Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin adnexa morphology (HP:0011138)help
Parent Node:
expand
Abnormal hair morphology (HP:0001595)help
..Starting node
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Abnormality of secondary sexual hair (HP:0009888)help
Term ID: 9888
Name: Abnormality of secondary sexual hair
Synonym: Abnormality of secondary sexual hair
Definition: Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.
Comments:
Reference: HP:0009888
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of the pubic hair (HP:0100133) help
................... HP:0002225 Sparse pubic hair
................... HP:0002555 Absent pubic hair
........expandAbnormality of the axillary hair (HP:0100134) help
................... HP:0002215 Sparse axillary hair
................... HP:0002221 Absent axillary hair

 Sister Nodes: 
..expandAbnormal eyebrow morphology (HP:0000534) help
..expandAbnormal eyelash morphology (HP:0000499) help
..expandAbnormal hair pattern (HP:0010720) help
..expandAbnormal hair quantity (HP:0011362) help
..expandAbnormal hairshaft morphology (HP:0003328) help
..expandAbnormality of hair growth (HP:0040170) help
..expandAbnormality of hair pigmentation (HP:0009887) help
..expandAbnormality of hair texture (HP:0010719) help
..expandAbnormality of the scalp hair (HP:0100037) help
..expandobsolete Abnormality of hair density (HP:0011357) help
..expandTrichodysplasia (HP:0002552) 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:0009888HP:0009888Abnormality of secondary sexual hair0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndrome1
HP:0009888HP:0009888Abnormality of secondary sexual hair0ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia65
HP:0009888HP:0009888Abnormality of secondary sexual hair0APCDD1 CL E G H14749515718OMIM:605389Hypotrichosis 11
HP:0009888HP:0009888Abnormality of secondary sexual hair0APOE CL E G H348613OMIM:269600Sea-Blue histiocyte disease39
HP:0009888HP:0009888Abnormality of secondary sexual hair0AR CL E G H367644OMIM:300068Androgen insensitivity syndrome125
HP:0009888HP:0009888Abnormality of secondary sexual hair0AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndrome125
HP:0009888HP:0009888Abnormality of secondary sexual hair0AR CL E G H367644ORPHA:90797Partial androgen insensitivity syndromeHP:0040283 - Occasional125
HP:0009888HP:0009888Abnormality of secondary sexual hair0AXIN2 CL E G H8313904OMIM:608615OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS435
HP:0009888HP:0009888Abnormality of secondary sexual hair0AXL CL E G H558905OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0009888HP:0009888Abnormality of secondary sexual hair0BMP15 CL E G H92101068ORPHA:24346,XX gonadal dysgenesisHP:0040281 - Very frequent16
HP:0009888HP:0009888Abnormality of secondary sexual hair0BNC1 CL E G H6461081ORPHA:24346,XX gonadal dysgenesisHP:0040281 - Very frequent
HP:0009888HP:0009888Abnormality of secondary sexual hair0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndrome147
HP:0009888HP:0009888Abnormality of secondary sexual hair0CCDC141 CL E G H28502526821OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0009888HP:0009888Abnormality of secondary sexual hair0COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosa129
HP:0009888HP:0009888Abnormality of secondary sexual hair0CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency2
HP:0009888HP:0009888Abnormality of secondary sexual hair0CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency53
HP:0009888HP:0009888Abnormality of secondary sexual hair0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency53
HP:0009888HP:0009888Abnormality of secondary sexual hair0DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0009888HP:0009888Abnormality of secondary sexual hair0DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesis1
HP:0009888HP:0009888Abnormality of secondary sexual hair0DSC3 CL E G H18253037OMIM:613102HYPOTRICHOSIS AND RECURRENT SKIN VESICLES2
HP:0009888HP:0009888Abnormality of secondary sexual hair0DUSP6 CL E G H18483072OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia4
HP:0009888HP:0009888Abnormality of secondary sexual hair0EPS8L3 CL E G H7957421297OMIM:612841Hypotrichosis 5
HP:0009888HP:0009888Abnormality of secondary sexual hair0FAT4 CL E G H7963323109ORPHA:2136Hennekam syndrome114
HP:0009888HP:0009888Abnormality of secondary sexual hair0FEZF1 CL E G H38954922788OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia2
HP:0009888HP:0009888Abnormality of secondary sexual hair0FGF17 CL E G H88223673OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia3
HP:0009888HP:0009888Abnormality of secondary sexual hair0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent
HP:0009888HP:0009888Abnormality of secondary sexual hair0FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis92
HP:0009888HP:0009888Abnormality of secondary sexual hair0FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiency23
HP:0009888HP:0009888Abnormality of secondary sexual hair0FSHR CL E G H24923969ORPHA:24346,XX gonadal dysgenesisHP:0040281 - Very frequent50
HP:0009888HP:0009888Abnormality of secondary sexual hair0GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesis87
HP:0009888HP:0009888Abnormality of secondary sexual hair0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0009888HP:0009888Abnormality of secondary sexual hair0GJB6 CL E G H108044288OMIM:129500Clouston syndrome56
HP:0009888HP:0009888Abnormality of secondary sexual hair0GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0009888HP:0009888Abnormality of secondary sexual hair0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent173
HP:0009888HP:0009888Abnormality of secondary sexual hair0GNRH1 CL E G H27964419OMIM:614841Hypogonadotropic hypogonadism 12 with or without anosmia15
HP:0009888HP:0009888Abnormality of secondary sexual hair0GNRH1 CL E G H27964419OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia15
HP:0009888HP:0009888Abnormality of secondary sexual hair0GNRHR CL E G H27984421OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia92
HP:0009888HP:0009888Abnormality of secondary sexual hair0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent21
HP:0009888HP:0009888Abnormality of secondary sexual hair0HLA-DRA CL E G H31224947ORPHA:505Graham Little-Piccardi-Lassueur syndrome
HP:0009888HP:0009888Abnormality of secondary sexual hair0HR CL E G H558065172OMIM:203655Alopecia universalis congenita106
HP:0009888HP:0009888Abnormality of secondary sexual hair0ITGB4 CL E G H36916158OMIM:619816EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A124
HP:0009888HP:0009888Abnormality of secondary sexual hair0ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosa124
HP:0009888HP:0009888Abnormality of secondary sexual hair0LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia9
HP:0009888HP:0009888Abnormality of secondary sexual hair0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent43
HP:0009888HP:0009888Abnormality of secondary sexual hair0LIPH CL E G H20087918483OMIM:604379Hypotrichosis 712
HP:0009888HP:0009888Abnormality of secondary sexual hair0LPAR6 CL E G H1016115520OMIM:278150Hypotrichosis 88
HP:0009888HP:0009888Abnormality of secondary sexual hair0LSS CL E G H40476708OMIM:618275Hypotrichosis 142
HP:0009888HP:0009888Abnormality of secondary sexual hair0MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesis13
HP:0009888HP:0009888Abnormality of secondary sexual hair0MAP3K1 CL E G H42146848OMIM:61376246,xy sex reversal 613
HP:0009888HP:0009888Abnormality of secondary sexual hair0MDM2 CL E G H41936973OMIM:618681LESSEL-KUBISCH SYNDROME; LSKB1
HP:0009888HP:0009888Abnormality of secondary sexual hair0MRPS22 CL E G H5694514508ORPHA:24346,XX gonadal dysgenesisHP:0040281 - Very frequent25
HP:0009888HP:0009888Abnormality of secondary sexual hair0NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesis48
HP:0009888HP:0009888Abnormality of secondary sexual hair0NR5A1 CL E G H25167983ORPHA:24346,XX gonadal dysgenesisHP:0040281 - Very frequent38
HP:0009888HP:0009888Abnormality of secondary sexual hair0NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesis38
HP:0009888HP:0009888Abnormality of secondary sexual hair0NR5A1 CL E G H25167983OMIM:612964PREMATURE OVARIAN FAILURE 7; POF738
HP:0009888HP:0009888Abnormality of secondary sexual hair0NUP107 CL E G H5712229914ORPHA:24346,XX gonadal dysgenesisHP:0040281 - Very frequent5
HP:0009888HP:0009888Abnormality of secondary sexual hair0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 339
HP:0009888HP:0009888Abnormality of secondary sexual hair0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent41
HP:0009888HP:0009888Abnormality of secondary sexual hair0POLR3H CL E G H17156830349ORPHA:24346,XX gonadal dysgenesisHP:0040281 - Very frequent
HP:0009888HP:0009888Abnormality of secondary sexual hair0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent36
HP:0009888HP:0009888Abnormality of secondary sexual hair0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0009888HP:0009888Abnormality of secondary sexual hair0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent54
HP:0009888HP:0009888Abnormality of secondary sexual hair0PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarismHP:0040282 - Frequent54
HP:0009888HP:0009888Abnormality of secondary sexual hair0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0009888HP:0009888Abnormality of secondary sexual hair0PSMC3IP CL E G H2989317928ORPHA:24346,XX gonadal dysgenesisHP:0040281 - Very frequent2
HP:0009888HP:0009888Abnormality of secondary sexual hair0SEMA3E CL E G H972310727OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia16
HP:0009888HP:0009888Abnormality of secondary sexual hair0SNRPE CL E G H663511161OMIM:615059Hypotrichosis 112
HP:0009888HP:0009888Abnormality of secondary sexual hair0SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarismHP:0040282 - Frequent24
HP:0009888HP:0009888Abnormality of secondary sexual hair0SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesis109
HP:0009888HP:0009888Abnormality of secondary sexual hair0SPIDR CL E G H2351428971ORPHA:24346,XX gonadal dysgenesisHP:0040281 - Very frequent2
HP:0009888HP:0009888Abnormality of secondary sexual hair0SPRY4 CL E G H8184815533OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia5
HP:0009888HP:0009888Abnormality of secondary sexual hair0SRA1 CL E G H1001111281OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0009888HP:0009888Abnormality of secondary sexual hair0SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesis23
HP:0009888HP:0009888Abnormality of secondary sexual hair0TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0009888HP:0009888Abnormality of secondary sexual hair0TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndrome100
HP:0009888HP:0009888Abnormality of secondary sexual hair0TP63 CL E G H862615979OMIM:103285Adult syndrome140
HP:0009888HP:0009888Abnormality of secondary sexual hair0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0009888HP:0009888Abnormality of secondary sexual hair0VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0009888HP:0009888Abnormality of secondary sexual hair0WDR11 CL E G H5571713831OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia10
HP:0009888HP:0009888Abnormality of secondary sexual hair0WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesis177
HP:0009888HP:0009888Abnormality of secondary sexual hair0WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesis149
HP:0009888HP:0009888Abnormality of secondary sexual hair0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0009888HP:0009888Abnormality of secondary sexual hair0ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesis31
HP:0009888HP:0009888Abnormality of secondary sexual hair0ZSWIM7 CL E G H12515026993ORPHA:24346,XX gonadal dysgenesisHP:0040281 - Very frequent
HP:0009888HP:0100134Abnormality of the axillary hair1ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndrome1
HP:0009888HP:0100133Abnormality of the pubic hair1ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia65
HP:0009888HP:0100134Abnormality of the axillary hair1APCDD1 CL E G H14749515718OMIM:605389Hypotrichosis 11
HP:0009888HP:0100133Abnormality of the pubic hair1APCDD1 CL E G H14749515718OMIM:605389Hypotrichosis 11
HP:0009888HP:0100134Abnormality of the axillary hair1APOE CL E G H348613OMIM:269600Sea-Blue histiocyte disease39
HP:0009888HP:0100134Abnormality of the axillary hair1AR CL E G H367644OMIM:300068Androgen insensitivity syndrome125
HP:0009888HP:0100133Abnormality of the pubic hair1AR CL E G H367644OMIM:300068Androgen insensitivity syndrome125
HP:0009888HP:0100133Abnormality of the pubic hair1AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndrome125
HP:0009888HP:0100134Abnormality of the axillary hair1AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndrome125
HP:0009888HP:0100134Abnormality of the axillary hair1AXIN2 CL E G H8313904OMIM:608615OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS435
HP:0009888HP:0100134Abnormality of the axillary hair1AXL CL E G H558905OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0009888HP:0100133Abnormality of the pubic hair1AXL CL E G H558905OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0009888HP:0100133Abnormality of the pubic hair1BMP15 CL E G H92101068ORPHA:24346,XX gonadal dysgenesis16
HP:0009888HP:0100133Abnormality of the pubic hair1BNC1 CL E G H6461081ORPHA:24346,XX gonadal dysgenesis
HP:0009888HP:0100134Abnormality of the axillary hair1CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndrome147
HP:0009888HP:0100134Abnormality of the axillary hair1CCDC141 CL E G H28502526821OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0009888HP:0100133Abnormality of the pubic hair1CCDC141 CL E G H28502526821OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0009888HP:0100134Abnormality of the axillary hair1COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosa129
HP:0009888HP:0100133Abnormality of the pubic hair1COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosa129
HP:0009888HP:0100134Abnormality of the axillary hair1CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency2
HP:0009888HP:0100133Abnormality of the pubic hair1CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency2
HP:0009888HP:0100134Abnormality of the axillary hair1CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency53
HP:0009888HP:0100133Abnormality of the pubic hair1CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency53
HP:0009888HP:0100133Abnormality of the pubic hair1CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency53
HP:0009888HP:0100134Abnormality of the axillary hair1CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency53
HP:0009888HP:0100134Abnormality of the axillary hair1DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0009888HP:0100133Abnormality of the pubic hair1DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0009888HP:0100134Abnormality of the axillary hair1DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesis1
HP:0009888HP:0100133Abnormality of the pubic hair1DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesis1
HP:0009888HP:0100134Abnormality of the axillary hair1DSC3 CL E G H18253037OMIM:613102HYPOTRICHOSIS AND RECURRENT SKIN VESICLES2
HP:0009888HP:0100133Abnormality of the pubic hair1DUSP6 CL E G H18483072OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia4
HP:0009888HP:0100134Abnormality of the axillary hair1DUSP6 CL E G H18483072OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia4
HP:0009888HP:0100133Abnormality of the pubic hair1EPS8L3 CL E G H7957421297OMIM:612841Hypotrichosis 5
HP:0009888HP:0100134Abnormality of the axillary hair1EPS8L3 CL E G H7957421297OMIM:612841Hypotrichosis 5
HP:0009888HP:0100134Abnormality of the axillary hair1FAT4 CL E G H7963323109ORPHA:2136Hennekam syndrome114
HP:0009888HP:0100134Abnormality of the axillary hair1FEZF1 CL E G H38954922788OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia2
HP:0009888HP:0100133Abnormality of the pubic hair1FEZF1 CL E G H38954922788OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia2
HP:0009888HP:0100133Abnormality of the pubic hair1FGF17 CL E G H88223673OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia3
HP:0009888HP:0100134Abnormality of the axillary hair1FGF17 CL E G H88223673OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia3
HP:0009888HP:0100133Abnormality of the pubic hair1FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis92
HP:0009888HP:0100134Abnormality of the axillary hair1FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiency23
HP:0009888HP:0100133Abnormality of the pubic hair1FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiency23
HP:0009888HP:0100133Abnormality of the pubic hair1FSHR CL E G H24923969ORPHA:24346,XX gonadal dysgenesis50
HP:0009888HP:0100134Abnormality of the axillary hair1GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesis87
HP:0009888HP:0100133Abnormality of the pubic hair1GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesis87
HP:0009888HP:0100133Abnormality of the pubic hair1GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0009888HP:0100134Abnormality of the axillary hair1GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0009888HP:0100133Abnormality of the pubic hair1GJB6 CL E G H108044288OMIM:129500Clouston syndrome56
HP:0009888HP:0100134Abnormality of the axillary hair1GJB6 CL E G H108044288OMIM:129500Clouston syndrome56
HP:0009888HP:0100133Abnormality of the pubic hair1GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0009888HP:0100134Abnormality of the axillary hair1GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0009888HP:0100133Abnormality of the pubic hair1GNRH1 CL E G H27964419OMIM:614841Hypogonadotropic hypogonadism 12 with or without anosmia15
HP:0009888HP:0100134Abnormality of the axillary hair1GNRH1 CL E G H27964419OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia15
HP:0009888HP:0100133Abnormality of the pubic hair1GNRH1 CL E G H27964419OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia15
HP:0009888HP:0100133Abnormality of the pubic hair1GNRHR CL E G H27984421OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia92
HP:0009888HP:0100134Abnormality of the axillary hair1GNRHR CL E G H27984421OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia92
HP:0009888HP:0100134Abnormality of the axillary hair1HLA-DRA CL E G H31224947ORPHA:505Graham Little-Piccardi-Lassueur syndrome
HP:0009888HP:0100133Abnormality of the pubic hair1HLA-DRA CL E G H31224947ORPHA:505Graham Little-Piccardi-Lassueur syndrome
HP:0009888HP:0100133Abnormality of the pubic hair1HR CL E G H558065172OMIM:203655Alopecia universalis congenita106
HP:0009888HP:0100134Abnormality of the axillary hair1HR CL E G H558065172OMIM:203655Alopecia universalis congenita106
HP:0009888HP:0100134Abnormality of the axillary hair1ITGB4 CL E G H36916158OMIM:619816EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A124
HP:0009888HP:0100133Abnormality of the pubic hair1ITGB4 CL E G H36916158OMIM:619816EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A124
HP:0009888HP:0100134Abnormality of the axillary hair1ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosa124
HP:0009888HP:0100133Abnormality of the pubic hair1ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosa124
HP:0009888HP:0100133Abnormality of the pubic hair1LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia9
HP:0009888HP:0100134Abnormality of the axillary hair1LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia9
