Human Phenotype Ontology 
Grandparent Node:
expandAbnormal hair morphology (HP:0001595)help
Parent Node:
expandAbnormal hairshaft morphology (HP:0003328)help
..Starting node
..expandTrichorrhexis nodosa (HP:0009886)help
Term ID: 9886
Name: Trichorrhexis nodosa
Synonym:
Definition: Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.
Comments:
Reference: HP:0009886
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHair shafts flattened at irregular intervals and twisted through 180 degrees about their axes (HP:0003329) help
..expandPili canaliculi (HP:0002235) help
..expandPili torti (HP:0003777) help
..expandTiger tail banding (HP:0045055) 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:0009886HP:0009886Trichorrhexis nodosa0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0009886HP:0009886Trichorrhexis nodosa0ASL CL E G H435746OMIM:207900Argininosuccinic aciduria.81
HP:0009886HP:0009886Trichorrhexis nodosa0ASL CL E G H435746ORPHA:23Argininosuccinic aciduriaHP:0040283 - Occasional81
HP:0009886HP:0009886Trichorrhexis nodosa0CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0009886HP:0009886Trichorrhexis nodosa0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive.106
HP:0009886HP:0009886Trichorrhexis nodosa0GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0009886HP:0009886Trichorrhexis nodosa0GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0009886HP:0009886Trichorrhexis nodosa0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0009886HP:0009886Trichorrhexis nodosa0KRT25 CL E G H14718330839OMIM:616760Woolly hair, autosomal recessive 32
HP:0009886HP:0009886Trichorrhexis nodosa0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive.9
HP:0009886HP:0009886Trichorrhexis nodosa0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040282 - Frequent
HP:0009886HP:0009886Trichorrhexis nodosa0SKIC2 CL E G H649910898OMIM:614602Trichohepatoenteric syndrome 2.
HP:0009886HP:0009886Trichorrhexis nodosa0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040282 - Frequent
HP:0009886HP:0009886Trichorrhexis nodosa0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0009886HP:0009886Trichorrhexis nodosa0SPINK5 CL E G H1100515464ORPHA:634Netherton syndromeHP:0040281 - Very frequent100


Genes (12) :AARS1 ASL CLCN6 ERCC2 GJA1 GTF2H5 HEPHL1 KRT25 MPLKIP SKIC2 SKIC3 SPINK5

Diseases (14) :OMIM:619691 OMIM:207900 ORPHA:23 OMIM:619173 OMIM:601675 ORPHA:1010 OMIM:616395 OMIM:261990 OMIM:616760 OMIM:234050 ORPHA:84064 OMIM:614602 OMIM:222470 ORPHA:634
 

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