Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin adnexa morphology (HP:0011138)help
Parent Node:
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Abnormal hair morphology (HP:0001595)help
..Starting node
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Abnormality of hair growth (HP:0040170)help
Term ID: 40170
Name: Abnormality of hair growth
Synonym:
Definition:
Comments:
Reference: HP:0040170
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of hair growth rate (HP:0011363) help
................... HP:0002217 Slow-growing hair
........expandLoose anagen hair (HP:0040169) help

 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 pigmentation (HP:0009887) help
..expandAbnormality of hair texture (HP:0010719) help
..expandAbnormality of secondary sexual hair (HP:0009888) 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:0040170HP:0040170Abnormality of hair growth0ADAM17 CL E G H6868195ORPHA:294023Neonatal inflammatory skin and bowel disease2
HP:0040170HP:0040170Abnormality of hair growth0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0040170HP:0040170Abnormality of hair growth0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0040170HP:0040170Abnormality of hair growth0CDSN CL E G H10411802ORPHA:90368Hypotrichosis simplex of the scalp7
HP:0040170HP:0040170Abnormality of hair growth0CST6 CL E G H14742478OMIM:618535Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0040170HP:0040170Abnormality of hair growth0DSG4 CL E G H14740921307ORPHA:573Monilethrix63
HP:0040170HP:0040170Abnormality of hair growth0EDAR CL E G H109132895OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant86
HP:0040170HP:0040170Abnormality of hair growth0EDARADD CL E G H12817814341OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant56
HP:0040170HP:0040170Abnormality of hair growth0EGFR CL E G H19563236ORPHA:294023Neonatal inflammatory skin and bowel disease257
HP:0040170HP:0040170Abnormality of hair growth0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia68
HP:0040170HP:0040170Abnormality of hair growth0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0040170HP:0040170Abnormality of hair growth0GJB6 CL E G H108044288OMIM:129500Clouston syndrome56
HP:0040170HP:0040170Abnormality of hair growth0GTF2E2 CL E G H29614651OMIM:616943Trichothiodystrophy 6, nonphotosensitive2
HP:0040170HP:0040170Abnormality of hair growth0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0040170HP:0040170Abnormality of hair growth0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0040170HP:0040170Abnormality of hair growth0KRT25 CL E G H14718330839ORPHA:170Woolly hair2
HP:0040170HP:0040170Abnormality of hair growth0KRT71 CL E G H11280228927ORPHA:170Woolly hair1
HP:0040170HP:0040170Abnormality of hair growth0KRT74 CL E G H12139128929ORPHA:90368Hypotrichosis simplex of the scalp5
HP:0040170HP:0040170Abnormality of hair growth0KRT74 CL E G H12139128929ORPHA:170Woolly hair5
HP:0040170HP:0040170Abnormality of hair growth0KRT74 CL E G H12139128929OMIM:194300Woolly hair, autosomal dominant5
HP:0040170HP:0040170Abnormality of hair growth0KRT81 CL E G H38876458ORPHA:573Monilethrix3
HP:0040170HP:0040170Abnormality of hair growth0KRT83 CL E G H38896460ORPHA:573Monilethrix65
HP:0040170HP:0040170Abnormality of hair growth0KRT86 CL E G H38926463ORPHA:573Monilethrix10
HP:0040170HP:0040170Abnormality of hair growth0LIPH CL E G H20087918483ORPHA:170Woolly hair12
HP:0040170HP:0040170Abnormality of hair growth0LPAR6 CL E G H1016115520ORPHA:170Woolly hair8
HP:0040170HP:0040170Abnormality of hair growth0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0040170HP:0040170Abnormality of hair growth0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0040170HP:0040170Abnormality of hair growth0NR2F1 CL E G H70257975OMIM:615722Bosch-Boonstra-Schaaf optic atrophy syndrome37
HP:0040170HP:0040170Abnormality of hair growth0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0040170HP:0040170Abnormality of hair growth0RNF113A CL E G H773712974OMIM:300953Trichothiodystrophy 5, nonphotosensitive3
HP:0040170HP:0040170Abnormality of hair growth0RPL21 CL E G H614410313OMIM:615885Hypotrichosis 121
HP:0040170HP:0040170Abnormality of hair growth0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0040170HP:0040170Abnormality of hair growth0TP63 CL E G H862615979ORPHA:1896EEC syndrome140
HP:0040170HP:0040170Abnormality of hair growth0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0040170HP:0040170Abnormality of hair growth0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I171
