5694514508ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent25
HP:0008070HP:0000653Sparse eyelashes1NECTIN1 CL E G H58189706OMIM:225060Cleft lip/palate-ectodermal dysplasia syndrome.4
HP:0008070HP:0002296Progressive hypotrichosis1NECTIN1 CL E G H58189706OMIM:225060Cleft lip/palate-ectodermal dysplasia syndrome.4
HP:0008070HP:0000653Sparse eyelashes1NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 1.7
HP:0008070HP:0002209Sparse scalp hair1NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 1.7
HP:0008070HP:0002209Sparse scalp hair1NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0008070HP:0000653Sparse eyelashes1NF1 CL E G H47637765ORPHA:13947417q11.2 microduplication syndromeHP:0040283 - Occasional1952
HP:0008070HP:0000653Sparse eyelashes1NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 1.27
HP:0008070HP:0002209Sparse scalp hair1NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 1.27
HP:0008070HP:0000653Sparse eyelashes1NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 1.17
HP:0008070HP:0002209Sparse scalp hair1NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 1.17
HP:0008070HP:0002225Sparse pubic hair1NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent48
HP:0008070HP:0002215Sparse axillary hair1NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent48
HP:0008070HP:0002209Sparse scalp hair1NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0008070HP:0002225Sparse pubic hair1NR5A1 CL E G H25167983ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent38
HP:0008070HP:0002225Sparse pubic hair1NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent38
HP:0008070HP:0002215Sparse axillary hair1NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent38
HP:0008070HP:0002209Sparse scalp hair1NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0008070HP:0002231Sparse body hair1NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0008070HP:0002209Sparse scalp hair1NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0008070HP:0002209Sparse scalp hair1NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0008070HP:0002225Sparse pubic hair1NUP107 CL E G H5712229914ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent5
HP:0008070HP:0002209Sparse scalp hair1NUP85 CL E G H799028734ORPHA:808Seckel syndromeHP:0040282 - Frequent
HP:0008070HP:0002209Sparse scalp hair1OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0008070HP:0002209Sparse scalp hair1ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0008070HP:0000653Sparse eyelashes1ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0008070HP:0000653Sparse eyelashes1ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040282 - Frequent1
HP:0008070HP:0002209Sparse scalp hair1ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0008070HP:0002225Sparse pubic hair1ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0008070HP:0002215Sparse axillary hair1ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0008070HP:0002209Sparse scalp hair1PARN CL E G H50738609ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent26
HP:0008070HP:0002209Sparse scalp hair1PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0008070HP:0002209Sparse scalp hair1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0008070HP:0002209Sparse scalp hair1PCNT CL E G H511616068ORPHA:808Seckel syndromeHP:0040282 - Frequent531
HP:0008070HP:0002209Sparse scalp hair1PLK4 CL E G H1073311397ORPHA:808Seckel syndromeHP:0040282 - Frequent11
HP:0008070HP:0002209Sparse scalp hair1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040281 - Very frequent138
HP:0008070HP:0002209Sparse scalp hair1POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0008070HP:0000653Sparse eyelashes1POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0008070HP:0002225Sparse pubic hair1POLR3H CL E G H17156830349ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent
HP:0008070HP:0002209Sparse scalp hair1PPP1CB CL E G H55009282ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040281 - Very frequent9
HP:0008070HP:0002225Sparse pubic hair1PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy.
