About: homocystinuria-megaloblastic anemia cblG type

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal recessive disease amino acid metabolic disorder nodeID://b50946382
label	homocystinuria-megaloblastic anemia cblG type
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0112256
database_cross_reference	GARD:3577 OMIM:250940 ORDO:2170
has_exact_synonym	HMAG methylcobalamin deficiency, cblG type homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type homocystinuria-megaloblastic anemia, cblG complementation type
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50946383

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