WormMine: DiseaseOntology DOID:0111038 hypermethioninemia due to adenosine kinase deficiency Disease Ontology

Name
Disease Ontology

Identifier	Name	Description
DOID:4	disease	A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:0014667	disease of metabolism	A disease that involving errors in metabolic processes of building or degradation of molecules.
DOID:630	genetic disease	A disease that has_material_basis_in genetic variations in the human genome.
DOID:655	inherited metabolic disorder	A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
DOID:9252	amino acid metabolic disorder	An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
DOID:0050544	hypermethioninemia	An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body.
DOID:0111038	hypermethioninemia due to adenosine kinase deficiency	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.

Name	Type
ADK hypermethioninemia	synonym
autosomal recessive mental retardation 8	synonym
hypermethioninemia encephalopathy due to adenosine kinase deficiency	synonym
hypermethioninemia encephalopathy due to ADK deficiency	synonym
MRT8	synonym

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