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DO Term : autosomal dominant intellectual developmental disorder 60 with seizures [DOID:0061050] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life that has_material_basis_in heterozygous mutation in the AP2M1 gene on chromosome 3q27.
  • synonyms:
  • OMIM:618587,
  • 618587,
  • MRD60
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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