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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Id | http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C148369
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C148369
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|---|---|
| Preferred Name | Muscular Dystrophy Congenital, LMNA-Related |
| Definitions |
An autosomal recessive muscular dystrophy caused by mutation(s) in the LMNA gene, encoding prelamin-A/C. Limb-girdle muscular dystrophy type 1B and Emery-Dreifuss muscular dystrophy-2 are allelic disorders with overlapping phenotypes.
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| Synonyms |
Muscular Dystrophy Congenital, LMNA-Related
MDCL
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
Muscular Dystrophy Congenital, LMNA-Related
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|---|---|
| Preferred_Name |
Muscular Dystrophy Congenital, LMNA-Related
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| Semantic_Type |
Disease or Syndrome
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| prefixIRI |
Thesaurus:C148369
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| DEFINITION |
An autosomal recessive muscular dystrophy caused by mutation(s) in the LMNA gene, encoding prelamin-A/C. Limb-girdle muscular dystrophy type 1B and Emery-Dreifuss muscular dystrophy-2 are allelic disorders with overlapping phenotypes.
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| UMLS_CUI |
C2750785
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| code |
C148369
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| subClassOf | |
| type | |
| FULL_SYN |
Muscular Dystrophy Congenital, LMNA-Related
MDCL
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| Contributing_Source |
Cellosaurus
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| Concept_In_Subset |
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