|  Help  |  About  |  Contact Us

DO Term : congenital myopathy 18 [DOID:0081350] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32.
  • synonyms:
  • 620246,
  • OMIM:620246
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents