Summary Literature (0)

DOID:0111039 - hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

Disease Ontology Definition:A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11.

Synonyms: hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency, psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency

Xenbase Genes : ahcy

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013404 - hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

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

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