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DO Term : erythrokeratodermia variabilis [DOID:0050467] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis.

synonyms:
MESH:D056266,
Greither Disease,
Erythrokeratodermia Figurata Variabilis,
OMIM:PS133200,
UMLS_CUI:C0265961,
SNOMEDCT_US_2023_03_01:70041004,
NCI:C84696,
ORDO:317,
PS133200,
UMLS_CUI:C1851480

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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