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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital merosin-deficient muscular dystrophy 1A
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Accession:DOID:0110636 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: CMD1A;   MDC1A;   Merosin-deficient congenital muscular dystrophy;   Merosin-negative congenital muscular dystrophy;   congenital muscular dystrophy due to laminin alpha2 deficiency
 broad_synonym: congenital muscular dystrophy, LAMA2-related
 related_synonym: LAMININ ALPHA 2-RELATED DYSTROPHY
 primary_id: MESH:C537384
 alt_id: OMIM:607855;   RDO:0003222
 xref: NCI:C118783;   ORDO:258
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congenital merosin-deficient muscular dystrophy 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:5688132
G Lama2 laminin subunit alpha 2 JBrowse link 1 18,491,264 19,143,486 RGD:7240710
RGD:8554872
RGD:13605609
Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lama2 laminin subunit alpha 2 JBrowse link 1 18,491,264 19,143,486 RGD:8554872

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Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          congenital muscular dystrophy 50
            congenital merosin-deficient muscular dystrophy 1A 2
              Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        peripheral nervous system disease 2138
          neuropathy 1960
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    muscular dystrophy 278
                      congenital muscular dystrophy 50
                        congenital merosin-deficient muscular dystrophy 1A 2
                          Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency 1
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