Human Phenotype Ontology 
Grandparent Node:
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Abnormal hair morphology (HP:0001595)help
Parent Node:
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Abnormal hair laboratory examination (HP:0003328)help
..Starting node
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Trichorrhexis 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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0009886HP:0009886Trichorrhexis nodosa0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1469746608310
HP:0009886HP:0009886Trichorrhexis nodosa0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1423746608310
HP:0009886HP:0009886Trichorrhexis nodosa0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0009886HP:0009886Trichorrhexis nodosa0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0009886HP:0009886Trichorrhexis nodosa0KRT25 CL E G H147183616760Autosomal recessive woolly hair 3616760C4225214OMIM12630839616646
HP:0009886HP:0009886Trichorrhexis nodosa0MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM19216002609188
HP:0009886HP:0009886Trichorrhexis nodosa0MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM16316002609188
HP:0009886HP:0009886Trichorrhexis nodosa0SKIV2L CL E G H6499614602Trichohepatoenteric syndrome 2614602C3281289OMIM129810898600478
HP:0009886HP:0009886Trichorrhexis nodosa0SKIV2L CL E G H6499614602Trichohepatoenteric syndrome 2614602C3281289OMIM116510898600478
HP:0009886HP:0009886Trichorrhexis nodosa0SPINK5 CL E G H11005634Leber congenital amaurosisC0339527ORPHA172815464605010
HP:0009886HP:0009886Trichorrhexis nodosa0SPINK5 CL E G H11005634Leber congenital amaurosisC0339527ORPHA163015464605010
HP:0009886HP:0009886Trichorrhexis nodosa0TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM138623639614589
HP:0009886HP:0009886Trichorrhexis nodosa0TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM120123639614589
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009886HP:0009886Trichorrhexis nodosa0ASL CL E G H43523Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1C2931135ORPHA0423746608310
HP:0009886HP:0009886Trichorrhexis nodosa0ASL CL E G H43523Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1C2931135ORPHA0469746608310


Genes (7) :ASL ERCC2 KRT25 MPLKIP SKIV2L SPINK5 TTC37

Diseases (8) :207900 23 601675 616760 234050 614602 634 222470
 

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