Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B2

Preferred Label : Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B2;

NCIt synonyms : MDDGB2;

NCIt definition : An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan.;

Details

Origin ID

C126690;

UMLS CUI

C3150416;

Currated CISMeF NLP mapping
- Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 2 [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 impaired intellectual development), type b, 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) :

You can consult :

recommendations
documents concerning education
documents for patients