Disease association ontology term - MONDO:0014896 - congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

Term summary

ID: MONDO:0014896
Name: congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Ontology or CV name: Disease association

Parents

is_a congenital muscular dystrophy
is_a hereditary neuromuscular disease
is_a hereditary skeletal muscle disorder

Annotation

Disease association

MONDO:0014896 - congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

References:

PB_REF:0000006

Genes:

rqt4 (SPAC1A6.01c)