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Disease Ontology Browser
hypermethioninemia due to adenosine kinase deficiency (DOID:0111038)
Synonyms: ADK hypermethioninemia; autosomal recessive mental retardation 8; hypermethioninemia encephalopathy due to adenosine kinase deficiency; hypermethioninemia encephalopathy due to ADK deficiency; MRT8
Alt IDs: OMIM:614300, ICD10CM:E72.1, ORDO:289290
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.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/15/2017
MGI 6.10
The Jackson Laboratory