Human Phenotype Ontology 
Grandparent Node:
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Abnormal hair morphology (HP:0001595)help
Parent Node:
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Abnormality of secondary sexual hair (HP:0009888)help
..Starting node
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Abnormality of the pubic hair (HP:0100133)help
Term ID: 100133
Name: Abnormality of the pubic hair
Synonym: Abnormality of the pubic hair
Definition: Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty.
Comments:
Reference: HP:0100133
Genes and Diseases:
 
       Child Nodes:
........expandSparse pubic hair (HP:0002225) help
........expandAbsent pubic hair (HP:0002555) help

 Sister Nodes: 
..expandAbnormality of the axillary hair (HP:0100134) 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:0100133HP:0100133Abnormality of the pubic hair0ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia65
HP:0100133HP:0100133Abnormality of the pubic hair0APCDD1 CL E G H14749515718OMIM:605389Hypotrichosis 11
HP:0100133HP:0100133Abnormality of the pubic hair0AR CL E G H367644OMIM:300068Androgen insensitivity syndrome125
HP:0100133HP:0100133Abnormality of the pubic hair0AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndrome125
HP:0100133HP:0100133Abnormality of the pubic hair0AXL CL E G H558905OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0100133HP:0100133Abnormality of the pubic hair0BMP15 CL E G H92101068ORPHA:24346,XX gonadal dysgenesis16
HP:0100133HP:0100133Abnormality of the pubic hair0BNC1 CL E G H6461081ORPHA:24346,XX gonadal dysgenesis
HP:0100133HP:0100133Abnormality of the pubic hair0CCDC141 CL E G H28502526821OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0100133HP:0100133Abnormality of the pubic hair0COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosa129
HP:0100133HP:0100133Abnormality of the pubic hair0CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency2
HP:0100133HP:0100133Abnormality of the pubic hair0CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency53
HP:0100133HP:0100133Abnormality of the pubic hair0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency53
HP:0100133HP:0100133Abnormality of the pubic hair0DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0100133HP:0100133Abnormality of the pubic hair0DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesis1
HP:0100133HP:0100133Abnormality of the pubic hair0DUSP6 CL E G H18483072OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia4
HP:0100133HP:0100133Abnormality of the pubic hair0EPS8L3 CL E G H7957421297OMIM:612841Hypotrichosis 5
HP:0100133HP:0100133Abnormality of the pubic hair0FEZF1 CL E G H38954922788OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia2
HP:0100133HP:0100133Abnormality of the pubic hair0FGF17 CL E G H88223673OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia3
HP:0100133HP:0100133Abnormality of the pubic hair0FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis92
HP:0100133HP:0100133Abnormality of the pubic hair0FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiency23
HP:0100133HP:0100133Abnormality of the pubic hair0FSHR CL E G H24923969ORPHA:24346,XX gonadal dysgenesis50
HP:0100133HP:0100133Abnormality of the pubic hair0GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesis87
HP:0100133HP:0100133Abnormality of the pubic hair0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0100133HP:0100133Abnormality of the pubic hair0GJB6 CL E G H108044288OMIM:129500Clouston syndrome56
HP:0100133HP:0100133Abnormality of the pubic hair0GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0100133HP:0100133Abnormality of the pubic hair0GNRH1 CL E G H27964419OMIM:614841Hypogonadotropic hypogonadism 12 with or without anosmia15
HP:0100133HP:0100133Abnormality of the pubic hair0GNRH1 CL E G H27964419OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia15
HP:0100133HP:0100133Abnormality of the pubic hair0GNRHR CL E G H27984421OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia92
HP:0100133HP:0100133Abnormality of the pubic hair0HLA-DRA CL E G H31224947ORPHA:505Graham Little-Piccardi-Lassueur syndrome
HP:0100133HP:0100133Abnormality of the pubic hair0HR CL E G H558065172OMIM:203655Alopecia universalis congenita106
HP:0100133HP:0100133Abnormality of the pubic hair0ITGB4 CL E G H36916158OMIM:619816EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A124
HP:0100133HP:0100133Abnormality of the pubic hair0ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosa124
HP:0100133HP:0100133Abnormality of the pubic hair0LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia9
HP:0100133HP:0100133Abnormality of the pubic hair0LSS CL E G H40476708OMIM:618275Hypotrichosis 142
HP:0100133HP:0100133Abnormality of the pubic hair0MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesis13
HP:0100133HP:0100133Abnormality of the pubic hair0MDM2 CL E G H41936973OMIM:618681LESSEL-KUBISCH SYNDROME; LSKB1
HP:0100133HP:0100133Abnormality of the pubic hair0MRPS22 CL E G H5694514508ORPHA:24346,XX gonadal dysgenesis25
HP:0100133HP:0100133Abnormality of the pubic hair0NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesis48
HP:0100133HP:0100133Abnormality of the pubic hair0NR5A1 CL E G H25167983ORPHA:24346,XX gonadal dysgenesis38
HP:0100133HP:0100133Abnormality of the pubic hair0NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesis38
HP:0100133HP:0100133Abnormality of the pubic hair0NR5A1 CL E G H25167983OMIM:612964PREMATURE OVARIAN FAILURE 7; POF738
HP:0100133HP:0100133Abnormality of the pubic hair0NUP107 CL E G H5712229914ORPHA:24346,XX gonadal dysgenesis5
HP:0100133HP:0100133Abnormality of the pubic hair0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 339
HP:0100133HP:0100133Abnormality of the pubic hair0POLR3H CL E G H17156830349ORPHA:24346,XX gonadal dysgenesis
HP:0100133HP:0100133Abnormality of the pubic hair0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0100133HP:0100133Abnormality of the pubic hair0PSMC3IP CL E G H2989317928ORPHA:24346,XX gonadal dysgenesis2
HP:0100133HP:0100133Abnormality of the pubic hair0SEMA3E CL E G H972310727OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia16
HP:0100133HP:0100133Abnormality of the pubic hair0SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesis109
HP:0100133HP:0100133Abnormality of the pubic hair0SPIDR CL E G H2351428971ORPHA:24346,XX gonadal dysgenesis2
HP:0100133HP:0100133Abnormality of the pubic hair0SPRY4 CL E G H8184815533OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia5
HP:0100133HP:0100133Abnormality of the pubic hair0SRA1 CL E G H1001111281OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0100133HP:0100133Abnormality of the pubic hair0SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesis23
HP:0100133HP:0100133Abnormality of the pubic hair0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0100133HP:0100133Abnormality of the pubic hair0VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0100133HP:0100133Abnormality of the pubic hair0WDR11 CL E G H5571713831OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia10
