Summary Literature (0)

DOID:0070061 - autosomal dominant intellectual developmental disorder 31

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3.

Synonyms: autosomal dominant mental retardation 31, autosomal dominant non-syndromic intellectual disability 31, MRD31

Xenbase Genes : pura

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014512 - PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

MIM:

MIM:616158 - NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES; NEDRIHF

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

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