Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of skin adnexa morphology (HP:0011138)help
Parent Node:
expand
Abnormal hair morphology (HP:0001595)help
..Starting node
..expand
Abnormal hairshaft morphology (HP:0003328)help
Term ID: 3328
Name: Abnormal hairshaft morphology
Synonym:
Definition: An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin.
Comments:
Reference: HP:0003328
Genes and Diseases:
 
       Child Nodes:
........expandPili canaliculi (HP:0002235) help
........expandHair shafts flattened at irregular intervals and twisted through 180 degrees about their axes (HP:0003329) help
........expandPili torti (HP:0003777) help
........expandTrichorrhexis nodosa (HP:0009886) help
........expandTiger tail banding (HP:0045055) 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
..expandAbnormality of hair growth (HP:0040170) 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:0003328HP:0003328Abnormal hairshaft morphology0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0003328HP:0003328Abnormal hairshaft morphology0ASL CL E G H435746OMIM:207900Argininosuccinic aciduria81
HP:0003328HP:0003328Abnormal hairshaft morphology0ASL CL E G H435746ORPHA:23Argininosuccinic aciduria81
HP:0003328HP:0003328Abnormal hairshaft morphology0BCS1L CL E G H6171020OMIM:262000Bjornstad syndrome72
HP:0003328HP:0003328Abnormal hairshaft morphology0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0003328HP:0003328Abnormal hairshaft morphology0CDH3 CL E G H10011762ORPHA:1573Hypotrichosis with juvenile macular degeneration87
HP:0003328HP:0003328Abnormal hairshaft morphology0CDH3 CL E G H10011762OMIM:601553Hypotrichosis, congenital, with juvenile macular dystrophy87
HP:0003328HP:0003328Abnormal hairshaft morphology0CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0003328HP:0003328Abnormal hairshaft morphology0DSG4 CL E G H14740921307OMIM:607903Hypotrichosis 663
HP:0003328HP:0003328Abnormal hairshaft morphology0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0003328HP:0003328Abnormal hairshaft morphology0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0003328HP:0003328Abnormal hairshaft morphology0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0003328HP:0003328Abnormal hairshaft morphology0ERCC3 CL E G H20713435OMIM:616390Trichothiodystrophy 2, photosensitive54
HP:0003328HP:0003328Abnormal hairshaft morphology0GAN CL E G H81394137ORPHA:643Giant axonal neuropathy121
HP:0003328HP:0003328Abnormal hairshaft morphology0GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0003328HP:0003328Abnormal hairshaft morphology0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0003328HP:0003328Abnormal hairshaft morphology0GTF2E2 CL E G H29614651OMIM:616943Trichothiodystrophy 6, nonphotosensitive2
HP:0003328HP:0003328Abnormal hairshaft morphology0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0003328HP:0003328Abnormal hairshaft morphology0GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0003328HP:0003328Abnormal hairshaft morphology0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0003328HP:0003328Abnormal hairshaft morphology0KRT25 CL E G H14718330839OMIM:616760Woolly hair, autosomal recessive 32
HP:0003328HP:0003328Abnormal hairshaft morphology0KRT85 CL E G H38916462OMIM:602032Ectodermal dysplasia 4, Hair/nail type2
HP:0003328HP:0003328Abnormal hairshaft morphology0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0003328HP:0003328Abnormal hairshaft morphology0MARS1 CL E G H41416898OMIM:619692TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0003328HP:0003328Abnormal hairshaft morphology0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0003328HP:0003328Abnormal hairshaft morphology0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive9
HP:0003328HP:0003328Abnormal hairshaft morphology0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0003328HP:0003328Abnormal hairshaft morphology0NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 17
