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DO Term : autosomal dominant intellectual developmental disorder 40 [DOID:0070070] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34.

synonyms:
MRD40,
autosomal dominant non-syndromic intellectual disability 40,
autosomal dominant mental retardation 40,
616579,
OMIM:616579

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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