Helsmoortel-Van Der Aa Syndrome

Summary

DOID:0070058 - Helsmoortel-Van Der Aa Syndrome

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13.

Synonyms: autosomal dominant mental retardation 28, HVDAS, MRD28

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: adnp

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014379 - ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

MONDO:0014379 - ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

MIM:

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

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

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant intellectual developmental disorder (is_a)