Human Phenotype Ontology 
Grandparent Node:
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obsolete Abnormality of hair density (HP:0011357)help
Parent Node:
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Abnormality of the pubic hair (HP:0100133)help
Parent Node:
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Sparse hair (HP:0008070)help
..Starting node
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Sparse pubic hair (HP:0002225)help
Term ID: 2225
Name: Sparse pubic hair
Synonym: Decreased sexual hair; Sparse pubic hair; sparse to absent pubic hair
Definition: Reduced number or density of pubic hair.
Comments:
Reference: HP:0002225
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandSparse axillary hair (HP:0002215) help
..expandSparse body hair (HP:0002231) help
..expandSparse eyelashes (HP:0000653) help
..expandSparse facial hair (HP:0007464) help
..expandSparse scalp hair (HP:0002209) 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:0002225HP:0002225Sparse pubic hair0ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia.65
HP:0002225HP:0002225Sparse pubic hair0APCDD1 CL E G H14749515718OMIM:605389Hypotrichosis 1HP:0040284 - Very rare1
HP:0002225HP:0002225Sparse pubic hair0AR CL E G H367644OMIM:300068Androgen insensitivity syndrome.125
HP:0002225HP:0002225Sparse pubic hair0AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndromeHP:0040282 - Frequent125
HP:0002225HP:0002225Sparse pubic hair0AXL CL E G H558905OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0002225HP:0002225Sparse pubic hair0BMP15 CL E G H92101068ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent16
HP:0002225HP:0002225Sparse pubic hair0BNC1 CL E G H6461081ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent
HP:0002225HP:0002225Sparse pubic hair0CCDC141 CL E G H28502526821OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0002225HP:0002225Sparse pubic hair0COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent129
HP:0002225HP:0002225Sparse pubic hair0CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent2
HP:0002225HP:0002225Sparse pubic hair0CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent53
HP:0002225HP:0002225Sparse pubic hair0DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0002225HP:0002225Sparse pubic hair0DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent1
HP:0002225HP:0002225Sparse pubic hair0DUSP6 CL E G H18483072OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.4
HP:0002225HP:0002225Sparse pubic hair0FEZF1 CL E G H38954922788OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.2
HP:0002225HP:0002225Sparse pubic hair0FGF17 CL E G H88223673OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.3
HP:0002225HP:0002225Sparse pubic hair0FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis.92
HP:0002225HP:0002225Sparse pubic hair0FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiencyHP:0040281 - Very frequent23
HP:0002225HP:0002225Sparse pubic hair0FSHR CL E G H24923969ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent50
HP:0002225HP:0002225Sparse pubic hair0GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent87
HP:0002225HP:0002225Sparse pubic hair0GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasiaHP:0040281 - Very frequent56
HP:0002225HP:0002225Sparse pubic hair0GNRH1 CL E G H27964419OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.15
HP:0002225HP:0002225Sparse pubic hair0GNRHR CL E G H27984421OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.92
HP:0002225HP:0002225Sparse pubic hair0HLA-DRA CL E G H31224947ORPHA:505Graham Little-Piccardi-Lassueur syndromeHP:0040281 - Very frequent
HP:0002225HP:0002225Sparse pubic hair0ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040282 - Frequent124
HP:0002225HP:0002225Sparse pubic hair0LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia.9
HP:0002225HP:0002225Sparse pubic hair0LSS CL E G H40476708OMIM:618275Hypotrichosis 142
HP:0002225HP:0002225Sparse pubic hair0MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent13
HP:0002225HP:0002225Sparse pubic hair0MDM2 CL E G H41936973OMIM:618681LESSEL-KUBISCH SYNDROME; LSKB1
HP:0002225HP:0002225Sparse pubic hair0MRPS22 CL E G H5694514508ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent25
HP:0002225HP:0002225Sparse pubic hair0NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent48
HP:0002225HP:0002225Sparse pubic hair0NR5A1 CL E G H25167983ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent38
HP:0002225HP:0002225Sparse pubic hair0NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent38
HP:0002225HP:0002225Sparse pubic hair0NUP107 CL E G H5712229914ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent5
HP:0002225HP:0002225Sparse pubic hair0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0002225HP:0002225Sparse pubic hair0POLR3H CL E G H17156830349ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent
HP:0002225HP:0002225Sparse pubic hair0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy.
HP:0002225HP:0002225Sparse pubic hair0PSMC3IP CL E G H2989317928ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent2
HP:0002225HP:0002225Sparse pubic hair0SEMA3E CL E G H972310727OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.16
HP:0002225HP:0002225Sparse pubic hair0SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent109
HP:0002225HP:0002225Sparse pubic hair0SPIDR CL E G H2351428971ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent2
HP:0002225HP:0002225Sparse pubic hair0SPRY4 CL E G H8184815533OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.5
HP:0002225HP:0002225Sparse pubic hair0SRA1 CL E G H1001111281OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0002225HP:0002225Sparse pubic hair0SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent23
HP:0002225HP:0002225Sparse pubic hair0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0002225HP:0002225Sparse pubic hair0VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0002225HP:0002225Sparse pubic hair0WDR11 CL E G H5571713831OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.10
HP:0002225HP:0002225Sparse pubic hair0WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent177
HP:0002225HP:0002225Sparse pubic hair0WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent149
HP:0002225HP:0002225Sparse pubic hair0ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent31
HP:0002225HP:0002225Sparse pubic hair0ZSWIM7 CL E G H12515026993ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent


Genes (49) :ANOS1 APCDD1 AR AXL BMP15 BNC1 CCDC141 COL17A1 CYB5A CYP17A1 DHX37 DMRT3 DUSP6 FEZF1 FGF17 FOXL2 FSHB FSHR GATA4 GJB6 GNRH1 GNRHR HLA-DRA 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 (19) :OMIM:308700 OMIM:605389 OMIM:300068 ORPHA:99429 OMIM:146110 ORPHA:243 ORPHA:251393 ORPHA:90796 ORPHA:251510 OMIM:110100 ORPHA:52901 ORPHA:189 ORPHA:505 OMIM:228300 OMIM:618275 OMIM:618681 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.