Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nail (HP:0001597)help
Parent Node:
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Onychogryposis (HP:0001805)help
..Starting node
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Onychogryposis of toenails (HP:0008401)help
Term ID: 8401
Name: Onychogryposis of toenails
Synonym: Overgrowth and curving of toenails
Definition: Thickened toenails.
Comments:
Reference: HP:0008401
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandOnychauxis (HP:0012542) help
..expandOnychogryposis of fingernail (HP:0040036) 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:0008401HP:0008401Onychogryposis of toenails0COL7A1 CL E G H12942214ORPHA:158676Localized dystrophic epidermolysis bullosa, nails onlyHP:0040282 - Frequent263
HP:0008401HP:0008401Onychogryposis of toenails0KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0008401HP:0008401Onychogryposis of toenails0KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent27
HP:0008401HP:0008401Onychogryposis of toenails0KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent23
HP:0008401HP:0008401Onychogryposis of toenails0KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent41
HP:0008401HP:0008401Onychogryposis of toenails0KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 3.41
HP:0008401HP:0008401Onychogryposis of toenails0KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent4
HP:0008401HP:0008401Onychogryposis of toenails0PLEC CL E G H53399069OMIM:131950Epidermolysis bullosa simplex, Ogna type.759


Genes (7) :COL7A1 KLHL24 KRT16 KRT17 KRT6A KRT6B PLEC

Diseases (5) :ORPHA:158676 OMIM:617294 ORPHA:2309 OMIM:615726 OMIM:131950
 

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