Human Phenotype Ontology 
Grandparent Node:
expandLocalized skin lesion (HP:0011355)help
Parent Node:
expandEpidermal thickening (HP:0011368)help
Parent Node:
expandSkin nodule (HP:0200036)help
..Starting node
..expandAcrokeratosis (HP:0200016)help
Term ID: 200016
Name: Acrokeratosis
Synonym: Acral keratosis
Definition: Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.
Comments:
Reference: HP:0200016
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHyperpigmented nodule (HP:0025529) help
..expandNodular changes affecting the eyelids (HP:0010732) help
..expandOsteoma cutis (HP:0025027) help
..expandSubcutaneous nodule (HP:0001482) help
..expandUmbilicated nodule (HP:0025103) help
..expandYellow nodule (HP:0025554) 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:0200016HP:0200016Acrokeratosis0ATP2A2 CL E G H488812OMIM:101900Acrokeratosis verruciformis.86
HP:0200016HP:0200016Acrokeratosis0ATP2A2 CL E G H488812ORPHA:218Darier diseaseHP:0040281 - Very frequent86
HP:0200016HP:0200016Acrokeratosis0ATP2A2 CL E G H488812OMIM:124200Darier-White disease.86
HP:0200016HP:0200016Acrokeratosis0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0200016HP:0200016Acrokeratosis0PTEN CL E G H57289588ORPHA:65285Lhermitte-Duclos diseaseHP:0040282 - Frequent948


Genes (2) :ATP2A2 PTEN

Diseases (5) :OMIM:101900 ORPHA:218 OMIM:124200 OMIM:158350 ORPHA:65285
 

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