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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 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Lama2 laminin subunit alpha 2 treatment ISO ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy
ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy
ClinVar Annotator: match by term: Muscular dystrophy, congenital, merosin-deficient 1A
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related
ClinVar Annotator: match by OMIM:607855
OMIM
ClinVar
PMID:0055037, PMID:1061118, PMID:2152033, PMID:7550355, PMID:8957020, PMID:9158149, PMID:9185182, PMID:9541105, PMID:9674786, PMID:9829280, PMID:10022829, PMID:10611118, PMID:10619025, PMID:10694916, PMID:10747011, PMID:10852549, PMID:11071490, PMID:11287370, PMID:11369186, PMID:11591858, PMID:11938437, PMID:12100448, PMID:12552556, PMID:12601554, PMID:16216942, PMID:17949279, PMID:18414213, PMID:18700894, PMID:19294599, PMID:19388593, PMID:20207543, PMID:21520333, PMID:21896784, PMID:21922472, PMID:21953594, PMID:22166137, PMID:22426012, PMID:22675738, PMID:23326386, PMID:23757202, PMID:23911319, PMID:24033266, PMID:24082139, PMID:24223650, PMID:24225367, PMID:24534542, PMID:24611677, PMID:24957499, PMID:25124546, PMID:25214167, PMID:25326637, PMID:25332755, PMID:25525159, PMID:25663498, PMID:25741868, PMID:26104111, PMID:26304763, PMID:26436962, PMID:26467025, PMID:26607181, PMID:26633542, PMID:27159402, PMID:27353517, PMID:27447704, PMID:27708273, PMID:27854218, PMID:27858741, PMID:27858771, PMID:27896284, PMID:27932089, PMID:28182637, PMID:28445022, PMID:28492532, PMID:28554332, PMID:28688748, PMID:28877744, PMID:29706646, PMID:30055037, PMID:30147969, PMID:30301903, PMID:30311386, PMID:30373198, PMID:30827497, PMID:32860008, PMID:28714989 RGD:13605609 NCBI chr 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269
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 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          congenital muscular dystrophy 70
            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 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            neuromuscular disease 1805
              muscular disease 1223
                muscle tissue disease 830
                  atrophic muscular disease 333
                    muscular dystrophy 331
                      congenital muscular dystrophy 70
                        congenital merosin-deficient muscular dystrophy 1A 2
                          Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency 1
paths to the root

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