Human Phenotype Ontology 
Grandparent Node:
expand
obsolete Abnormality of hair density (HP:0011357)help
Parent Node:
expand
Sparse hair (HP:0008070)help
..Starting node
..expand
Sparse body hair (HP:0002231)help
Term ID: 2231
Name: Sparse body hair
Synonym: Limited body hair; Little body hair; Sparse body hair; Sparse to absent body hair
Definition: Sparseness of the body hair.
Comments:
Reference: HP:0002231
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandSparse axillary hair (HP:0002215) help
..expandSparse eyelashes (HP:0000653) help
..expandSparse facial hair (HP:0007464) help
..expandSparse pubic hair (HP:0002225) 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:0002231HP:0002231Sparse body hair0AHSG CL E G H197349ORPHA:2850Alopecia-intellectual disability syndromeHP:0040281 - Very frequent5
HP:0002231HP:0002231Sparse body hair0APCDD1 CL E G H14749515718OMIM:605389Hypotrichosis 1.1
HP:0002231HP:0002231Sparse body hair0APCDD1 CL E G H14749515718ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent1
HP:0002231HP:0002231Sparse body hair0AXIN2 CL E G H8313904OMIM:608615OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS435
HP:0002231HP:0002231Sparse body hair0CDH3 CL E G H10011762ORPHA:1897EEM syndromeHP:0040281 - Very frequent87
HP:0002231HP:0002231Sparse body hair0CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent515
HP:0002231HP:0002231Sparse body hair0CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndromeHP:0040281 - Very frequent11
HP:0002231HP:0002231Sparse body hair0COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent129
HP:0002231HP:0002231Sparse body hair0CST6 CL E G H14742478OMIM:618535Ectodermal dysplasia 15, Hypohidrotic/hair type.
HP:0002231HP:0002231Sparse body hair0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040283 - Occasional50
HP:0002231HP:0002231Sparse body hair0CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent2
HP:0002231HP:0002231Sparse body hair0CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent53
HP:0002231HP:0002231Sparse body hair0DSC3 CL E G H18253037OMIM:613102HYPOTRICHOSIS AND RECURRENT SKIN VESICLES2
HP:0002231HP:0002231Sparse body hair0DSG4 CL E G H14740921307ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent63
HP:0002231HP:0002231Sparse body hair0DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent4
HP:0002231HP:0002231Sparse body hair0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked115
HP:0002231HP:0002231Sparse body hair0EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent115
HP:0002231HP:0002231Sparse body hair0EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent11
HP:0002231HP:0002231Sparse body hair0EDAR CL E G H109132895ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent86
HP:0002231HP:0002231Sparse body hair0EDARADD CL E G H12817814341ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent56
HP:0002231HP:0002231Sparse body hair0EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0002231HP:0002231Sparse body hair0FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0002231HP:0002231Sparse body hair0FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent17
HP:0002231HP:0002231Sparse body hair0FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent172
HP:0002231HP:0002231Sparse body hair0FMR1 CL E G H23323775ORPHA:261483Xq27.3q28 duplication syndromeHP:0040282 - Frequent30
HP:0002231HP:0002231Sparse body hair0GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent15
HP:0002231HP:0002231Sparse body hair0GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent92
HP:0002231HP:0002231Sparse body hair0HRURF CL E G H12076613755085OMIM:146550Marie unna hereditary hypotrichosis 1.
HP:0002231HP:0002231Sparse body hair0HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent8
HP:0002231HP:0002231Sparse body hair0ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent124
HP:0002231HP:0002231Sparse body hair0ITGB6 CL E G H36946161ORPHA:2850Alopecia-intellectual disability syndromeHP:0040281 - Very frequent8
HP:0002231HP:0002231Sparse body hair0JUP CL E G H37286207OMIM:601214Naxos disease.222
HP:0002231HP:0002231Sparse body hair0KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair.1
HP:0002231HP:0002231Sparse body hair0KDF1 CL E G H12669526624ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent1
HP:0002231HP:0002231Sparse body hair0KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0002231HP:0002231Sparse body hair0KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent14
HP:0002231HP:0002231Sparse body hair0KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss.5
HP:0002231HP:0002231Sparse body hair0KRT25 CL E G H14718330839ORPHA:170Woolly hairHP:0040283 - Occasional2
HP:0002231HP:0002231Sparse body hair0KRT71 CL E G H11280228927ORPHA:170Woolly hairHP:0040283 - Occasional1
HP:0002231HP:0002231Sparse body hair0KRT74 CL E G H12139128929ORPHA:170Woolly hairHP:0040283 - Occasional5
HP:0002231HP:0002231Sparse body hair0KRT85 CL E G H38916462OMIM:602032Ectodermal dysplasia 4, Hair/nail typeHP:0040283 - Occasional2
HP:0002231HP:0002231Sparse body hair0LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent116
HP:0002231HP:0002231Sparse body hair0LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent167
HP:0002231HP:0002231Sparse body hair0LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent135
HP:0002231HP:0002231Sparse body hair0LIPH CL E G H20087918483OMIM:604379Hypotrichosis 712
HP:0002231HP:0002231Sparse body hair0LIPH CL E G H20087918483ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent12
HP:0002231HP:0002231Sparse body hair0LIPH CL E G H20087918483ORPHA:170Woolly hairHP:0040283 - Occasional12
HP:0002231HP:0002231Sparse body hair0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0002231HP:0002231Sparse body hair0LPAR6 CL E G H1016115520ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent8
HP:0002231HP:0002231Sparse body hair0LPAR6 CL E G H1016115520ORPHA:170Woolly hairHP:0040283 - Occasional8
HP:0002231HP:0002231Sparse body hair0LSS CL E G H40476708ORPHA:2850Alopecia-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0002231HP:0002231Sparse body hair0LSS CL E G H40476708OMIM:618275Hypotrichosis 14.2
HP:0002231HP:0002231Sparse body hair0LSS CL E G H40476708ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent2
HP:0002231HP:0002231Sparse body hair0NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0002231HP:0002231Sparse body hair0PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent9
HP:0002231HP:0002231Sparse body hair0PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0002231HP:0002231Sparse body hair0RPL21 CL E G H614410313ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent1
HP:0002231HP:0002231Sparse body hair0SNRPE CL E G H663511161ORPHA:55654Hypotrichosis simplexHP:0040281 - Very frequent2
HP:0002231HP:0002231Sparse body hair0SOX18 CL E G H5434511194ORPHA:69735Hypotrichosis-lymphedema-telangiectasia-renal defect syndromeHP:0040281 - Very frequent7
HP:0002231HP:0002231Sparse body hair0SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent5
HP:0002231HP:0002231Sparse body hair0ST14 CL E G H676811344OMIM:602400Ichthyosis, congenital, autosomal recessive 114
HP:0002231HP:0002231Sparse body hair0TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0002231HP:0002231Sparse body hair0TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0002231HP:0002231Sparse body hair0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0002231HP:0002231Sparse body hair0TRAF6 CL E G H718912036ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent
HP:0002231HP:0002231Sparse body hair0WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent10
HP:0002231HP:0002231Sparse body hair0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0002231HP:0002231Sparse body hair0WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0002231HP:0002231Sparse body hair0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17


