Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/277410
http://purl.bioontology.org/ontology/OMIM/277410
|
|---|---|
| Preferred Name | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE |
| Synonyms |
METHYLMALONIC ACIDEMIA, cblH TYPE, FORMERLY
METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblD TYPE
MAHCD
METHYLMALONIC ACIDURIA, cblH TYPE, FORMERLY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
METHYLMALONIC ACIDEMIA, cblH TYPE, FORMERLY
METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblD TYPE
MAHCD
METHYLMALONIC ACIDURIA, cblH TYPE, FORMERLY
|
|---|---|
| prefLabel | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE
|
| Gene Symbol |
HMAD
C2orf25
MMADHC
MAHCD
MACD
|
| Scope Statement | Onset in infancy or childhood [MISCELLANEOUS]
Three unrelated families have been reported (last curated September 2024) [MISCELLANEOUS]
Caused by mutation in the metabolism of cobalamin associated D gene (MMADHC, 611935.0007) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 2q23.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 277410
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1848552
|
| Moved from | 606169
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |