Human Disease Ontology

Last uploaded: November 1, 2024
Preferred Name

epidermolytic hyperkeratosis
Synonyms

Bullous ichthyosiform erythroderma

Epidermolytic palmoplantar hyperkeratosis

epidermolytic ichthyosis

Definitions

An ichthyosis that is characterized by generalized erythema, skin blisters and skin fragility, manifested at birth.

ID

http://purl.obolibrary.org/obo/DOID_4603

database_cross_reference

ICD10CM:Q80.3

MESH:D017488

UMLS_CUI:C0079153

MIM:PS113800

SNOMEDCT_US_2023_03_01:20512000

NCI:C62569

definition

An ichthyosis that is characterized by generalized erythema, skin blisters and skin fragility, manifested at birth.

existence starts during

http://purl.obolibrary.org/obo/HP_0003577

has exact synonym

Bullous ichthyosiform erythroderma

Epidermolytic palmoplantar hyperkeratosis

epidermolytic ichthyosis

has_obo_namespace

disease_ontology

id

DOID:4603

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

epidermolytic hyperkeratosis

notation

DOID:4603

prefLabel

epidermolytic hyperkeratosis

subClassOf

http://purl.obolibrary.org/obo/DOID_1697

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