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
..expand
Abnormality of hair texture (HP:0010719)help
Term ID: 10719
Name: Abnormality of hair texture
Synonym: Abnormality of hair consistency; Abnormality of hair curl pattern; Abnormality of hair texture; Abnormality of hair volume
Definition: An abnormality of the texture of the hair.
Comments:
Reference: HP:0010719
Genes and Diseases:
 
       Child Nodes:
........expandCoarse hair (HP:0002208) help
........expandCurly hair (HP:0002212) help
........expandFine hair (HP:0002213) help
........expandWoolly hair (HP:0002224) help
................... HP:0040149 Woolly scalp hair
........expandBrittle hair (HP:0002299) help
................... HP:0004779 Brittle scalp hair
........expandDry hair (HP:0011359) help
........expandUncombable hair (HP:0030056) help

 Sister Nodes: 
..expandAbnormal eyebrow morphology (HP:0000534) help
..expandAbnormal eyelash morphology (HP:0000499) help
..expandAbnormal hair laboratory examination (HP:0003328) help
..expandAbnormal hair pattern (HP:0010720) help
..expandAbnormal hair quantity (HP:0011362) help
..expandAbnormality of hair growth (HP:0040170) help
..expandAbnormality of hair pigmentation (HP:0009887) 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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0010719HP:0010719Abnormality of hair texture0CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1761802602593
HP:0010719HP:0010719Abnormality of hair texture0CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1721802602593
HP:0010719HP:0010719Abnormality of hair texture0CLCN7 CL E G H1186667ORPHA15492025602727
HP:0010719HP:0010719Abnormality of hair texture0CLCN7 CL E G H1186667ORPHA13882025602727
HP:0010719HP:0010719Abnormality of hair texture0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0010719HP:0010719Abnormality of hair texture0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0010719HP:0010719Abnormality of hair texture0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1114324565612452
HP:0010719HP:0010719Abnormality of hair texture0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1104724565612452
HP:0010719HP:0010719Abnormality of hair texture0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM124517652300651
HP:0010719HP:0010719Abnormality of hair texture0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM123517652300651
HP:0010719HP:0010719Abnormality of hair texture0SNX10 CL E G H29887667ORPHA18914974614780
HP:0010719HP:0010719Abnormality of hair texture0SNX10 CL E G H29887667ORPHA15614974614780
HP:0010719HP:0010719Abnormality of hair texture0TCIRG1 CL E G H10312667ORPHA167411647604592
HP:0010719HP:0010719Abnormality of hair texture0TCIRG1 CL E G H10312667ORPHA154411647604592
HP:0010719HP:0010719Abnormality of hair texture0TNFSF11 CL E G H8600667ORPHA116611926602642
HP:0010719HP:0010719Abnormality of hair texture0TNFSF11 CL E G H8600667ORPHA112911926602642
HP:0010719HP:0010719Abnormality of hair texture0ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM116712877606480
HP:0010719HP:0010719Abnormality of hair texture0ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM114912877606480
HP:0010719HP:0002224Woolly hair1CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1761802602593
HP:0010719HP:0002212Curly hair1CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1761802602593
HP:0010719HP:0002213Fine hair1CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1761802602593
HP:0010719HP:0002224Woolly hair1CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1721802602593
HP:0010719HP:0002212Curly hair1CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1721802602593
HP:0010719HP:0002213Fine hair1CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1721802602593
HP:0010719HP:0030056Uncombable hair1CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1761802602593
HP:0010719HP:0002299Brittle hair1CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1761802602593
HP:0010719HP:0002208Coarse hair1CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1761802602593
HP:0010719HP:0011359Dry hair1CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1761802602593
HP:0010719HP:0002299Brittle hair1CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1721802602593
HP:0010719HP:0002208Coarse hair1CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1721802602593
HP:0010719HP:0011359Dry hair1CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1721802602593
HP:0010719HP:0030056Uncombable hair1CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1721802602593
HP:0010719HP:0002212Curly hair1CLCN7 CL E G H1186667ORPHA15492025602727
HP:0010719HP:0002213Fine hair1CLCN7 CL E G H1186667ORPHA15492025602727
HP:0010719HP:0002224Woolly hair1CLCN7 CL E G H1186667ORPHA15492025602727
HP:0010719HP:0002212Curly hair1CLCN7 CL E G H1186667ORPHA13882025602727
HP:0010719HP:0002213Fine hair1CLCN7 CL E G H1186667ORPHA13882025602727
HP:0010719HP:0002224Woolly hair1CLCN7 CL E G H1186667ORPHA13882025602727
HP:0010719HP:0002208Coarse hair1CLCN7 CL E G H1186667ORPHA15492025602727
HP:0010719HP:0011359Dry hair1CLCN7 CL E G H1186667ORPHA15492025602727
HP:0010719HP:0030056Uncombable hair1CLCN7 CL E G H1186667ORPHA15492025602727
HP:0010719HP:0002299Brittle hair1CLCN7 CL E G H1186667ORPHA15492025602727
HP:0010719HP:0002208Coarse hair1CLCN7 CL E G H1186667ORPHA13882025602727
HP:0010719HP:0011359Dry hair1CLCN7 CL E G H1186667ORPHA13882025602727
HP:0010719HP:0030056Uncombable hair1CLCN7 CL E G H1186667ORPHA13882025602727
HP:0010719HP:0002299Brittle hair1CLCN7 CL E G H1186667ORPHA13882025602727
HP:0010719HP:0002213Fine hair1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0010719HP:0002224Woolly hair1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0010719HP:0002212Curly hair1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0010719HP:0002213Fine hair1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0010719HP:0002224Woolly hair1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0010719HP:0002212Curly hair1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0010719HP:0030056Uncombable hair1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0010719HP:0002299Brittle hair1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0010719HP:0002208Coarse hair1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0010719HP:0011359Dry hair1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0010719HP:0030056Uncombable hair1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0010719HP:0002299Brittle hair1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0010719HP:0002208Coarse hair1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0010719HP:0011359Dry hair1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0010719HP:0002213Fine hair1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1114324565612452
HP:0010719HP:0002224Woolly hair1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1114324565612452
HP:0010719HP:0002212Curly hair1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1114324565612452
HP:0010719HP:0002213Fine hair1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1104724565612452
HP:0010719HP:0002224Woolly hair1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1104724565612452
HP:0010719HP:0002212Curly hair1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1104724565612452
HP:0010719HP:0011359Dry hair1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1114324565612452
HP:0010719HP:0030056Uncombable hair1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1114324565612452
HP:0010719HP:0002299Brittle hair1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1114324565612452
HP:0010719HP:0002208Coarse hair1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1114324565612452
HP:0010719HP:0011359Dry hair1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1104724565612452
HP:0010719HP:0030056Uncombable hair1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1104724565612452
HP:0010719HP:0002299Brittle hair1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1104724565612452
HP:0010719HP:0002208Coarse hair1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1104724565612452
