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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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;   congenital muscular dystrophy due to laminin alpha2 deficiency;   merosin-deficient congenital muscular dystrophy;   merosin-negative congenital muscular dystrophy
 broad_synonym: congenital muscular dystrophy, LAMA2-related
 related_synonym: LAMININ ALPHA 2-RELATED DYSTROPHY
 primary_id: MESH:C537384
 alt_id: OMIM:607855
 xref: NCI:C118783;   ORDO:258
For additional species annotation, visit the Alliance of Genome Resources.



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congenital merosin-deficient muscular dystrophy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO RGD PMID:12383920 RGD:5688132 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
JBrowse link
G Lama2 laminin subunit alpha 2 treatment ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy OMIM
ClinVar
RGD
PMID:7550355 PMID:8957020 PMID:9158149 PMID:9185182 PMID:9536098 More... RGD:13605609 NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530
JBrowse link
Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency ClinVar PMID:8957020 PMID:9158149 PMID:9541105 PMID:9674786 PMID:10611118 More... NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    physical disorder 4194
      congenital muscular dystrophy 116
        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 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        peripheral nervous system disease 3018
          neuropathy 2804
            neuromuscular disease 2223
              muscular disease 1453
                muscle tissue disease 950
                  atrophic muscular disease 422
                    muscular dystrophy 420
                      congenital muscular dystrophy 116
                        congenital merosin-deficient muscular dystrophy 1A 2
                          Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency 1
paths to the root