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 fingernail (HP:0040036)help
Term ID: 40036
Name: Onychogryposis of fingernail
Synonym: Overgrowth and curving of fingernail
Definition: Thickened fingernails.
Comments:
Reference: HP:0040036
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandOnychauxis (HP:0012542) help
..expandOnychogryposis of toenails (HP:0008401) 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:0040036HP:0040036Onychogryposis of fingernail0COL7A1 CL E G H12942214ORPHA:158676Localized dystrophic epidermolysis bullosa, nails onlyHP:0040282 - Frequent263
HP:0040036HP:0040036Onychogryposis of fingernail0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional14
HP:0040036HP:0040036Onychogryposis of fingernail0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional5
HP:0040036HP:0040036Onychogryposis of fingernail0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional
HP:0040036HP:0040036Onychogryposis of fingernail0KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent27
HP:0040036HP:0040036Onychogryposis of fingernail0KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent23
HP:0040036HP:0040036Onychogryposis of fingernail0KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent41
HP:0040036HP:0040036Onychogryposis of fingernail0KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent4
HP:0040036HP:0040036Onychogryposis of fingernail0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional98


Genes (9) :COL7A1 DVL1 DVL3 FZD2 KRT16 KRT17 KRT6A KRT6B WNT5A

Diseases (3) :ORPHA:158676 ORPHA:3107 ORPHA:2309
 

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