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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

Xenbase Genes : adnp

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014379 - ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

OMIM:
OMIM:615873 - HELSMOORTEL-VAN DER AA SYNDROME; HVDAS

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

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