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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 chr13:104,946,732...105,007,568 JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy ClinVar PMID:27854218 PMID:28492532 NCBI chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,526...58,927,583
JBrowse link
G LAMA2 laminin subunit alpha 2 treatment ISO OMIM
RGD
PMID:28714989 RGD:13605609 NCBI chr 1:33,765,412...34,359,741
Ensembl chr 1:33,867,639...34,359,698
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 PMID:10852549 PMID:11071490 PMID:12100448 PMID:12552556 PMID:18414213 PMID:20207543 PMID:21520333 PMID:21896784 PMID:21953594 PMID:22166137 PMID:22426012 PMID:23326386 PMID:24082139 PMID:24223650 PMID:24225367 PMID:24611677 PMID:24957499 PMID:25525159 PMID:25587058 PMID:25741868 PMID:26467025 PMID:26607181 PMID:27159402 PMID:27353517 PMID:27854218 PMID:27896284 PMID:28182637 PMID:28492532 PMID:28688748 PMID:29706646 PMID:30055037 PMID:30301903 PMID:30827497 NCBI chr 1:33,765,412...34,359,741
Ensembl chr 1:33,867,639...34,359,698
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12693
    physical disorder 2360
      congenital muscular dystrophy 70
        congenital merosin-deficient muscular dystrophy 1A 3
          Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency 1
Path 2
Term Annotations click to browse term
  disease 12693
    disease of anatomical entity 12233
      nervous system disease 9972
        peripheral nervous system disease 2315
          neuropathy 2154
            neuromuscular disease 1698
              muscular disease 1116
                muscle tissue disease 750
                  atrophic muscular disease 293
                    muscular dystrophy 291
                      congenital muscular dystrophy 70
                        congenital merosin-deficient muscular dystrophy 1A 3
                          Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency 1
paths to the root