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Online Mendelian Inheritance in Man
| Preferred Name | MUSCULAR DYSTROPHY, DUCHENNE TYPE | |
| Synonyms |
DMD MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPE DUCHENNE MUSCULAR DYSTROPHY |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/310200 |
|
| altLabel |
DMD MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPE DUCHENNE MUSCULAR DYSTROPHY
|
|
| cui |
C0013264
|
|
| Gene Locus |
Xp21.2
|
|
| Gene Symbol |
CMD3B DMD BMD
|
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU007171 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU025498 http://purl.bioontology.org/ontology/OMIM/MTHU007172 http://purl.bioontology.org/ontology/OMIM/MTHU003721 http://purl.bioontology.org/ontology/OMIM/MTHU000317 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU036428 http://purl.bioontology.org/ontology/OMIM/MTHU019869 http://purl.bioontology.org/ontology/OMIM/MTHU007170 http://purl.bioontology.org/ontology/OMIM/MTHU020258 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU007168 http://purl.bioontology.org/ontology/OMIM/MTHU007173 http://purl.bioontology.org/ontology/OMIM/MTHU036382 http://purl.bioontology.org/ontology/OMIM/MTHU005753 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
|
| notation |
310200
|
|
| OMIM Entry Type |
3
|
|
| OMIM MimType Value |
pound
|
|
| prefLabel |
MUSCULAR DYSTROPHY, DUCHENNE TYPE
|
|
| Scope Statement |
Caused by mutation in the dystrophin gene (DMD, 300377.0001) [MOLECULAR BASIS] Incidence of 1 in 3,500 boys [MISCELLANEOUS] Usual onset before age 6 years and death by age 20 [MISCELLANEOUS] About 8% of female mutation carriers develop dilated cardiomyopathy [MISCELLANEOUS] About 20% of female mutation carriers may show mild muscle weakness [MISCELLANEOUS]
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|
| tui |
T047
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |