- Concept UI
- M000678538
- Scope Note
- Congenital neuromuscular and muscular dystrophy diseases associated with mutations in the LAMIN TYPE A (Lamin A/C or LMNA gene). It includes CARDIOMYOPATHY, DILATED, 1A; CHARCOT-MARIE-TOOTH DISEASE, type 2B1; EMERY-DREIFUSS MUSCULAR DYSTROPHY, types 2 and 3; HUTCHINSON-GILFORD PROGERIA SYNDROME; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Malouf syndrome; Mandibuloacral dysplasia; LMNA-related muscular dystrophy; Restrictive dermopathy, lethal; Heart-hand syndrome, Slovenian type.
- Terms
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Laminopathies
Preferred Term
Term UI
T001004601
Date01/03/2020
LexicalTag
NON
ThesaurusID
NLM (2021)
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LMNA-Linked Diseases
Term UI
T001004861
Date01/07/2020
LexicalTag
ABX
ThesaurusID
NLM (2021)
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LMNA-Associated Diseases
Term UI
T001004862
Date01/07/2020
LexicalTag
ABX
ThesaurusID
NLM (2021)