Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 4

Preferred Label : Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 4;

NCIt synonyms : MDDGA4;

NCIt definition : An autosomal recessive muscular dystrophy caused by mutations in the gene encoding fukutin (FKTN). It is associated with characteristic brain and eye malformations, seizures, and mental retardation.;

Details

Origin ID

C126741;

UMLS CUI

C0410174;

Currated CISMeF NLP mapping
- Congenital muscular dystrophy Fukuyama type [ICD-11 More detail]
- Congenital muscular dystrophy, Fukuyama type [ORDO Disease]
- Fukuyama congenital muscular dystrophy [DO Concept]
- Fukuyama congenital muscular dystrophy [Disease (Nov.)]
- Fukuyama congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 [OMIM Phenotype]
- fukuyama type congenital muscular dystrophy [MeSH 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)
- Congenital muscular dystrophy, Fukuyama type [ORDO Disease]
- Fukuyama congenital muscular dystrophy [DO Concept]
- Fukuyama congenital muscular dystrophy [Disease (Nov.)]
- Fukuyama congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 [OMIM Phenotype]
- fukuyama type congenital muscular dystrophy [MeSH concept]
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
- FKTN Gene [NCIt concept]

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