Disease #00057 (MUSD (maple syrup urine disease (MUSD)), OMIM:248600)
| Official abbreviation |
MUSD |
| Name |
maple syrup urine disease (MUSD) |
| OMIM ID |
248600 |
| Human Phenotype Ontology Project (HPO) |
HPO |
| Inheritance |
- |
| Individuals reported having this disease |
- |
| Phenotype entries for this disease |
- |
| Associated with 4 genes |
BCKDHA, BCKDHB, DBT, PPM1K |
| Associated tissues |
- |
| Disease features |
- |
| Remarks |
- |
| Date created |
2012-09-21 17:10:19 +02:00 (CEST) |
| Date last edited |
N/A |
|