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Echinobase
Summary Literature (0)
DOID:0070058 - Helsmoortel-Van Der Aa Syndrome

Disease Ontology Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ADNP on chromosome 20q13.13.

Synonyms: HVDAS, MRD28, autosomal dominant mental retardation 28,

Echinobase Genes :


OMIM:
MIM:615873 - mental retardation, autosomal dominant, 28; mrd28

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant intellectual developmental disorder (is_a)