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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
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| Preferred Name | Muscular Dystrophy, Emery-Dreifuss [Disease/Finding] | |
| Synonyms |
Muscular Dystrophy, Emery-Dreifuss Type Emery-Dreifuss Syndrome Emery-Dreifuss Muscular Dystrophy Muscular Dystrophy, Emery-Dreifuss Emery-Dreifuss Type Muscular Dystrophy |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000004132 |
|
| altLabel |
Muscular Dystrophy, Emery-Dreifuss Type Emery-Dreifuss Syndrome Emery-Dreifuss Muscular Dystrophy Muscular Dystrophy, Emery-Dreifuss Emery-Dreifuss Type Muscular Dystrophy
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| cui |
C0410189
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| MESH DEFINITION |
A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.
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| MESH DUI |
D020389
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|
| MeSH name |
Muscular Dystrophy, Emery-Dreifuss
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|
| MESH UI |
M0328183
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|
| NDFRT kind |
DISEASE_KIND
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|
| notation |
N0000004132
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|
| NUI |
N0000004132
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|
| prefLabel |
Muscular Dystrophy, Emery-Dreifuss [Disease/Finding]
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|
| SNOMED CID |
111508004
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|
| tui |
T047
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| subClassOf |
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