Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 2

Preferred Label : Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 2;

NCIt synonyms : MDDGA2;

NCIt definition : An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation.;

Details

Origin ID

C126742;

UMLS CUI

C3150411;

Currated CISMeF NLP mapping
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 [OMIM Phenotype]
- congenital muscular dystrophy-dystroglycanopathy type A2 [DO Concept]
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, 2 [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
- POMT2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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