Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1

Preferred Label : Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1;

NCIt synonyms : MDDGA1;

NCIt definition : An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death.;

NCI Metathesaurus CUI : CL509267;

Détails

Origin ID

C128118;

UMLS CUI

C4284790;

Automatic exact mappings (from CISMeF team)
- Walker-Warburg syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 [OMIM Phenotype]
- congenital muscular dystrophy-dystroglycanopathy type A1 [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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 [OMIM Phenotype]
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]
disease_mapped_to_gene
- POMT1 Gene [NCIt concept]

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

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