HP:0040170HP:0011363Abnormality of hair growth rate1ADAM17 CL E G H6868195ORPHA:294023Neonatal inflammatory skin and bowel disease2
HP:0040170HP:0011363Abnormality of hair growth rate1BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0040170HP:0011363Abnormality of hair growth rate1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0040170HP:0011363Abnormality of hair growth rate1CDSN CL E G H10411802ORPHA:90368Hypotrichosis simplex of the scalp7
HP:0040170HP:0011363Abnormality of hair growth rate1CST6 CL E G H14742478OMIM:618535Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0040170HP:0011363Abnormality of hair growth rate1DSG4 CL E G H14740921307ORPHA:573Monilethrix63
HP:0040170HP:0011363Abnormality of hair growth rate1EDAR CL E G H109132895OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant86
HP:0040170HP:0011363Abnormality of hair growth rate1EDARADD CL E G H12817814341OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant56
HP:0040170HP:0011363Abnormality of hair growth rate1EGFR CL E G H19563236ORPHA:294023Neonatal inflammatory skin and bowel disease257
HP:0040170HP:0011363Abnormality of hair growth rate1GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia68
HP:0040170HP:0011363Abnormality of hair growth rate1GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0040170HP:0011363Abnormality of hair growth rate1GJB6 CL E G H108044288OMIM:129500Clouston syndrome56
HP:0040170HP:0011363Abnormality of hair growth rate1GTF2E2 CL E G H29614651OMIM:616943Trichothiodystrophy 6, nonphotosensitive2
HP:0040170HP:0011363Abnormality of hair growth rate1IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0040170HP:0011363Abnormality of hair growth rate1KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0040170HP:0011363Abnormality of hair growth rate1KRT25 CL E G H14718330839ORPHA:170Woolly hair2
HP:0040170HP:0011363Abnormality of hair growth rate1KRT71 CL E G H11280228927ORPHA:170Woolly hair1
HP:0040170HP:0011363Abnormality of hair growth rate1KRT74 CL E G H12139128929ORPHA:90368Hypotrichosis simplex of the scalp5
HP:0040170HP:0011363Abnormality of hair growth rate1KRT74 CL E G H12139128929ORPHA:170Woolly hair5
HP:0040170HP:0011363Abnormality of hair growth rate1KRT74 CL E G H12139128929OMIM:194300Woolly hair, autosomal dominant5
HP:0040170HP:0011363Abnormality of hair growth rate1KRT81 CL E G H38876458ORPHA:573Monilethrix3
HP:0040170HP:0011363Abnormality of hair growth rate1KRT83 CL E G H38896460ORPHA:573Monilethrix65
HP:0040170HP:0011363Abnormality of hair growth rate1KRT86 CL E G H38926463ORPHA:573Monilethrix10
HP:0040170HP:0011363Abnormality of hair growth rate1LIPH CL E G H20087918483ORPHA:170Woolly hair12
HP:0040170HP:0011363Abnormality of hair growth rate1LPAR6 CL E G H1016115520ORPHA:170Woolly hair8
HP:0040170HP:0011363Abnormality of hair growth rate1MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0040170HP:0011363Abnormality of hair growth rate1MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0040170HP:0011363Abnormality of hair growth rate1NR2F1 CL E G H70257975OMIM:615722Bosch-Boonstra-Schaaf optic atrophy syndrome37
HP:0040170HP:0011363Abnormality of hair growth rate1PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0040170HP:0011363Abnormality of hair growth rate1RNF113A CL E G H773712974OMIM:300953Trichothiodystrophy 5, nonphotosensitive3
HP:0040170HP:0011363Abnormality of hair growth rate1RPL21 CL E G H614410313OMIM:615885Hypotrichosis 121
HP:0040170HP:0040169Loose anagen hair1SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0040170HP:0011363Abnormality of hair growth rate1TP63 CL E G H862615979ORPHA:1896EEC syndrome140
HP:0040170HP:0011363Abnormality of hair growth rate1TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0040170HP:0011363Abnormality of hair growth rate1TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I171
HP:0040170HP:0002217Slow-growing hair2ADAM17 CL E G H6868195ORPHA:294023Neonatal inflammatory skin and bowel disease2
HP:0040170HP:0002217Slow-growing hair2BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0040170HP:0002217Slow-growing hair2BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0040170HP:0002217Slow-growing hair2CDSN CL E G H10411802ORPHA:90368Hypotrichosis simplex of the scalp7
HP:0040170HP:0002217Slow-growing hair2CST6 CL E G H14742478OMIM:618535Ectodermal dysplasia 15, Hypohidrotic/hair type.
HP:0040170HP:0002217Slow-growing hair2DSG4 CL E G H14740921307ORPHA:573MonilethrixHP:0040281 - Very frequent63
HP:0040170HP:0002217Slow-growing hair2EDAR CL E G H109132895OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.86
HP:0040170HP:0002217Slow-growing hair2EDARADD CL E G H12817814341OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.56
HP:0040170HP:0002217Slow-growing hair2EGFR CL E G H19563236ORPHA:294023Neonatal inflammatory skin and bowel disease257
HP:0040170HP:0002217Slow-growing hair2GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0040170HP:0002217Slow-growing hair2GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0040170HP:0002217Slow-growing hair2GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0040170HP:0002217Slow-growing hair2GTF2E2 CL E G H29614651OMIM:616943Trichothiodystrophy 6, nonphotosensitive2
HP:0040170HP:0002217Slow-growing hair2IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0040170HP:0002217Slow-growing hair2KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0040170HP:0002217Slow-growing hair2KRT25 CL E G H14718330839ORPHA:170Woolly hairHP:0040282 - Frequent2
HP:0040170HP:0002217Slow-growing hair2KRT71 CL E G H11280228927ORPHA:170Woolly hairHP:0040282 - Frequent1
HP:0040170HP:0002217Slow-growing hair2KRT74 CL E G H12139128929ORPHA:90368Hypotrichosis simplex of the scalp5
HP:0040170HP:0002217Slow-growing hair2KRT74 CL E G H12139128929ORPHA:170Woolly hairHP:0040282 - Frequent5
HP:0040170HP:0002217Slow-growing hair2KRT74 CL E G H12139128929OMIM:194300Woolly hair, autosomal dominant.5
HP:0040170HP:0002217Slow-growing hair2KRT81 CL E G H38876458ORPHA:573MonilethrixHP:0040281 - Very frequent3
HP:0040170HP:0002217Slow-growing hair2KRT83 CL E G H38896460ORPHA:573MonilethrixHP:0040281 - Very frequent65
HP:0040170HP:0002217Slow-growing hair2KRT86 CL E G H38926463ORPHA:573MonilethrixHP:0040281 - Very frequent10
HP:0040170HP:0002217Slow-growing hair2LIPH CL E G H20087918483ORPHA:170Woolly hairHP:0040282 - Frequent12
HP:0040170HP:0002217Slow-growing hair2LPAR6 CL E G H1016115520ORPHA:170Woolly hairHP:0040282 - Frequent8
HP:0040170HP:0002217Slow-growing hair2MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0040170HP:0002217Slow-growing hair2MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0040170HP:0002217Slow-growing hair2NR2F1 CL E G H70257975OMIM:615722Bosch-Boonstra-Schaaf optic atrophy syndrome37
HP:0040170HP:0002217Slow-growing hair2PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0040170HP:0002217Slow-growing hair2RNF113A CL E G H773712974OMIM:300953Trichothiodystrophy 5, nonphotosensitive.3
HP:0040170HP:0002217Slow-growing hair2RPL21 CL E G H614410313OMIM:615885Hypotrichosis 12.1
HP:0040170HP:0002217Slow-growing hair2TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040282 - Frequent140
HP:0040170HP:0002217Slow-growing hair2TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0040170HP:0002217Slow-growing hair2TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171
HP:0040170HP:0100038Slow-growing scalp hair3ADAM17 CL E G H6868195ORPHA:294023Neonatal inflammatory skin and bowel diseaseHP:0040282 - Frequent2
HP:0040170HP:0100038Slow-growing scalp hair3CDSN CL E G H10411802ORPHA:90368Hypotrichosis simplex of the scalp7
HP:0040170HP:0100038Slow-growing scalp hair3EGFR CL E G H19563236ORPHA:294023Neonatal inflammatory skin and bowel diseaseHP:0040282 - Frequent257
HP:0040170HP:0100038Slow-growing scalp hair3KRT74 CL E G H12139128929ORPHA:90368Hypotrichosis simplex of the scalp5


Genes (30) :ADAM17 BRAF CDSN CST6 DSG4 EDAR EDARADD EGFR GJA1 GJB6 GTF2E2 IFT122 KRAS KRT25 KRT71 KRT74 KRT81 KRT83 KRT86 LIPH LPAR6 MAP2K1 MAP2K2 NR2F1 PPP1CB RNF113A RPL21 SHOC2 TP63 TRPS1

Diseases (22) :ORPHA:294023 ORPHA:1340 OMIM:115150 ORPHA:90368 OMIM:618535 ORPHA:573 OMIM:129490 OMIM:164200 ORPHA:2710 OMIM:129500 OMIM:616943 OMIM:218330 ORPHA:170 OMIM:194300 OMIM:615722 OMIM:617506 OMIM:300953 OMIM:615885 OMIM:607721 ORPHA:1896 OMIM:129400 OMIM:190350
 

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