HP:0010719HP:0002224Woolly hair1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM124517652300651
HP:0010719HP:0002212Curly hair1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM124517652300651
HP:0010719HP:0002213Fine hair1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM124517652300651
HP:0010719HP:0002224Woolly hair1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM123517652300651
HP:0010719HP:0002212Curly hair1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM123517652300651
HP:0010719HP:0002213Fine hair1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM123517652300651
HP:0010719HP:0030056Uncombable hair1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM124517652300651
HP:0010719HP:0002299Brittle hair1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM124517652300651
HP:0010719HP:0002208Coarse hair1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM124517652300651
HP:0010719HP:0011359Dry hair1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM124517652300651
HP:0010719HP:0030056Uncombable hair1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM123517652300651
HP:0010719HP:0002299Brittle hair1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM123517652300651
HP:0010719HP:0002208Coarse hair1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM123517652300651
HP:0010719HP:0011359Dry hair1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM123517652300651
HP:0010719HP:0002212Curly hair1SNX10 CL E G H29887667ORPHA18914974614780
HP:0010719HP:0002213Fine hair1SNX10 CL E G H29887667ORPHA18914974614780
HP:0010719HP:0002224Woolly hair1SNX10 CL E G H29887667ORPHA18914974614780
HP:0010719HP:0002212Curly hair1SNX10 CL E G H29887667ORPHA15614974614780
HP:0010719HP:0002213Fine hair1SNX10 CL E G H29887667ORPHA15614974614780
HP:0010719HP:0002224Woolly hair1SNX10 CL E G H29887667ORPHA15614974614780
HP:0010719HP:0002208Coarse hair1SNX10 CL E G H29887667ORPHA18914974614780
HP:0010719HP:0011359Dry hair1SNX10 CL E G H29887667ORPHA18914974614780
HP:0010719HP:0030056Uncombable hair1SNX10 CL E G H29887667ORPHA18914974614780
HP:0010719HP:0002299Brittle hair1SNX10 CL E G H29887667ORPHA18914974614780
HP:0010719HP:0002208Coarse hair1SNX10 CL E G H29887667ORPHA15614974614780
HP:0010719HP:0011359Dry hair1SNX10 CL E G H29887667ORPHA15614974614780
HP:0010719HP:0030056Uncombable hair1SNX10 CL E G H29887667ORPHA15614974614780
HP:0010719HP:0002299Brittle hair1SNX10 CL E G H29887667ORPHA15614974614780
HP:0010719HP:0002212Curly hair1TCIRG1 CL E G H10312667ORPHA167411647604592
HP:0010719HP:0002213Fine hair1TCIRG1 CL E G H10312667ORPHA167411647604592
HP:0010719HP:0002224Woolly hair1TCIRG1 CL E G H10312667ORPHA167411647604592
HP:0010719HP:0002212Curly hair1TCIRG1 CL E G H10312667ORPHA154411647604592
HP:0010719HP:0002213Fine hair1TCIRG1 CL E G H10312667ORPHA154411647604592
HP:0010719HP:0002224Woolly hair1TCIRG1 CL E G H10312667ORPHA154411647604592
HP:0010719HP:0002299Brittle hair1TCIRG1 CL E G H10312667ORPHA167411647604592
HP:0010719HP:0002208Coarse hair1TCIRG1 CL E G H10312667ORPHA167411647604592
HP:0010719HP:0011359Dry hair1TCIRG1 CL E G H10312667ORPHA167411647604592
HP:0010719HP:0030056Uncombable hair1TCIRG1 CL E G H10312667ORPHA167411647604592
HP:0010719HP:0002208Coarse hair1TCIRG1 CL E G H10312667ORPHA154411647604592
HP:0010719HP:0011359Dry hair1TCIRG1 CL E G H10312667ORPHA154411647604592
HP:0010719HP:0030056Uncombable hair1TCIRG1 CL E G H10312667ORPHA154411647604592
HP:0010719HP:0002299Brittle hair1TCIRG1 CL E G H10312667ORPHA154411647604592
HP:0010719HP:0002212Curly hair1TNFSF11 CL E G H8600667ORPHA116611926602642
HP:0010719HP:0002213Fine hair1TNFSF11 CL E G H8600667ORPHA116611926602642
HP:0010719HP:0002224Woolly hair1TNFSF11 CL E G H8600667ORPHA116611926602642
HP:0010719HP:0002212Curly hair1TNFSF11 CL E G H8600667ORPHA112911926602642
HP:0010719HP:0002213Fine hair1TNFSF11 CL E G H8600667ORPHA112911926602642
HP:0010719HP:0002224Woolly hair1TNFSF11 CL E G H8600667ORPHA112911926602642
HP:0010719HP:0002299Brittle hair1TNFSF11 CL E G H8600667ORPHA116611926602642
