Facioscapulohumeral Muscular Dystrophy 2

Preferred Label : Facioscapulohumeral Muscular Dystrophy 2;

NCIt synonyms : FSHD2;

NCIt definition : A form of facioscapulohumeral muscular dystrophy with digenic inheritance, caused by a combination of heterozygous mutation in the SMCHD1 gene and the presence of a haplotype that is permissive for DUX4.;

Détails

Origin ID

C172705;

UMLS CUI

C3837602;

Currated CISMeF NLP mapping
- Facioscapulohumeral muscular dystrophy 2, digenic [OMIM Phenotype]
- facioscapulohumeral muscular dystrophy 1B [MeSH Supplementary Concept]
- facioscapulohumeral muscular dystrophy 2 [DO Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Muscle [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
- Peripheral Nervous System [NCIt concept]
- Soft Tissue [NCIt concept]
See also inter- (CISMeF)
- structural maintenance of chromosomes flexible hinge domain containing 1 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Facioscapulohumeral muscular dystrophy 2, digenic [OMIM Phenotype]
- facioscapulohumeral muscular dystrophy 1B [MeSH Supplementary Concept]
- facioscapulohumeral muscular dystrophy 1B [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Connective and Soft Tissue [NCIt concept]
- Muscle [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
- Peripheral Nervous System [NCIt concept]
- Soft Tissue [NCIt concept]
related_to_genetic_biomarker
- DUX4 Gene [NCIt concept]
- SMCHD1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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