|  Help  |  About  |  Contact Us

DO Term : congenital merosin-deficient muscular dystrophy 1A [DOID:0110636] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.
  • synonyms:
  • OMIM:607855,
  • SNOMEDCT_US_2023_03_01:787037000,
  • MESH:C537384,
  • CMD1A,
  • NCI:C118783,
  • UMLS_CUI:C1263858,
  • ORDO:258,
  • MDC1A,
  • 607855,
  • Merosin-negative congenital muscular dystrophy,
  • congenital muscular dystrophy due to laminin alpha2 deficiency
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