HP:0003328HP:0003328Abnormal hairshaft morphology0PADI3 CL E G H5170218337OMIM:191480UNCOMBABLE HAIR SYNDROME 1; UHS13
HP:0003328HP:0003328Abnormal hairshaft morphology0PEX1 CL E G H51898850ORPHA:3220Deafness-enamel hypoplasia-nail defects syndrome169
HP:0003328HP:0003328Abnormal hairshaft morphology0PEX6 CL E G H51908859ORPHA:3220Deafness-enamel hypoplasia-nail defects syndrome98
HP:0003328HP:0003328Abnormal hairshaft morphology0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0003328HP:0003328Abnormal hairshaft morphology0RNF113A CL E G H773712974OMIM:300953Trichothiodystrophy 5, nonphotosensitive3
HP:0003328HP:0003328Abnormal hairshaft morphology0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrhea
HP:0003328HP:0003328Abnormal hairshaft morphology0SKIC2 CL E G H649910898OMIM:614602Trichohepatoenteric syndrome 2
HP:0003328HP:0003328Abnormal hairshaft morphology0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrhea
HP:0003328HP:0003328Abnormal hairshaft morphology0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0003328HP:0003328Abnormal hairshaft morphology0SPINK5 CL E G H1100515464ORPHA:634Netherton syndrome100
HP:0003328HP:0003328Abnormal hairshaft morphology0ST14 CL E G H676811344OMIM:602400Ichthyosis, congenital, autosomal recessive 114
HP:0003328HP:0003328Abnormal hairshaft morphology0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0003328HP:0003328Abnormal hairshaft morphology0TARS1 CL E G H689711572OMIM:618546Trichothiodystrophy 7, nonphotosensitive
HP:0003328HP:0003328Abnormal hairshaft morphology0TCHH CL E G H706211791OMIM:617252Uncombable hair syndrome 31
HP:0003328HP:0003328Abnormal hairshaft morphology0TGM3 CL E G H705311779OMIM:617251Uncombable hair syndrome 21
HP:0003328HP:0003328Abnormal hairshaft morphology0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0003328HP:0003328Abnormal hairshaft morphology0WRN CL E G H748612791ORPHA:902Werner syndrome310
HP:0003328HP:0034425Reduced hair sulfur content1 CL E G H
HP:0003328HP:0032470Monilethrix1 CL E G H
HP:0003328HP:0009886Trichorrhexis nodosa1AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0003328HP:0009886Trichorrhexis nodosa1ASL CL E G H435746ORPHA:23Argininosuccinic aciduriaHP:0040283 - Occasional81
HP:0003328HP:0009886Trichorrhexis nodosa1ASL CL E G H435746OMIM:207900Argininosuccinic aciduria.81
HP:0003328HP:0003329Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes1BCS1L CL E G H6171020OMIM:262000Bjornstad syndrome.72
HP:0003328HP:0003777Pili torti1BCS1L CL E G H6171020OMIM:262000Bjornstad syndrome.72
HP:0003328HP:0045055Tiger tail banding1CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0003328HP:0003777Pili torti1CDH3 CL E G H10011762ORPHA:1573Hypotrichosis with juvenile macular degenerationHP:0040282 - Frequent87
HP:0003328HP:0003777Pili torti1CDH3 CL E G H10011762OMIM:601553Hypotrichosis, congenital, with juvenile macular dystrophy87
HP:0003328HP:0009886Trichorrhexis nodosa1CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0003328HP:0003777Pili torti1DSG4 CL E G H14740921307OMIM:607903Hypotrichosis 6HP:0040283 - Occasional63
HP:0003328HP:0045055Tiger tail banding1ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0003328HP:0009886Trichorrhexis nodosa1ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive.106
HP:0003328HP:0003777Pili torti1ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0003328HP:0034354Trichoschisis1ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0003328HP:0045055Tiger tail banding1ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive.106
HP:0003328HP:0045055Tiger tail banding1ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0003328HP:0045055Tiger tail banding1ERCC3 CL E G H20713435OMIM:616390Trichothiodystrophy 2, photosensitive.54
HP:0003328HP:0002235Pili canaliculi1GAN CL E G H81394137ORPHA:643Giant axonal neuropathyHP:0040281 - Very frequent121
HP:0003328HP:0009886Trichorrhexis nodosa1GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0003328HP:0045055Tiger tail banding1GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0003328HP:0045055Tiger tail banding1GTF2E2 CL E G H29614651OMIM:616943Trichothiodystrophy 6, nonphotosensitive2
HP:0003328HP:0045055Tiger tail banding1GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0003328HP:0045055Tiger tail banding1GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive.3
HP:0003328HP:0009886Trichorrhexis nodosa1GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0003328HP:0009886Trichorrhexis nodosa1HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0003328HP:0003777Pili torti1HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0003328HP:0009886Trichorrhexis nodosa1KRT25 CL E G H14718330839OMIM:616760Woolly hair, autosomal recessive 32
HP:0003328HP:0003777Pili torti1KRT85 CL E G H38916462OMIM:602032Ectodermal dysplasia 4, Hair/nail type.2
HP:0003328HP:0003777Pili torti1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0003328HP:0045055Tiger tail banding1MARS1 CL E G H41416898OMIM:619692TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0003328HP:0045055Tiger tail banding1MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0003328HP:0009886Trichorrhexis nodosa1MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive.9
HP:0003328HP:0003777Pili torti1NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040282 - Frequent4
HP:0003328HP:0003777Pili torti1NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 1.7
HP:0003328HP:0002235Pili canaliculi1PADI3 CL E G H5170218337OMIM:191480UNCOMBABLE HAIR SYNDROME 1; UHS13
HP:0003328HP:0003777Pili torti1PEX1 CL E G H51898850ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040281 - Very frequent169
HP:0003328HP:0003777Pili torti1PEX6 CL E G H51908859ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040281 - Very frequent98
HP:0003328HP:0045055Tiger tail banding1RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0003328HP:0045055Tiger tail banding1RNF113A CL E G H773712974OMIM:300953Trichothiodystrophy 5, nonphotosensitive.3
HP:0003328HP:0009886Trichorrhexis nodosa1SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040282 - Frequent
HP:0003328HP:0009886Trichorrhexis nodosa1SKIC2 CL E G H649910898OMIM:614602Trichohepatoenteric syndrome 2.
HP:0003328HP:0009886Trichorrhexis nodosa1SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040282 - Frequent
HP:0003328HP:0009886Trichorrhexis nodosa1SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0003328HP:0009886Trichorrhexis nodosa1SPINK5 CL E G H1100515464ORPHA:634Netherton syndromeHP:0040281 - Very frequent100
HP:0003328HP:0003777Pili torti1ST14 CL E G H676811344OMIM:602400Ichthyosis, congenital, autosomal recessive 11.4
HP:0003328HP:0045055Tiger tail banding1TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0003328HP:0045055Tiger tail banding1TARS1 CL E G H689711572OMIM:618546Trichothiodystrophy 7, nonphotosensitive
HP:0003328HP:0002235Pili canaliculi1TCHH CL E G H706211791OMIM:617252Uncombable hair syndrome 3.1
HP:0003328HP:0002235Pili canaliculi1TGM3 CL E G H705311779OMIM:617251Uncombable hair syndrome 2.1
HP:0003328HP:0002235Pili canaliculi1TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome.140
HP:0003328HP:0003777Pili torti1WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040281 - Very frequent310


Genes (34) :AARS1 ASL BCS1L CARS1 CDH3 CLCN6 DSG4 ERCC2 ERCC3 GAN GJA1 GTF2E2 GTF2H5 HEPHL1 KRT25 KRT85 LMNA MARS1 MPLKIP NECTIN1 NECTIN4 PADI3 PEX1 PEX6 RNF113A SKIC2 SKIC3 SPINK5 ST14 TARS1 TCHH TGM3 TP63 WRN

Diseases (36) :OMIM:619691 OMIM:207900 ORPHA:23 OMIM:262000 ORPHA:33364 ORPHA:1573 OMIM:601553 OMIM:619173 OMIM:607903 OMIM:601675 OMIM:616390 ORPHA:643 ORPHA:1010 OMIM:616943 OMIM:616395 OMIM:261990 OMIM:616760 OMIM:602032 ORPHA:79474 OMIM:619692 OMIM:234050 ORPHA:3253 OMIM:613573 OMIM:191480 ORPHA:3220 OMIM:300953 ORPHA:84064 OMIM:614602 OMIM:222470 ORPHA:634 OMIM:602400 OMIM:618546 OMIM:617252 OMIM:617251 OMIM:129400 ORPHA:902
 

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