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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: MRD31, autosomal dominant mental retardation 31, autosomal dominant non-syndromic intellectual disability 31,
Xenbase Genes : pura
MONDO:0014512 - PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee