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DO Term : Helsmoortel-Van Der Aa Syndrome [DOID:0070058] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13.
  • synonyms:
  • 615873,
  • OMIM:615873,
  • MRD28,
  • HVDAS,
  • autosomal dominant mental retardation 28
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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