Muscular dystrophy, congenital, davignon-chauveau type

Preferred Label : Muscular dystrophy, congenital, davignon-chauveau type;

Symbol : MDCDC;

CISMeF acronym : MDCDC;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the thyroid hormone receptor interactor 4 gene (TRIP4, 604501.0003);

Prefixed ID : #617066;

Details

Origin ID

617066;

UMLS CUI

C4310736;

Currated CISMeF NLP mapping
- Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (disorder) [SNOMED CT concept]
- Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome [ORDO Disease]
Genes related to phenotype
- Thyroid hormone receptor interactor 4 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Congenital onset [HPO term]
- Dry skin [HPO term]
- Feeding difficulties [HPO term]
- Follicular hyperkeratosis [HPO term]
- High palate [HPO term]
- Motor delay [HPO term]
- Muscular dystrophy [HPO term]
- Neck muscle weakness [HPO term]
- Pectus excavatum [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Scoliosis [HPO term]
- Severe muscular hypotonia [HPO term]
- Spinal rigidity [HPO term]
ORDO concept(s)
- Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (disorder) [SNOMED CT concept]

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