Lethal congenital contracture syndrome 4

Preferred Label : Lethal congenital contracture syndrome 4;

Symbol : LCCS4;

CISMeF acronym : LCCS4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the slow-type myosin-binding protein-C gene (MYBPC1, 160794.0003);

Prefixed ID : #614915;

Détails

Origin ID

614915;

UMLS CUI

C3554046;

Currated CISMeF NLP mapping
- lethal congenital contracture syndrome 4 [DO Concept]
Genes related to phenotype
- Myosin-binding protein C, slow type [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Distal arthrogryposis [HPO term]
- Flexion contracture [HPO term]
- Multiple joint contractures [HPO term]
- Respiratory insufficiency [HPO term]
- Skeletal muscle atrophy [HPO term]
ORDO concept(s)
- Lethal congenital contracture syndrome type 3 [ORDO Disease]
See also inter- (CISMeF)
- Lethal congenital contracture syndrome type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- lethal congenital contracture syndrome 4 [DO Concept]

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

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