HP:0010719HP:0002208Coarse hair1TNFSF11 CL E G H8600667ORPHA116611926602642
HP:0010719HP:0011359Dry hair1TNFSF11 CL E G H8600667ORPHA116611926602642
HP:0010719HP:0030056Uncombable hair1TNFSF11 CL E G H8600667ORPHA116611926602642
HP:0010719HP:0002299Brittle hair1TNFSF11 CL E G H8600667ORPHA112911926602642
HP:0010719HP:0002208Coarse hair1TNFSF11 CL E G H8600667ORPHA112911926602642
HP:0010719HP:0011359Dry hair1TNFSF11 CL E G H8600667ORPHA112911926602642
HP:0010719HP:0030056Uncombable hair1TNFSF11 CL E G H8600667ORPHA112911926602642
HP:0010719HP:0002213Fine hair1ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM116712877606480
HP:0010719HP:0002224Woolly hair1ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM116712877606480
HP:0010719HP:0002212Curly hair1ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM116712877606480
HP:0010719HP:0002213Fine hair1ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM114912877606480
HP:0010719HP:0002224Woolly hair1ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM114912877606480
HP:0010719HP:0002212Curly hair1ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM114912877606480
HP:0010719HP:0011359Dry hair1ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM116712877606480
HP:0010719HP:0030056Uncombable hair1ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM116712877606480
HP:0010719HP:0002299Brittle hair1ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM116712877606480
HP:0010719HP:0002208Coarse hair1ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM116712877606480
HP:0010719HP:0030056Uncombable hair1ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM114912877606480
HP:0010719HP:0002299Brittle hair1ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM114912877606480
HP:0010719HP:0002208Coarse hair1ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM114912877606480
HP:0010719HP:0011359Dry hair1ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM114912877606480
HP:0010719HP:0004779Brittle scalp hair2CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1761802602593
HP:0010719HP:0004779Brittle scalp hair2CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1721802602593
HP:0010719HP:0040149Woolly scalp hair2CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1761802602593
HP:0010719HP:0040149Woolly scalp hair2CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1721802602593
HP:0010719HP:0004779Brittle scalp hair2CLCN7 CL E G H1186667ORPHA15492025602727
HP:0010719HP:0004779Brittle scalp hair2CLCN7 CL E G H1186667ORPHA13882025602727
HP:0010719HP:0040149Woolly scalp hair2CLCN7 CL E G H1186667ORPHA15492025602727
HP:0010719HP:0040149Woolly scalp hair2CLCN7 CL E G H1186667ORPHA13882025602727
HP:0010719HP:0004779Brittle scalp hair2ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0010719HP:0004779Brittle scalp hair2ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0010719HP:0040149Woolly scalp hair2ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0010719HP:0040149Woolly scalp hair2ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0010719HP:0004779Brittle scalp hair2KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1114324565612452
HP:0010719HP:0004779Brittle scalp hair2KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1104724565612452
HP:0010719HP:0040149Woolly scalp hair2KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1114324565612452
HP:0010719HP:0040149Woolly scalp hair2KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1104724565612452
HP:0010719HP:0004779Brittle scalp hair2PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM124517652300651
HP:0010719HP:0004779Brittle scalp hair2PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM123517652300651
HP:0010719HP:0040149Woolly scalp hair2PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM124517652300651
HP:0010719HP:0040149Woolly scalp hair2PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM123517652300651
HP:0010719HP:0004779Brittle scalp hair2SNX10 CL E G H29887667ORPHA18914974614780
HP:0010719HP:0004779Brittle scalp hair2SNX10 CL E G H29887667ORPHA15614974614780
HP:0010719HP:0040149Woolly scalp hair2SNX10 CL E G H29887667ORPHA18914974614780
HP:0010719HP:0040149Woolly scalp hair2SNX10 CL E G H29887667ORPHA15614974614780
HP:0010719HP:0004779Brittle scalp hair2TCIRG1 CL E G H10312667ORPHA167411647604592
HP:0010719HP:0004779Brittle scalp hair2TCIRG1 CL E G H10312667ORPHA154411647604592
HP:0010719HP:0040149Woolly scalp hair2TCIRG1 CL E G H10312667ORPHA167411647604592
HP:0010719HP:0040149Woolly scalp hair2TCIRG1 CL E G H10312667ORPHA154411647604592
HP:0010719HP:0004779Brittle scalp hair2TNFSF11 CL E G H8600667ORPHA116611926602642
HP:0010719HP:0004779Brittle scalp hair2TNFSF11 CL E G H8600667ORPHA112911926602642
HP:0010719HP:0040149Woolly scalp hair2TNFSF11 CL E G H8600667ORPHA116611926602642
HP:0010719HP:0040149Woolly scalp hair2TNFSF11 CL E G H8600667ORPHA112911926602642
HP:0010719HP:0004779Brittle scalp hair2ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM116712877606480
HP:0010719HP:0004779Brittle scalp hair2ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM114912877606480
HP:0010719HP:0040149Woolly scalp hair2ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM116712877606480
HP:0010719HP:0040149Woolly scalp hair2ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM114912877606480
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010719HP:0010719Abnormality of hair texture0AHCY CL E G H19188618ORPHA0126343180960
HP:0010719HP:0010719Abnormality of hair texture0AHCY CL E G H19188618ORPHA0113343180960
HP:0010719HP:0010719Abnormality of hair texture0COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA020832201120180
HP:0010719HP:0010719Abnormality of hair texture0COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA019352201120180
HP:0010719HP:0010719Abnormality of hair texture0COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA022462209120215
HP:0010719HP:0010719Abnormality of hair texture0COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA020772209120215
HP:0010719HP:0010719Abnormality of hair texture0EBP CL E G H1068235173ORPHA02863133300205
HP:0010719HP:0010719Abnormality of hair texture0EBP CL E G H1068235173ORPHA02653133300205
HP:0010719HP:0010719Abnormality of hair texture0PHGDH CL E G H2622779351ORPHA04078923606879
HP:0010719HP:0010719Abnormality of hair texture0PHGDH CL E G H2622779351ORPHA02818923606879
HP:0010719HP:0002224Woolly hair1AHCY CL E G H19188618ORPHA0126343180960
HP:0010719HP:0002212Curly hair1AHCY CL E G H19188618ORPHA0126343180960
HP:0010719HP:0002213Fine hair1AHCY CL E G H19188618ORPHA0126343180960
HP:0010719HP:0002224Woolly hair1AHCY CL E G H19188618ORPHA0113343180960
HP:0010719HP:0002212Curly hair1AHCY CL E G H19188618ORPHA0113343180960
HP:0010719HP:0002213Fine hair1AHCY CL E G H19188618ORPHA0113343180960
HP:0010719HP:0002299Brittle hair1AHCY CL E G H19188618ORPHA0126343180960
HP:0010719HP:0002208Coarse hair1AHCY CL E G H19188618ORPHA0126343180960
HP:0010719HP:0011359Dry hair1AHCY CL E G H19188618ORPHA0126343180960
HP:0010719HP:0030056Uncombable hair1AHCY CL E G H19188618ORPHA0126343180960
HP:0010719HP:0002299Brittle hair1AHCY CL E G H19188618ORPHA0113343180960
HP:0010719HP:0002208Coarse hair1AHCY CL E G H19188618ORPHA0113343180960
HP:0010719HP:0011359Dry hair1AHCY CL E G H19188618ORPHA0113343180960
HP:0010719HP:0030056Uncombable hair1AHCY CL E G H19188618ORPHA0113343180960
HP:0010719HP:0002212Curly hair1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA020832201120180
HP:0010719HP:0002213Fine hair1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA020832201120180
HP:0010719HP:0002224Woolly hair1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA020832201120180
HP:0010719HP:0002212Curly hair1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA019352201120180
HP:0010719HP:0002213Fine hair1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA019352201120180
HP:0010719HP:0002224Woolly hair1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA019352201120180
HP:0010719HP:0011359Dry hair1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA020832201120180
