Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 6

Preferred Label : Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 6;

NCIt synonyms : MDDGA6;

NCIt definition : An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.;

Details

Origin ID

C126743;

UMLS CUI

C3150414;

Automatic exact mappings (from CISMeF team)
- congenital muscular dystrophy-dystroglycanopathy type A6 [DO Concept]
Currated CISMeF NLP mapping
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 [OMIM Phenotype]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Peripheral Nerve [NCIt concept]
disease_mapped_to_gene
- LARGE1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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