Human Phenotype Ontology 
Grandparent Node:
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Epidermal thickening (HP:0011368)help
Parent Node:
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Ichthyosis (HP:0008064)help
..Starting node
..expand
Localized epidermolytic hyperkeratosis (HP:0007559)help
Term ID: 7559
Name: Localized epidermolytic hyperkeratosis
Synonym: Localised epidermolytic hyperkeratosis
Definition:
Comments:
Reference: HP:0007559
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCongenital ichthyosiform erythroderma (HP:0007431) help
..expandGeneralized ichthyosis (HP:0007503) help
..expandIchthyosis follicularis (HP:0031291) help
..expandPostnatal-onset ichthyosiform erythroderma (HP:0007395) 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:0007559HP:0007559Localized epidermolytic hyperkeratosis0KRT1 CL E G H38486412OMIM:144200Palmoplantar keratoderma, epidermolytic100
HP:0007559HP:0007559Localized epidermolytic hyperkeratosis0KRT9 CL E G H38576447OMIM:144200Palmoplantar keratoderma, epidermolytic66
HP:0007559HP:0007559Localized epidermolytic hyperkeratosis0TGM1 CL E G H705111777ORPHA:281127Acral self-healing collodion babyHP:0040281 - Very frequent98


Genes (3) :KRT1 KRT9 TGM1

Diseases (2) :OMIM:144200 ORPHA:281127
 

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