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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/250940
http://purl.bioontology.org/ontology/OMIM/250940
|
|---|---|
| Preferred Name | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG TYPE |
| Synonyms |
METHIONINE SYNTHASE DEFICIENCY
METHYLCOBALAMIN DEFICIENCY, cblG TYPE
HMAG
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | METHIONINE SYNTHASE DEFICIENCY
METHYLCOBALAMIN DEFICIENCY, cblG TYPE
HMAG
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE
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|---|---|
| prefLabel | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG TYPE
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| Gene Symbol |
MTR
HMAG
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| Scope Statement | Onset in infancy [MISCELLANEOUS]
Symptoms are responsive to cobalamin treatment [MISCELLANEOUS]
Later onset has been reported [MISCELLANEOUS]
Caused by mutation in the methionine synthase gene (MTR, 156570.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 1q43
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 250940
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1855128
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |