OBO ID: DOID:0111038
Term Name: hypermethioninemia due to adenosine kinase deficiency Search Ontology:
Synonyms:
  • ADK hypermethioninemia
  • autosomal recessive mental retardation 8
  • hypermethioninemia encephalopathy due to adenosine kinase deficiency
  • hypermethioninemia encephalopathy due to ADK deficiency
  • MRT8
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. (2)
References:
Ontology: Human Disease   ( DOID:0111038 )
Relationships
is a type of:
inverse disjoint_from:
OTHER hypermethioninemia due to adenosine kinase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ADK Hypermethioninemia due to adenosine kinase deficiency 614300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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