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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/277380
http://purl.bioontology.org/ontology/OMIM/277380
|
|---|---|
| Preferred Name | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE |
| Synonyms |
MAHCF
cblF
VITAMIN B12 LYSOSOMAL RELEASE DEFECT
METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblF TYPE
COBALAMIN F DISEASE
METHYLMALONIC ACIDURIA DUE TO VITAMIN B12-RELEASE DEFECT
VITAMIN B12 STORAGE DISEASE
COBALAMIN, DEFECT IN LYSOSOMAL RELEASE OF
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MAHCF
cblF
VITAMIN B12 LYSOSOMAL RELEASE DEFECT
METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblF TYPE
COBALAMIN F DISEASE
METHYLMALONIC ACIDURIA DUE TO VITAMIN B12-RELEASE DEFECT
VITAMIN B12 STORAGE DISEASE
COBALAMIN, DEFECT IN LYSOSOMAL RELEASE OF
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|---|---|
| prefLabel | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
|
| Gene Symbol |
MAHCF
LMBRD1
LMBD1
NESI
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| Scope Statement | Caused by mutation in the LMBR1 domain-containing protein 1 gene (LMBRD1, 612625.0001). [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
See also CblC (277400) [MISCELLANEOUS]
Responsive to vitamin B12 therapy [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 6q13
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 277380
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1848578
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |