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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620953
http://purl.bioontology.org/ontology/OMIM/620953
|
|---|---|
| Preferred Name | METHYLMALONIC ACIDURIA, cblD TYPE |
| Synonyms |
METHYLMALONIC ACIDURIA, cblD TYPE, VARIANT 2
MACD
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
METHYLMALONIC ACIDURIA, cblD TYPE, VARIANT 2
MACD
|
|---|---|
| prefLabel | METHYLMALONIC ACIDURIA, cblD TYPE
|
| Gene Symbol |
HMAD
C2orf25
MMADHC
MAHCD
MACD
|
| Scope Statement | Variable manifestations [MISCELLANEOUS]
Two unrelated patients have been reported (last curated September 2024) [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Caused by mutation in the metabolism of cobalamin associated D gene (MMADHC, 611935.0004) [MOLECULAR BASIS]
Early treatment may result in some clinical and biochemical improvement [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2q23.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620953
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1848554
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |