Preferred Name |
glycine N-methyltransferase deficiency |
|
Synonyms |
hypermethioninemia due to glycine N-methyltransferase deficiency |
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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 |
ORDO:289891 ICD10CM:E72.1 OMIM:606664 GARD:10764 |
|
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 glycine N-methyltransferase deficiency GNMT deficiency hypermethioninemia due to GNMT deficiency |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:0111037 |
|
in_subset | ||
label |
glycine N-methyltransferase deficiency |
|
notation |
DOID:0111037 |
|
prefLabel |
glycine N-methyltransferase deficiency |
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subClassOf |