Genes (60) :AHSG APCDD1 AXIN2 CDH3 CHD7 CLDN1 COL17A1 CST6 CTSC CYB5A CYP17A1 DSC3 DSG4 DUSP6 EDA EDA2R EDAR EDARADD FGF17 FGF8 FGFR1 FMR1 GNRH1 GNRHR HRURF HS6ST1 ITGB4 ITGB6 JUP KANK2 KDF1 KISS1 KISS1R KLHL24 KRT25 KRT71 KRT74 KRT85 LAMA3 LAMB3 LAMC2 LIPH LMNA LPAR6 LSS NSMF PROK2 PROKR2 RPL21 SNRPE SOX18 SPRY4 ST14 TAC3 TACR3 TP63 TRAF6 WDR11 WNT10A ZBTB20

Diseases (32) :ORPHA:2850 OMIM:605389 ORPHA:55654 OMIM:608615 ORPHA:1897 ORPHA:432 ORPHA:59303 ORPHA:79402 OMIM:618535 ORPHA:678 ORPHA:90796 OMIM:613102 OMIM:305100 ORPHA:181 ORPHA:1810 OMIM:614941 ORPHA:261483 OMIM:146550 OMIM:601214 OMIM:616099 OMIM:617294 ORPHA:170 OMIM:602032 OMIM:604379 ORPHA:79474 OMIM:618275 ORPHA:69735 OMIM:602400 OMIM:106260 OMIM:257980 OMIM:150400 OMIM:259050
 

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