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DO Term : ectodermal dysplasia 1 [DOID:0111664] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1.

synonyms:
HED1,
XLHED,
ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked,
OMIM:305100,
hypohidrotic ectodermal dysplasia, X-Linked,
ectodermal dysplasia 1, anhidrotic,
CST syndrome,
ectodermal dysplasia 1, hypohidrotic, X-linked,
XHED,
Christ-Siemens-Touraine syndrome,
ED1,
SNOMEDCT_US_2023_03_01:239007005,
NCI:C84562,
MESH:D053358,
305100,
X-linked anhidrotic ectodermal dysplasia,
ORDO:181,
UMLS_CUI:C0162359

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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