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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615135
http://purl.bioontology.org/ontology/OMIM/615135
|
|---|---|
| Preferred Name | MAPLE SYRUP URINE DISEASE, MILD VARIANT |
| Synonyms |
MSUDMV
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MSUDMV
|
|---|---|
| prefLabel | MAPLE SYRUP URINE DISEASE, MILD VARIANT
|
| Gene Symbol |
PP2CM
MSUDMV
PPM1K
PTMP
|
| Scope Statement | Lack of neurologic or metabolic features on low-BCAA protein diet [MISCELLANEOUS]
Caused by mutation in the protein phosphatase, PP2C domain-containing, 1K gene (PPM1K, 611065.0001). [MOLECULAR BASIS]
Onset at birth [MISCELLANEOUS]
One patient has been reported (as of curation date March, 2013) [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 4q22.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615135
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3554575
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |