loading...| Preferred Name |
glycine N-methyltransferase deficiency |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111037 |
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| database_cross_reference |
ORDO:289891 ICD10CM:E72.1 GARD:10764 MIM:606664 |
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| 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. |
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| has exact synonym |
hypermethioninemia due to glycine N-methyltransferase deficiency GNMT deficiency hypermethioninemia due to GNMT deficiency |
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| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111037 |
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| in_subset | ||
| label |
glycine N-methyltransferase deficiency |
|
| notation |
DOID:0111037 |
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| prefLabel |
glycine N-methyltransferase deficiency |
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| subClassOf |