loading...| Preferred Name |
MUSCULAR DYSTROPHY, BECKER TYPE |
|
| Synonyms |
BECKER MUSCULAR DYSTROPHY |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/300376 |
|
| altLabel |
BECKER MUSCULAR DYSTROPHY BMD MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE |
|
| cui |
C0917713 |
|
| Gene Locus |
Xp21.2 |
|
| Gene Symbol |
CMD3B DMD BMD |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU007172 http://purl.bioontology.org/ontology/OMIM/MTHU042230 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU036428 http://purl.bioontology.org/ontology/OMIM/MTHU007170 http://purl.bioontology.org/ontology/OMIM/MTHU028783 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
300376 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
MUSCULAR DYSTROPHY, BECKER TYPE |
|
| Scope Statement |
Survival to advanced age [MISCELLANEOUS] Usual age of onset in the 20s and 30s [MISCELLANEOUS] Caused by mutation in the dystrophin gene (DMD, 300377.0002) [MOLECULAR BASIS] |
|
| tui |
T047 |