HP:0009888HP:0100134Abnormality of the axillary hair1LIPH CL E G H20087918483OMIM:604379Hypotrichosis 712
HP:0009888HP:0100134Abnormality of the axillary hair1LPAR6 CL E G H1016115520OMIM:278150Hypotrichosis 88
HP:0009888HP:0100133Abnormality of the pubic hair1LSS CL E G H40476708OMIM:618275Hypotrichosis 142
HP:0009888HP:0100134Abnormality of the axillary hair1LSS CL E G H40476708OMIM:618275Hypotrichosis 142
HP:0009888HP:0100133Abnormality of the pubic hair1MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesis13
HP:0009888HP:0100134Abnormality of the axillary hair1MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesis13
HP:0009888HP:0100134Abnormality of the axillary hair1MAP3K1 CL E G H42146848OMIM:61376246,xy sex reversal 613
HP:0009888HP:0100133Abnormality of the pubic hair1MDM2 CL E G H41936973OMIM:618681LESSEL-KUBISCH SYNDROME; LSKB1
HP:0009888HP:0100133Abnormality of the pubic hair1MRPS22 CL E G H5694514508ORPHA:24346,XX gonadal dysgenesis25
HP:0009888HP:0100134Abnormality of the axillary hair1NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesis48
HP:0009888HP:0100133Abnormality of the pubic hair1NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesis48
HP:0009888HP:0100133Abnormality of the pubic hair1NR5A1 CL E G H25167983ORPHA:24346,XX gonadal dysgenesis38
HP:0009888HP:0100134Abnormality of the axillary hair1NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesis38
HP:0009888HP:0100133Abnormality of the pubic hair1NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesis38
HP:0009888HP:0100133Abnormality of the pubic hair1NR5A1 CL E G H25167983OMIM:612964PREMATURE OVARIAN FAILURE 7; POF738
HP:0009888HP:0100133Abnormality of the pubic hair1NUP107 CL E G H5712229914ORPHA:24346,XX gonadal dysgenesis5
HP:0009888HP:0100134Abnormality of the axillary hair1ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 339
HP:0009888HP:0100133Abnormality of the pubic hair1ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 339
HP:0009888HP:0100133Abnormality of the pubic hair1POLR3H CL E G H17156830349ORPHA:24346,XX gonadal dysgenesis
HP:0009888HP:0100134Abnormality of the axillary hair1PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0009888HP:0100133Abnormality of the pubic hair1PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0009888HP:0100134Abnormality of the axillary hair1PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0009888HP:0100133Abnormality of the pubic hair1PSMC3IP CL E G H2989317928ORPHA:24346,XX gonadal dysgenesis2
HP:0009888HP:0100133Abnormality of the pubic hair1SEMA3E CL E G H972310727OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia16
HP:0009888HP:0100134Abnormality of the axillary hair1SEMA3E CL E G H972310727OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia16
HP:0009888HP:0100134Abnormality of the axillary hair1SNRPE CL E G H663511161OMIM:615059Hypotrichosis 112
HP:0009888HP:0100134Abnormality of the axillary hair1SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesis109
HP:0009888HP:0100133Abnormality of the pubic hair1SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesis109
HP:0009888HP:0100133Abnormality of the pubic hair1SPIDR CL E G H2351428971ORPHA:24346,XX gonadal dysgenesis2
HP:0009888HP:0100134Abnormality of the axillary hair1SPRY4 CL E G H8184815533OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia5
HP:0009888HP:0100133Abnormality of the pubic hair1SPRY4 CL E G H8184815533OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia5
HP:0009888HP:0100134Abnormality of the axillary hair1SRA1 CL E G H1001111281OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0009888HP:0100133Abnormality of the pubic hair1SRA1 CL E G H1001111281OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0009888HP:0100134Abnormality of the axillary hair1SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesis23
HP:0009888HP:0100133Abnormality of the pubic hair1SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesis23
HP:0009888HP:0100134Abnormality of the axillary hair1TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0009888HP:0100134Abnormality of the axillary hair1TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndrome100
HP:0009888HP:0100134Abnormality of the axillary hair1TP63 CL E G H862615979OMIM:103285Adult syndrome140
HP:0009888HP:0100134Abnormality of the axillary hair1TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0009888HP:0100133Abnormality of the pubic hair1TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0009888HP:0100133Abnormality of the pubic hair1VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0009888HP:0100134Abnormality of the axillary hair1VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0009888HP:0100134Abnormality of the axillary hair1WDR11 CL E G H5571713831OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia10
HP:0009888HP:0100133Abnormality of the pubic hair1WDR11 CL E G H5571713831OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia10
HP:0009888HP:0100134Abnormality of the axillary hair1WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesis177
HP:0009888HP:0100133Abnormality of the pubic hair1WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesis177
HP:0009888HP:0100134Abnormality of the axillary hair1WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesis149
HP:0009888HP:0100133Abnormality of the pubic hair1WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesis149
HP:0009888HP:0100134Abnormality of the axillary hair1ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0009888HP:0100134Abnormality of the axillary hair1ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesis31
HP:0009888HP:0100133Abnormality of the pubic hair1ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesis31
HP:0009888HP:0100133Abnormality of the pubic hair1ZSWIM7 CL E G H12515026993ORPHA:24346,XX gonadal dysgenesis
HP:0009888HP:0002215Sparse axillary hair2ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndromeHP:0040283 - Occasional1
HP:0009888HP:0002225Sparse pubic hair2ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia.65
HP:0009888HP:0002225Sparse pubic hair2APCDD1 CL E G H14749515718OMIM:605389Hypotrichosis 1HP:0040284 - Very rare1
HP:0009888HP:0002215Sparse axillary hair2APCDD1 CL E G H14749515718OMIM:605389Hypotrichosis 1HP:0040284 - Very rare1
HP:0009888HP:0002221Absent axillary hair2APOE CL E G H348613OMIM:269600Sea-Blue histiocyte disease.39
HP:0009888HP:0002215Sparse axillary hair2AR CL E G H367644OMIM:300068Androgen insensitivity syndrome.125
HP:0009888HP:0002225Sparse pubic hair2AR CL E G H367644OMIM:300068Androgen insensitivity syndrome.125
HP:0009888HP:0002215Sparse axillary hair2AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndromeHP:0040282 - Frequent125
HP:0009888HP:0002225Sparse pubic hair2AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndromeHP:0040282 - Frequent125
HP:0009888HP:0002555Absent pubic hair2AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndromeHP:0040282 - Frequent125
HP:0009888HP:0002221Absent axillary hair2AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndromeHP:0040282 - Frequent125
HP:0009888HP:0002215Sparse axillary hair2AXIN2 CL E G H8313904OMIM:608615OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS435
HP:0009888HP:0002215Sparse axillary hair2AXL CL E G H558905OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0009888HP:0002225Sparse pubic hair2AXL CL E G H558905OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0009888HP:0002225Sparse pubic hair2BMP15 CL E G H92101068ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent16
HP:0009888HP:0002225Sparse pubic hair2BNC1 CL E G H6461081ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent
HP:0009888HP:0002215Sparse axillary hair2CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndromeHP:0040283 - Occasional147
HP:0009888HP:0002215Sparse axillary hair2CCDC141 CL E G H28502526821OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0009888HP:0002225Sparse pubic hair2CCDC141 CL E G H28502526821OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0009888HP:0002225Sparse pubic hair2COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent129
HP:0009888HP:0002215Sparse axillary hair2COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent129
HP:0009888HP:0002215Sparse axillary hair2CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent2
HP:0009888HP:0002225Sparse pubic hair2CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent2
HP:0009888HP:0002215Sparse axillary hair2CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent53
HP:0009888HP:0002225Sparse pubic hair2CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent53
HP:0009888HP:0002555Absent pubic hair2CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040283 - Occasional53
HP:0009888HP:0002221Absent axillary hair2CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040283 - Occasional53
HP:0009888HP:0002215Sparse axillary hair2DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0009888HP:0002225Sparse pubic hair2DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0009888HP:0002215Sparse axillary hair2DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent1
HP:0009888HP:0002225Sparse pubic hair2DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent1
HP:0009888HP:0002215Sparse axillary hair2DSC3 CL E G H18253037OMIM:613102HYPOTRICHOSIS AND RECURRENT SKIN VESICLES2
HP:0009888HP:0002215Sparse axillary hair2DUSP6 CL E G H18483072OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.4
HP:0009888HP:0002225Sparse pubic hair2DUSP6 CL E G H18483072OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.4
HP:0009888HP:0002555Absent pubic hair2EPS8L3 CL E G H7957421297OMIM:612841Hypotrichosis 5.
HP:0009888HP:0002221Absent axillary hair2EPS8L3 CL E G H7957421297OMIM:612841Hypotrichosis 5.
HP:0009888HP:0002215Sparse axillary hair2FAT4 CL E G H7963323109ORPHA:2136Hennekam syndromeHP:0040283 - Occasional114
HP:0009888HP:0002225Sparse pubic hair2FEZF1 CL E G H38954922788OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.2
HP:0009888HP:0002215Sparse axillary hair2FEZF1 CL E G H38954922788OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.2
HP:0009888HP:0002215Sparse axillary hair2FGF17 CL E G H88223673OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.3
HP:0009888HP:0002225Sparse pubic hair2FGF17 CL E G H88223673OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.3
HP:0009888HP:0002225Sparse pubic hair2FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis.92
HP:0009888HP:0002225Sparse pubic hair2FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiencyHP:0040281 - Very frequent23
HP:0009888HP:0002215Sparse axillary hair2FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiencyHP:0040281 - Very frequent23
HP:0009888HP:0002225Sparse pubic hair2FSHR CL E G H24923969ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent50
HP:0009888HP:0002225Sparse pubic hair2GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent87
HP:0009888HP:0002215Sparse axillary hair2GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent87
HP:0009888HP:0002555Absent pubic hair2GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0009888HP:0002221Absent axillary hair2GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0009888HP:0002555Absent pubic hair2GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0009888HP:0002221Absent axillary hair2GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0009888HP:0002221Absent axillary hair2GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0009888HP:0002215Sparse axillary hair2GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasiaHP:0040281 - Very frequent56
HP:0009888HP:0002225Sparse pubic hair2GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasiaHP:0040281 - Very frequent56
HP:0009888HP:0002555Absent pubic hair2GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0009888HP:0002555Absent pubic hair2GNRH1 CL E G H27964419OMIM:614841Hypogonadotropic hypogonadism 12 with or without anosmia15
HP:0009888HP:0002215Sparse axillary hair2GNRH1 CL E G H27964419OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.15
HP:0009888HP:0002225Sparse pubic hair2GNRH1 CL E G H27964419OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.15
HP:0009888HP:0002215Sparse axillary hair2GNRHR CL E G H27984421OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.92
HP:0009888HP:0002225Sparse pubic hair2GNRHR CL E G H27984421OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.92
HP:0009888HP:0002225Sparse pubic hair2HLA-DRA CL E G H31224947ORPHA:505Graham Little-Piccardi-Lassueur syndromeHP:0040281 - Very frequent
HP:0009888HP:0002215Sparse axillary hair2HLA-DRA CL E G H31224947ORPHA:505Graham Little-Piccardi-Lassueur syndromeHP:0040281 - Very frequent
HP:0009888HP:0002221Absent axillary hair2HR CL E G H558065172OMIM:203655Alopecia universalis congenita106
HP:0009888HP:0002555Absent pubic hair2HR CL E G H558065172OMIM:203655Alopecia universalis congenita106
HP:0009888HP:0002555Absent pubic hair2ITGB4 CL E G H36916158OMIM:619816EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A124
HP:0009888HP:0002221Absent axillary hair2ITGB4 CL E G H36916158OMIM:619816EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A124
HP:0009888HP:0002225Sparse pubic hair2ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent124
HP:0009888HP:0002215Sparse axillary hair2ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent124
HP:0009888HP:0002225Sparse pubic hair2LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia.9
HP:0009888HP:0002215Sparse axillary hair2LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia.9
HP:0009888HP:0002215Sparse axillary hair2LIPH CL E G H20087918483OMIM:604379Hypotrichosis 712
HP:0009888HP:0002215Sparse axillary hair2LPAR6 CL E G H1016115520OMIM:278150Hypotrichosis 8HP:0040283 - Occasional8
HP:0009888HP:0002225Sparse pubic hair2LSS CL E G H40476708OMIM:618275Hypotrichosis 142
HP:0009888HP:0002221Absent axillary hair2LSS CL E G H40476708OMIM:618275Hypotrichosis 142
HP:0009888HP:0002215Sparse axillary hair2MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent13
HP:0009888HP:0002225Sparse pubic hair2MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent13
HP:0009888HP:0002215Sparse axillary hair2MAP3K1 CL E G H42146848OMIM:61376246,xy sex reversal 6.13
HP:0009888HP:0002225Sparse pubic hair2MDM2 CL E G H41936973OMIM:618681LESSEL-KUBISCH SYNDROME; LSKB1
HP:0009888HP:0002225Sparse pubic hair2MRPS22 CL E G H5694514508ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent25
HP:0009888HP:0002225Sparse pubic hair2NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent48
HP:0009888HP:0002215Sparse axillary hair2NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent48
HP:0009888HP:0002225Sparse pubic hair2NR5A1 CL E G H25167983ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent38
HP:0009888HP:0002225Sparse pubic hair2NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent38
HP:0009888HP:0002215Sparse axillary hair2NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent38
HP:0009888HP:0002555Absent pubic hair2NR5A1 CL E G H25167983OMIM:612964PREMATURE OVARIAN FAILURE 7; POF738
HP:0009888HP:0002225Sparse pubic hair2NUP107 CL E G H5712229914ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent5
HP:0009888HP:0002215Sparse axillary hair2ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0009888HP:0002225Sparse pubic hair2ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0009888HP:0002225Sparse pubic hair2POLR3H CL E G H17156830349ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent
HP:0009888HP:0002221Absent axillary hair2PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy.
HP:0009888HP:0002225Sparse pubic hair2PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy.
HP:0009888HP:0002215Sparse axillary hair2PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0009888HP:0002225Sparse pubic hair2PSMC3IP CL E G H2989317928ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent2
HP:0009888HP:0002215Sparse axillary hair2SEMA3E CL E G H972310727OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.16
HP:0009888HP:0002225Sparse pubic hair2SEMA3E CL E G H972310727OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.16
HP:0009888HP:0002221Absent axillary hair2SNRPE CL E G H663511161OMIM:615059Hypotrichosis 11.2
HP:0009888HP:0002225Sparse pubic hair2SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent109
HP:0009888HP:0002215Sparse axillary hair2SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent109
HP:0009888HP:0002225Sparse pubic hair2SPIDR CL E G H2351428971ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent2
HP:0009888HP:0002215Sparse axillary hair2SPRY4 CL E G H8184815533OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.5
HP:0009888HP:0002225Sparse pubic hair2SPRY4 CL E G H8184815533OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.5
HP:0009888HP:0002225Sparse pubic hair2SRA1 CL E G H1001111281OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0009888HP:0002215Sparse axillary hair2SRA1 CL E G H1001111281OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0009888HP:0002225Sparse pubic hair2SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent23
HP:0009888HP:0002215Sparse axillary hair2SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent23
HP:0009888HP:0002215Sparse axillary hair2TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome.100
HP:0009888HP:0002221Absent axillary hair2TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndromeHP:0040281 - Very frequent100
HP:0009888HP:0002215Sparse axillary hair2TP63 CL E G H862615979OMIM:103285Adult syndrome.140
HP:0009888HP:0002215Sparse axillary hair2TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0009888HP:0002225Sparse pubic hair2TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0009888HP:0002225Sparse pubic hair2VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0009888HP:0002215Sparse axillary hair2VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0009888HP:0002215Sparse axillary hair2WDR11 CL E G H5571713831OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.10
HP:0009888HP:0002225Sparse pubic hair2WDR11 CL E G H5571713831OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.10
HP:0009888HP:0002215Sparse axillary hair2WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent177
HP:0009888HP:0002225Sparse pubic hair2WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent177
HP:0009888HP:0002225Sparse pubic hair2WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent149
HP:0009888HP:0002215Sparse axillary hair2WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent149
HP:0009888HP:0002221Absent axillary hair2ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome.17
HP:0009888HP:0002215Sparse axillary hair2ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent31
HP:0009888HP:0002225Sparse pubic hair2ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent31
HP:0009888HP:0002225Sparse pubic hair2ZSWIM7 CL E G H12515026993ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent


Genes (72) :ADAMTS3 ANOS1 APCDD1 APOE AR AXIN2 AXL BMP15 BNC1 CCBE1 CCDC141 COL17A1 CYB5A CYP17A1 DHX37 DMRT3 DSC3 DUSP6 EPS8L3 FAT4 FEZF1 FGF17 FOXA2 FOXL2 FSHB FSHR GATA4 GJB2 GJB6 GLI2 GNRH1 GNRHR HESX1 HLA-DRA HR ITGB4 LHB LHX4 LIPH LPAR6 LSS MAP3K1 MDM2 MRPS22 NR0B1 NR5A1 NUP107 ORC6 OTX2 POLR3H POU1F1 PPP2R3C PROP1 PSMB8 PSMC3IP SEMA3E SNRPE SOX3 SOX9 SPIDR SPRY4 SRA1 SRY TBX3 TP63 VAMP7 WDR11 WT1 WWOX ZBTB20 ZFPM2 ZSWIM7

Diseases (43) :ORPHA:2136 OMIM:308700 OMIM:605389 OMIM:269600 OMIM:300068 ORPHA:99429 ORPHA:90797 OMIM:608615 OMIM:146110 ORPHA:243 ORPHA:251393 ORPHA:90796 ORPHA:90793 ORPHA:251510 OMIM:613102 OMIM:612841 ORPHA:95494 OMIM:110100 ORPHA:52901 OMIM:148210 OMIM:129500 ORPHA:189 OMIM:614841 ORPHA:505 OMIM:203655 OMIM:619816 OMIM:228300 OMIM:604379 OMIM:278150 OMIM:618275 OMIM:613762 OMIM:618681 OMIM:612964 OMIM:613803 OMIM:618419 ORPHA:90695 OMIM:256040 OMIM:615059 OMIM:181450 ORPHA:3138 OMIM:103285 OMIM:604292 OMIM:259050
 

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