HP:0010719HP:0030056Uncombable hair1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA020832201120180
HP:0010719HP:0002299Brittle hair1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA020832201120180
HP:0010719HP:0002208Coarse hair1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA020832201120180
HP:0010719HP:0011359Dry hair1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA019352201120180
HP:0010719HP:0030056Uncombable hair1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA019352201120180
HP:0010719HP:0002299Brittle hair1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA019352201120180
HP:0010719HP:0002208Coarse hair1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA019352201120180
HP:0010719HP:0002212Curly hair1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA022462209120215
HP:0010719HP:0002213Fine hair1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA022462209120215
HP:0010719HP:0002224Woolly hair1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA022462209120215
HP:0010719HP:0002212Curly hair1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA020772209120215
HP:0010719HP:0002213Fine hair1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA020772209120215
HP:0010719HP:0002224Woolly hair1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA020772209120215
HP:0010719HP:0002208Coarse hair1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA022462209120215
HP:0010719HP:0011359Dry hair1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA022462209120215
HP:0010719HP:0030056Uncombable hair1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA022462209120215
HP:0010719HP:0002299Brittle hair1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA022462209120215
HP:0010719HP:0011359Dry hair1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA020772209120215
HP:0010719HP:0030056Uncombable hair1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA020772209120215
HP:0010719HP:0002299Brittle hair1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA020772209120215
HP:0010719HP:0002208Coarse hair1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA020772209120215
HP:0010719HP:0002212Curly hair1EBP CL E G H1068235173ORPHA02863133300205
HP:0010719HP:0002213Fine hair1EBP CL E G H1068235173ORPHA02863133300205
HP:0010719HP:0002224Woolly hair1EBP CL E G H1068235173ORPHA02863133300205
HP:0010719HP:0002212Curly hair1EBP CL E G H1068235173ORPHA02653133300205
HP:0010719HP:0002213Fine hair1EBP CL E G H1068235173ORPHA02653133300205
HP:0010719HP:0002224Woolly hair1EBP CL E G H1068235173ORPHA02653133300205
HP:0010719HP:0002299Brittle hair1EBP CL E G H1068235173ORPHA02863133300205
HP:0010719HP:0002208Coarse hair1EBP CL E G H1068235173ORPHA02863133300205
HP:0010719HP:0011359Dry hair1EBP CL E G H1068235173ORPHA02863133300205
HP:0010719HP:0030056Uncombable hair1EBP CL E G H1068235173ORPHA02863133300205
HP:0010719HP:0002299Brittle hair1EBP CL E G H1068235173ORPHA02653133300205
HP:0010719HP:0002208Coarse hair1EBP CL E G H1068235173ORPHA02653133300205
HP:0010719HP:0011359Dry hair1EBP CL E G H1068235173ORPHA02653133300205
HP:0010719HP:0030056Uncombable hair1EBP CL E G H1068235173ORPHA02653133300205
HP:0010719HP:0002224Woolly hair1PHGDH CL E G H2622779351ORPHA04078923606879
HP:0010719HP:0002212Curly hair1PHGDH CL E G H2622779351ORPHA04078923606879
HP:0010719HP:0002213Fine hair1PHGDH CL E G H2622779351ORPHA04078923606879
HP:0010719HP:0002212Curly hair1PHGDH CL E G H2622779351ORPHA02818923606879
HP:0010719HP:0002213Fine hair1PHGDH CL E G H2622779351ORPHA02818923606879
HP:0010719HP:0002224Woolly hair1PHGDH CL E G H2622779351ORPHA02818923606879
HP:0010719HP:0002299Brittle hair1PHGDH CL E G H2622779351ORPHA04078923606879
HP:0010719HP:0002208Coarse hair1PHGDH CL E G H2622779351ORPHA04078923606879
HP:0010719HP:0011359Dry hair1PHGDH CL E G H2622779351ORPHA04078923606879
HP:0010719HP:0030056Uncombable hair1PHGDH CL E G H2622779351ORPHA04078923606879
HP:0010719HP:0002299Brittle hair1PHGDH CL E G H2622779351ORPHA02818923606879
HP:0010719HP:0002208Coarse hair1PHGDH CL E G H2622779351ORPHA02818923606879
