Summary Literature (0)

DOID:0111038 - hypermethioninemia due to adenosine kinase deficiency

Disease Ontology Definition:A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22.

Synonyms: ADK hypermethioninemia, autosomal recessive mental retardation 8, hypermethioninemia encephalopathy due to adenosine kinase deficiency, hypermethioninemia encephalopathy due to ADK deficiency, MRT8

Xenbase Genes : adk

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013676 - obsolete hypermethioninemia due to adenosine kinase deficiency

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

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