HP:0100133HP:0100133Abnormality of the pubic hair0WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesis177
HP:0100133HP:0100133Abnormality of the pubic hair0WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesis149
HP:0100133HP:0100133Abnormality of the pubic hair0ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesis31
HP:0100133HP:0100133Abnormality of the pubic hair0ZSWIM7 CL E G H12515026993ORPHA:24346,XX gonadal dysgenesis
HP:0100133HP:0002225Sparse pubic hair1ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia.65
HP:0100133HP:0002225Sparse pubic hair1APCDD1 CL E G H14749515718OMIM:605389Hypotrichosis 1HP:0040284 - Very rare1
HP:0100133HP:0002225Sparse pubic hair1AR CL E G H367644OMIM:300068Androgen insensitivity syndrome.125
HP:0100133HP:0002225Sparse pubic hair1AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndromeHP:0040282 - Frequent125
HP:0100133HP:0002555Absent pubic hair1AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndromeHP:0040282 - Frequent125
HP:0100133HP:0002225Sparse pubic hair1AXL CL E G H558905OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0100133HP:0002225Sparse pubic hair1BMP15 CL E G H92101068ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent16
HP:0100133HP:0002225Sparse pubic hair1BNC1 CL E G H6461081ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent
HP:0100133HP:0002225Sparse pubic hair1CCDC141 CL E G H28502526821OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0100133HP:0002225Sparse pubic hair1COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent129
HP:0100133HP:0002225Sparse pubic hair1CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent2
HP:0100133HP:0002225Sparse pubic hair1CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent53
HP:0100133HP:0002555Absent pubic hair1CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040283 - Occasional53
HP:0100133HP:0002225Sparse pubic hair1DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0100133HP:0002225Sparse pubic hair1DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent1
HP:0100133HP:0002225Sparse pubic hair1DUSP6 CL E G H18483072OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.4
HP:0100133HP:0002555Absent pubic hair1EPS8L3 CL E G H7957421297OMIM:612841Hypotrichosis 5.
HP:0100133HP:0002225Sparse pubic hair1FEZF1 CL E G H38954922788OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.2
HP:0100133HP:0002225Sparse pubic hair1FGF17 CL E G H88223673OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.3
HP:0100133HP:0002225Sparse pubic hair1FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis.92
HP:0100133HP:0002225Sparse pubic hair1FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiencyHP:0040281 - Very frequent23
HP:0100133HP:0002225Sparse pubic hair1FSHR CL E G H24923969ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent50
HP:0100133HP:0002225Sparse pubic hair1GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent87
HP:0100133HP:0002555Absent pubic hair1GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0100133HP:0002555Absent pubic hair1GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0100133HP:0002225Sparse pubic hair1GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasiaHP:0040281 - Very frequent56
HP:0100133HP:0002555Absent pubic hair1GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0100133HP:0002555Absent pubic hair1GNRH1 CL E G H27964419OMIM:614841Hypogonadotropic hypogonadism 12 with or without anosmia15
HP:0100133HP:0002225Sparse pubic hair1GNRH1 CL E G H27964419OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.15
HP:0100133HP:0002225Sparse pubic hair1GNRHR CL E G H27984421OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.92
HP:0100133HP:0002225Sparse pubic hair1HLA-DRA CL E G H31224947ORPHA:505Graham Little-Piccardi-Lassueur syndromeHP:0040281 - Very frequent
HP:0100133HP:0002555Absent pubic hair1HR CL E G H558065172OMIM:203655Alopecia universalis congenita106
HP:0100133HP:0002555Absent pubic hair1ITGB4 CL E G H36916158OMIM:619816EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A124
HP:0100133HP:0002225Sparse pubic hair1ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent124
HP:0100133HP:0002225Sparse pubic hair1LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia.9
HP:0100133HP:0002225Sparse pubic hair1LSS CL E G H40476708OMIM:618275Hypotrichosis 142
HP:0100133HP:0002225Sparse pubic hair1MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent13
HP:0100133HP:0002225Sparse pubic hair1MDM2 CL E G H41936973OMIM:618681LESSEL-KUBISCH SYNDROME; LSKB1
HP:0100133HP:0002225Sparse pubic hair1MRPS22 CL E G H5694514508ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent25
HP:0100133HP:0002225Sparse pubic hair1NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent48
HP:0100133HP:0002225Sparse pubic hair1NR5A1 CL E G H25167983ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent38
HP:0100133HP:0002225Sparse pubic hair1NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent38
HP:0100133HP:0002555Absent pubic hair1NR5A1 CL E G H25167983OMIM:612964PREMATURE OVARIAN FAILURE 7; POF738
HP:0100133HP:0002225Sparse pubic hair1NUP107 CL E G H5712229914ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent5
HP:0100133HP:0002225Sparse pubic hair1ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0100133HP:0002225Sparse pubic hair1POLR3H CL E G H17156830349ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent
HP:0100133HP:0002225Sparse pubic hair1PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy.
HP:0100133HP:0002225Sparse pubic hair1PSMC3IP CL E G H2989317928ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent2
HP:0100133HP:0002225Sparse pubic hair1SEMA3E CL E G H972310727OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.16
HP:0100133HP:0002225Sparse pubic hair1SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent109
HP:0100133HP:0002225Sparse pubic hair1SPIDR CL E G H2351428971ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent2
HP:0100133HP:0002225Sparse pubic hair1SPRY4 CL E G H8184815533OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.5
HP:0100133HP:0002225Sparse pubic hair1SRA1 CL E G H1001111281OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0100133HP:0002225Sparse pubic hair1SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent23
HP:0100133HP:0002225Sparse pubic hair1TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0100133HP:0002225Sparse pubic hair1VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0100133HP:0002225Sparse pubic hair1WDR11 CL E G H5571713831OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.10
HP:0100133HP:0002225Sparse pubic hair1WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent177
HP:0100133HP:0002225Sparse pubic hair1WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent149
HP:0100133HP:0002225Sparse pubic hair1ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent31
HP:0100133HP:0002225Sparse pubic hair1ZSWIM7 CL E G H12515026993ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent


Genes (52) :ANOS1 APCDD1 AR AXL BMP15 BNC1 CCDC141 COL17A1 CYB5A CYP17A1 DHX37 DMRT3 DUSP6 EPS8L3 FEZF1 FGF17 FOXL2 FSHB FSHR GATA4 GJB2 GJB6 GNRH1 GNRHR HLA-DRA HR ITGB4 LHB LSS MAP3K1 MDM2 MRPS22 NR0B1 NR5A1 NUP107 ORC6 POLR3H PPP2R3C PSMC3IP SEMA3E SOX9 SPIDR SPRY4 SRA1 SRY TP63 VAMP7 WDR11 WT1 WWOX ZFPM2 ZSWIM7

Diseases (27) :OMIM:308700 OMIM:605389 OMIM:300068 ORPHA:99429 OMIM:146110 ORPHA:243 ORPHA:251393 ORPHA:90796 ORPHA:90793 ORPHA:251510 OMIM:612841 OMIM:110100 ORPHA:52901 OMIM:148210 OMIM:129500 ORPHA:189 OMIM:614841 ORPHA:505 OMIM:203655 OMIM:619816 OMIM:228300 OMIM:618275 OMIM:618681 OMIM:612964 OMIM:613803 OMIM:618419 OMIM:604292
 

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