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DO Term : epidermolysis bullosa simplex with mottled pigmentation [DOID:0111346] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13.

synonyms:
SNOMEDCT_US_2023_03_01:254180002,
OMIM:131960,
EBSMP,
MESH:C535959,
131960,
ORDO:79397,
UMLS_CUI:C0432316,
speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering,
GARD:9737,
Epidermolysis bullosa simplex-MP

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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