HP:0010719HP:0011359Dry hair1PHGDH CL E G H2622779351ORPHA02818923606879
HP:0010719HP:0030056Uncombable hair1PHGDH CL E G H2622779351ORPHA02818923606879
HP:0010719HP:0004779Brittle scalp hair2AHCY CL E G H19188618ORPHA0126343180960
HP:0010719HP:0004779Brittle scalp hair2AHCY CL E G H19188618ORPHA0113343180960
HP:0010719HP:0040149Woolly scalp hair2AHCY CL E G H19188618ORPHA0126343180960
HP:0010719HP:0040149Woolly scalp hair2AHCY CL E G H19188618ORPHA0113343180960
HP:0010719HP:0004779Brittle scalp hair2COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA020832201120180
HP:0010719HP:0004779Brittle scalp hair2COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA019352201120180
HP:0010719HP:0040149Woolly scalp hair2COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA020832201120180
HP:0010719HP:0040149Woolly scalp hair2COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA019352201120180
HP:0010719HP:0004779Brittle scalp hair2COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA022462209120215
HP:0010719HP:0004779Brittle scalp hair2COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA020772209120215
HP:0010719HP:0040149Woolly scalp hair2COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA022462209120215
HP:0010719HP:0040149Woolly scalp hair2COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA020772209120215
HP:0010719HP:0004779Brittle scalp hair2EBP CL E G H1068235173ORPHA02863133300205
HP:0010719HP:0004779Brittle scalp hair2EBP CL E G H1068235173ORPHA02653133300205
HP:0010719HP:0040149Woolly scalp hair2EBP CL E G H1068235173ORPHA02863133300205
HP:0010719HP:0040149Woolly scalp hair2EBP CL E G H1068235173ORPHA02653133300205
HP:0010719HP:0004779Brittle scalp hair2PHGDH CL E G H2622779351ORPHA04078923606879
HP:0010719HP:0004779Brittle scalp hair2PHGDH CL E G H2622779351ORPHA02818923606879
HP:0010719HP:0040149Woolly scalp hair2PHGDH CL E G H2622779351ORPHA04078923606879
HP:0010719HP:0040149Woolly scalp hair2PHGDH CL E G H2622779351ORPHA02818923606879


Genes (151) :A2ML1 AHCY ALX4 ASL ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A BCS1L BRAF BRF1 CBL CBS CCDC47 CDH3 CDKL5 CDSN CLCN7 COL3A1 COL4A3BP COL5A1 DCAF17 DSC2 DSG4 DSP EBP EDA EDAR EDARADD EED EFNB1 EPS8L3 ERCC2 ERCC3 ERCC6 ERCC8 EZH2 FLNA FOXG1 GABBR2 GAN GJA1 GJB2 GJB6 GNS GTF2E2 GTF2H5 HGSNAT HPD HR HRAS IFT122 IFT43 IKBKG INSR ITGA3 JUP KANK2 KANSL1 KAT6B KCTD1 KRAS KRT17 KRT25 KRT71 KRT74 KRT81 KRT83 KRT85 KRT86 LIG4 LIPH LPAR6 LZTR1 MAP2K1 MAP2K2 MECP2 MED12 MPLKIP MSX1 MTOR NAA10 NAGLU NBAS NECTIN1 NECTIN4 NOTCH2 NOTCH3 NRAS NSD1 NSUN2 NTNG1 OCRL OFD1 PADI3 PCNT PHGDH PIGL PKP1 PLOD3 PORCN PPP1R15B PQBP1 PTPN11 PYCR1 RAF1 RASA2 RECQL4 RIPK4 RIT1 RLIM RMRP RNF113A RPL21 RPS23 RPS6KA3 RRAS SATB2 SEC23A SGSH SIN3A SKIV2L SLC25A24 SLC7A7 SMAD4 SMARCAL1 SNX10 SON SOS1 SOS2 SPINK5 ST14 STXBP1 SUMF1 SUOX SUZ12 TCHH TCIRG1 TGM3 TINF2 TMCO1 TNFSF11 TP63 TRNT1 TRPS1 TTC37 TWIST2 VPS33A WDR35 WNT10A ZMPSTE24

Diseases (163) :88618 270300 667 286 35173 601675 610443 79351 305600 608612 648 228390 207900 357074 219200 198 565 304150 123 124000 262000 115150 1340 613707 616202 613563 236200 618268 1573 3095 2500 616351 241080 610476 573 607903 65282 615821 605676 607655 305100 129490 248 3447 1520 444 616390 133540 216400 277590 309350 643 256850 104100 2710 164200 477 189 129500 252940 616943 616395 252930 2118 3071 218040 218330 614099 308300 769 614748 34217 601214 85201 181270 615278 167210 170 616760 615896 614929 194300 158000 602032 235 604379 278150 616564 615279 305450 234050 2228 189500 616638 276432 300855 252920 614800 225060 613573 955 130720 613224 534 2750 1410 191480 2637 3474 280000 158668 612394 616817 93947 614438 611554 221016 1401 214350 615355 300978 250250 300953 615885 617412 303600 251019 50814 607812 252900 613406 614602 2095 2963 612289 222700 139210 242900 500150 610733 616559 634 256500 602400 585 272300 617252 617251 613990 268130 1394 978 1071 1896 129400 616084 190350 222470 920 617303 614091 257980 616099
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.