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DO Term : autosomal dominant intellectual developmental disorder 72 [DOID:0061045] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features that has_material_basis_in heterozygous mutation in the SRRM2 gene on chromosome 16p13.
  • synonyms:
  • OMIM:620439,
  • 620439
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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