Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	glycine N-methyltransferase deficiency
Synonyms	hypermethioninemia due to GNMT deficiency
Definitions	A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21.
ID	http://purl.obolibrary.org/obo/DOID_0111037
database_cross_reference	ICD10CM:E72.1 GARD:10764 ORDO:289891 OMIM:606664
definition	A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21.
has exact synonym	hypermethioninemia due to GNMT deficiency hypermethioninemia due to glycine N-methyltransferase deficiency GNMT deficiency
has_obo_namespace	disease_ontology
id	DOID:0111037
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	glycine N-methyltransferase deficiency
notation	DOID:0111037
prefLabel	glycine N-methyltransferase deficiency
subClassOf	http://purl.obolibrary.org/obo/DOID_0050544

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/606664	Online Mendelian Inheritance in Man	LOOM