HP:0008070HP:0002209Sparse scalp hair1PRKD1 CL E G H55879407OMIM:617364Congenital heart defects and ectodermal dysplasia.7
HP:0008070HP:0002231Sparse body hair1PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent9
HP:0008070HP:0002231Sparse body hair1PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0008070HP:0002215Sparse axillary hair1PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0008070HP:0002225Sparse pubic hair1PSMC3IP CL E G H2989317928ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent2
HP:0008070HP:0002209Sparse scalp hair1PTPN22 CL E G H261919652ORPHA:3437Vogt-Koyanagi-Harada diseaseHP:0040281 - Very frequent3
HP:0008070HP:0002209Sparse scalp hair1RBBP8 CL E G H59329891ORPHA:808Seckel syndromeHP:0040282 - Frequent68
HP:0008070HP:0000653Sparse eyelashes1RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0008070HP:0002209Sparse scalp hair1RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0008070HP:0002209Sparse scalp hair1RIN2 CL E G H5445318750ORPHA:217335RIN2 syndromeHP:0040281 - Very frequent43
HP:0008070HP:0002209Sparse scalp hair1RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0008070HP:0007464Sparse facial hair1RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia.37
HP:0008070HP:0000653Sparse eyelashes1RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia.37
HP:0008070HP:0002209Sparse scalp hair1RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0008070HP:0002209Sparse scalp hair1RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0008070HP:0000653Sparse eyelashes1RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0008070HP:0002209Sparse scalp hair1RPL21 CL E G H614410313ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent1
HP:0008070HP:0002231Sparse body hair1RPL21 CL E G H614410313ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent1
HP:0008070HP:0000653Sparse eyelashes1RPL21 CL E G H614410313ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent1
HP:0008070HP:0002209Sparse scalp hair1RTEL1 CL E G H5175015888ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent77
HP:0008070HP:0002225Sparse pubic hair1SEMA3E CL E G H972310727OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.16
HP:0008070HP:0002215Sparse axillary hair1SEMA3E CL E G H972310727OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.16
HP:0008070HP:0002209Sparse scalp hair1SETD2 CL E G H2907218420ORPHA:821Sotos syndrome60
HP:0008070HP:0000653Sparse eyelashes1SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type49
HP:0008070HP:0000653Sparse eyelashes1SF3B4 CL E G H1026210771ORPHA:245Nager syndrome49
HP:0008070HP:0002209Sparse scalp hair1SHOC2 CL E G H803615454ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040281 - Very frequent74
HP:0008070HP:0002209Sparse scalp hair1SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0008070HP:0002209Sparse scalp hair1SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0008070HP:0002209Sparse scalp hair1SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0008070HP:0000653Sparse eyelashes1SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0008070HP:0002209Sparse scalp hair1SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome.146
HP:0008070HP:0002209Sparse scalp hair1SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0008070HP:0002209Sparse scalp hair1SMARCA4 CL E G H659711100OMIM:614609Coffin-Siris syndrome 4617
HP:0008070HP:0002209Sparse scalp hair1SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0008070HP:0002209Sparse scalp hair1SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 3.87
HP:0008070HP:0002209Sparse scalp hair1SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0008070HP:0002209Sparse scalp hair1SMARCC2 CL E G H660111105OMIM:618362Coffin-Siris syndrome 8.1
HP:0008070HP:0002209Sparse scalp hair1SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0008070HP:0002209Sparse scalp hair1SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0008070HP:0002209Sparse scalp hair1SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0008070HP:0002231Sparse body hair1SNRPE CL E G H663511161ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent2
HP:0008070HP:0000653Sparse eyelashes1SNRPE CL E G H663511161ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent2
HP:0008070HP:0002209Sparse scalp hair1SNRPE CL E G H663511161ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent2
HP:0008070HP:0002209Sparse scalp hair1SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0008070HP:0002209Sparse scalp hair1SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 2714
HP:0008070HP:0002209Sparse scalp hair1SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome7
HP:0008070HP:0000653Sparse eyelashes1SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome.7
HP:0008070HP:0002209Sparse scalp hair1SOX18 CL E G H5434511194ORPHA:69735Hypotrichosis-lymphedema-telangiectasia-renal defect syndromeHP:0040281 - Very frequent7
HP:0008070HP:0002231Sparse body hair1SOX18 CL E G H5434511194ORPHA:69735Hypotrichosis-lymphedema-telangiectasia-renal defect syndromeHP:0040281 - Very frequent7
HP:0008070HP:0002209Sparse scalp hair1SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0008070HP:0002225Sparse pubic hair1SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent109
HP:0008070HP:0002215Sparse axillary hair1SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent109
HP:0008070HP:0002225Sparse pubic hair1SPIDR CL E G H2351428971ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent2
HP:0008070HP:0002209Sparse scalp hair1SPINK5 CL E G H1100515464OMIM:256500Netherton syndrome.100
HP:0008070HP:0000653Sparse eyelashes1SPINK5 CL E G H1100515464ORPHA:634Netherton syndromeHP:0040283 - Occasional100
HP:0008070HP:0002209Sparse scalp hair1SPINK5 CL E G H1100515464ORPHA:634Netherton syndromeHP:0040281 - Very frequent100
HP:0008070HP:0002215Sparse axillary hair1SPRY4 CL E G H8184815533OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.5
HP:0008070HP:0002225Sparse pubic hair1SPRY4 CL E G H8184815533OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.5
HP:0008070HP:0002231Sparse body hair1SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent5
HP:0008070HP:0002225Sparse pubic hair1SRA1 CL E G H1001111281OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0008070HP:0002215Sparse axillary hair1SRA1 CL E G H1001111281OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0008070HP:0002215Sparse axillary hair1SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent23
HP:0008070HP:0002225Sparse pubic hair1SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent23
HP:0008070HP:0000653Sparse eyelashes1ST14 CL E G H676811344OMIM:602400Ichthyosis, congenital, autosomal recessive 114
HP:0008070HP:0002231Sparse body hair1ST14 CL E G H676811344OMIM:602400Ichthyosis, congenital, autosomal recessive 114
HP:0008070HP:0002231Sparse body hair1TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0008070HP:0002231Sparse body hair1TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0008070HP:0002209Sparse scalp hair1TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0008070HP:0002215Sparse axillary hair1TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome.100
HP:0008070HP:0000653Sparse eyelashes1TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome140
HP:0008070HP:0002209Sparse scalp hair1TERT CL E G H701511730ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent238
HP:0008070HP:0002209Sparse scalp hair1TINF2 CL E G H2627711824ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent60
HP:0008070HP:0002209Sparse scalp hair1TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0008070HP:0002215Sparse axillary hair1TP63 CL E G H862615979OMIM:103285Adult syndrome.140
HP:0008070HP:0002209Sparse scalp hair1TP63 CL E G H862615979OMIM:103285Adult syndrome.140
