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DO Term : ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome [DOID:0111649] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CDH3 gene on chromosome 16q22.1.

synonyms:
225280,
OMIM:225280,
EEMS,
ORDO:1897,
EEM syndrome,
ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome,
GARD:2078

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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