autosomal dominant intellectual developmental disorder 36

Summary

DOID:0070066 - autosomal dominant intellectual developmental disorder 36

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41.

Synonyms: MRD36, autosomal dominant mental retardation 36, autosomal dominant non-syndromic intellectual disability 36,

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

: ppp2r1a

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014605 - microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome

MONDO:0014605 - microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome

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)