HP:0008070HP:0002209Sparse scalp hair1TP63 CL E G H862615979ORPHA:978ADULT syndromeHP:0040282 - Frequent140
HP:0008070HP:0000653Sparse eyelashes1TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0008070HP:0002231Sparse body hair1TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0008070HP:0002215Sparse axillary hair1TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0008070HP:0002225Sparse pubic hair1TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0008070HP:0000653Sparse eyelashes1TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0008070HP:0002209Sparse scalp hair1TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0008070HP:0000653Sparse eyelashes1TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0008070HP:0002231Sparse body hair1TRAF6 CL E G H718912036ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent
HP:0008070HP:0002209Sparse scalp hair1TRAIP CL E G H1029330764ORPHA:808Seckel syndromeHP:0040282 - Frequent2
HP:0008070HP:0000653Sparse eyelashes1TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3HP:0040281 - Very frequent171
HP:0008070HP:0002209Sparse scalp hair1TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040281 - Very frequent171
HP:0008070HP:0002209Sparse scalp hair1TSPEAR CL E G H540841268OMIM:618180Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis39
HP:0008070HP:0000653Sparse eyelashes1TSR2 CL E G H9012125455OMIM:300946Diamond-Blackfan anemia 14 with mandibulofacial dysostosis.1
HP:0008070HP:0000653Sparse eyelashes1TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0008070HP:0000653Sparse eyelashes1TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type III7
HP:0008070HP:0000653Sparse eyelashes1TYMS CL E G H729812441OMIM:6200401
HP:0008070HP:0002209Sparse scalp hair1UBA2 CL E G H1005430661OMIM:619959
HP:0008070HP:0002209Sparse scalp hair1UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome.25
HP:0008070HP:0002209Sparse scalp hair1USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0008070HP:0002209Sparse scalp hair1USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0008070HP:0000653Sparse eyelashes1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0008070HP:0002209Sparse scalp hair1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0008070HP:0002215Sparse axillary hair1VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0008070HP:0002225Sparse pubic hair1VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0008070HP:0002215Sparse axillary hair1WDR11 CL E G H5571713831OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.10
HP:0008070HP:0002225Sparse pubic hair1WDR11 CL E G H5571713831OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.10
HP:0008070HP:0002231Sparse body hair1WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent10
HP:0008070HP:0000653Sparse eyelashes1WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0008070HP:0002209Sparse scalp hair1WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0008070HP:0002209Sparse scalp hair1WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0008070HP:0002231Sparse body hair1WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0008070HP:0002231Sparse body hair1WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0008070HP:0002209Sparse scalp hair1WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0008070HP:0002209Sparse scalp hair1WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040281 - Very frequent310
HP:0008070HP:0002215Sparse axillary hair1WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent177
HP:0008070HP:0002225Sparse pubic hair1WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent177
HP:0008070HP:0002215Sparse axillary hair1WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent149
HP:0008070HP:0002225Sparse pubic hair1WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent149
HP:0008070HP:0002209Sparse scalp hair1ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome.17
