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General Information
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| Term |
glycine N-methyltransferase deficiency |
ID (Ontology) |
DOID:0111037 (Human Disease) |
| 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. |
| Also Known As |
"GNMT deficiency" ; "hypermethioninemia due to glycine N-methyltransferase deficiency" ; "hypermethioninemia due to GNMT deficiency" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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glycine N-methyltransferase deficiency | 1 | for disease ribbon | glycine N-methyltransferase deficiency | 1 | model of | glycine N-methyltransferase deficiency | 1 |
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Relationships