HP:0008070HP:0002231Sparse body hair1ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0008070HP:0002215Sparse axillary hair1ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent31
HP:0008070HP:0002225Sparse pubic hair1ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent31
HP:0008070HP:0000653Sparse eyelashes1ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal.83
HP:0008070HP:0002225Sparse pubic hair1ZSWIM7 CL E G H12515026993ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent
HP:0008070HP:0040050Sparse upper eyelashes2 CL E G H
HP:0008070HP:0004768Sparse anterior scalp hair2APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040282 - Frequent1
HP:0008070HP:0004768Sparse anterior scalp hair2NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040282 - Frequent544
HP:0008070HP:0004768Sparse anterior scalp hair2SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040282 - Frequent60
HP:0008070HP:0007776Sparse lower eyelashes2SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0008070HP:0007776Sparse lower eyelashes2SF3B4 CL E G H1026210771ORPHA:245Nager syndromeHP:0040282 - Frequent49
HP:0008070HP:0007776Sparse lower eyelashes2TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome.140
HP:0008070HP:0007776Sparse lower eyelashes2TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type IIIHP:0040282 - Frequent7


Genes (366) :AARS1 ABCA12 ACD ADAMTS3 ADNP AHSG ALDH18A1 ALOX12B ALOXE3 ALX1 ALX4 ANAPC1 ANOS1 ANTXR1 AP1B1 APC2 APCDD1 AR ARHGAP31 ARID1A ARID1B ARID2 ASPRV1 ASXL3 ATP2B1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATR ATRIP ATRX AXIN2 AXL B3GALT6 B4GALT7 BANF1 BCORL1 BICRA BLM BMP15 BNC1 BRAF BRCA1 BRF1 C18ORF32 CACNA1C CACNA1G CAMK2B CANT1 CARS1 CAV1 CBL CBS CCBE1 CCDC141 CDC42BPB CDH1 CDH23 CDH3 CDSN CENPE CENPJ CEP152 CEP57 CHD7 CKAP2L CLDN1 CLMP COL11A1 COL17A1 CREBBP CRIPT CSGALNACT1 CST6 CTC1 CTSC CWC27 CYB5A CYP17A1 CYP4F22 DCAF17 DHX37 DKC1 DLL4 DLX4 DMRT3 DNAJC21 DNMT3A DOCK6 DOLK DPF2 DPH1 DPH2 DPH5 DSC3 DSG1 DSG4 DSP DUSP6 EBP EDA EDA2R EDAR EDARADD EDNRA EIF5A EOGT EPS8L3 ERCC2 ERCC3 ERCC6 ERCC8 ESCO2 EXOSC2 EXT1 EXT2 EZH2 FAS FAT4 FEZF1 FGF17 FGF8 FGFR1 FIG4 FLNA FMR1 FOXL2 FRMD4A FSHB FSHR GATA4 GATAD2B GJA1 GJB2 GJB6 GNB2 GNPTAB GNRH1 GNRHR GSN GTF2E2 GTF2H5 GTPBP2 H3-3B HDAC4 HLA-DRA HOXC13 HPD HR HRAS HRURF HS6ST1 HSPA9 IFT122 IFT140 IFT43 IFT52 IGF1R IKBKG IPO8 IRX5 ITGA3 ITGB4 ITGB6 JUP KANK2 KAT6B KCTD1 KDF1 KDM1A KDM4B KIFBP KISS1 KISS1R KLHL24 KMT2B KRAS KREMEN1 KRT17 KRT25 KRT71 KRT74 KRT81 KRT83 KRT85 KRT86 LAMA3 LAMB3 LAMC2 LHB LIFR LIG4 LIPH LIPN LMNA LPAR6 LSS MAF MAP2K1 MAP2K2 MAP3K1 MAPKAPK5 MARS1 MBTPS2 MDM2 MED12 MED25 MESD MGAT2 MPLKIP MRPS22 MSX1 MTX2 NDUFA6 NECTIN1 NECTIN4 NEPRO NF1 NFIX NFKBIA NHP2 NIPAL4 NOP10 NOTCH1 NPM1 NR0B1 NR3C1 NR5A1 NRAS NSD1 NSMF NSRP1 NSUN2 NTRK1 NUP107 NUP85 OCRL ODC1 OFD1 ORC6 PARN PCGF2 PCNT PDGFRB PERP PHF6 PI4KA PIGL PIK3R1 PKP1 PLK4 PNPLA6 POC1A POGZ POLR3A POLR3H POP1 PORCN PPP1CB PPP1R15B PPP2R3C PQBP1 PRIM1 PRKD1 PROK2 PROKR2 PRPS1 PSMB8 PSMC3IP PTDSS1 PTPN22 PYCR1 RBBP8 RBPJ RECQL4 RIN2 RIPK4 RMRP RNF113A RNU4ATAC RPL21 RTEL1 SATB2 SDR9C7 SEC23A SEMA3E SETD2 SF3B4 SHOC2 SKIC2 SKIC3 SLC25A24 SLC7A7 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SNRPE SOX11 SOX18 SOX4 SOX9 SPIDR SPINK5 SPRED2 SPRY4 SRA1 SREBF1 SRY ST14 STING1 SULT2B1 TAC3 TACR3 TAF1 TARS1 TBX3 TCOF1 TERC TERT TFAP2A TGM1 THUMPD1 TINF2 TMEM147 TOGARAM1 TP53 TP63 TRAF6 TRAIP TRMT10A TRPS1 TRPV3 TSPEAR TSR2 TTC7A TWIST2 TYMS UBA2 UBE3B UBR1 USB1 USP48 USP8 VAC14 VAMP7 WDR11 WDR19 WDR35 WLS WNT10A WNT10B WRAP53 WRN WT1 WWOX XRCC4 XYLT1 ZBTB20 ZFPM2 ZMPSTE24 ZSWIM7

Diseases (356) :OMIM:619691 ORPHA:313 ORPHA:3322 ORPHA:2136 ORPHA:404448 ORPHA:2850 OMIM:219150 OMIM:613456 ORPHA:306542 OMIM:613451 ORPHA:221008 OMIM:618625 OMIM:308700 OMIM:230740 ORPHA:2067 OMIM:242150 ORPHA:821 OMIM:605389 ORPHA:55654 OMIM:300068 ORPHA:99429 ORPHA:974 ORPHA:1465 OMIM:614607 OMIM:135900 OMIM:615485 OMIM:619910 ORPHA:357074 OMIM:278250 ORPHA:2834 ORPHA:565 OMIM:309400 ORPHA:808 ORPHA:96253 OMIM:608615 OMIM:146110 OMIM:615349 OMIM:271640 ORPHA:75496 OMIM:130070 OMIM:614008 OMIM:301029 OMIM:619325 ORPHA:125 ORPHA:243 ORPHA:1340 OMIM:115150 ORPHA:840 OMIM:617883 ORPHA:444072 OMIM:619985 OMIM:620029 OMIM:618087 OMIM:617799 ORPHA:1425 OMIM:618891 ORPHA:33364 OMIM:606721 OMIM:613563 ORPHA:394 OMIM:619841 OMIM:119580 OMIM:225280 ORPHA:1897 ORPHA:1573 OMIM:601553 OMIM:146520 ORPHA:90368 OMIM:614114 ORPHA:432 OMIM:272440 OMIM:607626 ORPHA:59303 ORPHA:2301 ORPHA:560 ORPHA:79402 ORPHA:251393 OMIM:618332 OMIM:615789 OMIM:618535 OMIM:612199 ORPHA:1775 ORPHA:678 OMIM:250410 ORPHA:90796 OMIM:241080 ORPHA:251510 OMIM:305000 OMIM:616788 OMIM:617052 OMIM:618724 OMIM:610768 OMIM:618027 ORPHA:459061 OMIM:616901 OMIM:620062 OMIM:620070 OMIM:613102 OMIM:615508 OMIM:607903 ORPHA:573 OMIM:607655 OMIM:302960 ORPHA:35173 OMIM:305100 ORPHA:181 ORPHA:1810 OMIM:129490 OMIM:224900 OMIM:614940 OMIM:614941 OMIM:616367 OMIM:619376 OMIM:612841 ORPHA:444 OMIM:610756 OMIM:601675 OMIM:133540 OMIM:216400 OMIM:268300 ORPHA:3103 OMIM:617763 ORPHA:502 OMIM:616682 OMIM:277590 ORPHA:3437 ORPHA:3472 OMIM:216340 ORPHA:261483 OMIM:110100 OMIM:616819 ORPHA:52901 OMIM:615074 ORPHA:1010 ORPHA:2710 OMIM:164200 OMIM:257850 OMIM:104100 OMIM:602540 OMIM:148210 ORPHA:477 OMIM:129500 ORPHA:189 OMIM:619503 OMIM:252500 ORPHA:85448 OMIM:617988 OMIM:619721 ORPHA:1001 ORPHA:505 OMIM:614931 ORPHA:2118 OMIM:209500 OMIM:218040 OMIM:146550 OMIM:616854 ORPHA:1515 OMIM:218330 OMIM:266920 OMIM:614099 OMIM:270450 OMIM:300291 OMIM:308300 OMIM:619472 OMIM:611174 OMIM:614748 ORPHA:34217 OMIM:601214 OMIM:616099 OMIM:606170 ORPHA:85201 ORPHA:2036 OMIM:181270 ORPHA:477993 OMIM:619320 ORPHA:66629 OMIM:609460 OMIM:617294 OMIM:619934 OMIM:615278 OMIM:617392 OMIM:167210 ORPHA:170 OMIM:616760 OMIM:615896 OMIM:614929 OMIM:613981 OMIM:158000 OMIM:602032 OMIM:228300 OMIM:601559 ORPHA:235 OMIM:604379 ORPHA:79474 ORPHA:363618 OMIM:248370 ORPHA:1662 OMIM:278150 OMIM:618275 ORPHA:1272 OMIM:601088 OMIM:615280 OMIM:613762 OMIM:619869 OMIM:619692 ORPHA:2273 OMIM:308800 ORPHA:659 OMIM:618681 OMIM:305450 OMIM:616449 ORPHA:464738 OMIM:618644 OMIM:212066 OMIM:234050 OMIM:189500 OMIM:619127 OMIM:618253 OMIM:225060 ORPHA:3253 OMIM:613573 OMIM:618853 ORPHA:139474 OMIM:602535 OMIM:612132 OMIM:224230 OMIM:613224 OMIM:620001 OMIM:611091 OMIM:256800 ORPHA:534 OMIM:619075 ORPHA:544488 OMIM:311200 ORPHA:2750 OMIM:613803 OMIM:616353 OMIM:618371 OMIM:210720 OMIM:601812 OMIM:619208 ORPHA:127 ORPHA:436252 ORPHA:3474 OMIM:280000 ORPHA:3163 ORPHA:158668 OMIM:604536 OMIM:275400 OMIM:614813 OMIM:616364 ORPHA:3455 OMIM:264090 OMIM:617396 OMIM:305600 ORPHA:2701 OMIM:617506 OMIM:616817 ORPHA:391408 OMIM:618419 OMIM:309500 OMIM:620005 OMIM:617364 OMIM:300661 OMIM:256040 OMIM:151050 OMIM:614438 ORPHA:221016 OMIM:268400 OMIM:613075 ORPHA:217335 OMIM:263650 OMIM:250250 ORPHA:175 OMIM:300953 ORPHA:2636 OMIM:210710 OMIM:615885 ORPHA:251019 OMIM:612313 ORPHA:251028 ORPHA:50814 OMIM:607812 OMIM:154400 ORPHA:245 OMIM:607721 OMIM:614602 OMIM:222470 OMIM:612289 ORPHA:2963 OMIM:222700 OMIM:139210 OMIM:619293 OMIM:601358 ORPHA:3051 OMIM:614609 OMIM:614608 OMIM:618362 OMIM:616938 OMIM:615059 OMIM:615866 OMIM:607823 ORPHA:69735 OMIM:137940 OMIM:256500 ORPHA:634 OMIM:619745 OMIM:619016 OMIM:158310 OMIM:602400 ORPHA:91132 OMIM:615934 OMIM:300966 OMIM:181450 OMIM:154500 OMIM:127550 OMIM:113620 ORPHA:100976 OMIM:242300 OMIM:619989 OMIM:268130 OMIM:620075 OMIM:619185 ORPHA:978 OMIM:103285 OMIM:106260 OMIM:604292 OMIM:129400 ORPHA:77258 OMIM:190350 OMIM:190351 OMIM:614594 OMIM:618180 OMIM:300946 ORPHA:920 OMIM:200110 OMIM:209885 OMIM:227260 ORPHA:1807 OMIM:620040 OMIM:619959 OMIM:244450 OMIM:243800 OMIM:613610 OMIM:614091 OMIM:619648 OMIM:257980 ORPHA:50944 OMIM:224750 OMIM:150400 OMIM:617073 ORPHA:902 OMIM:616541 OMIM:259050 OMIM:608612 OMIM:275210
 

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