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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:megaconial type congenital muscular dystrophy
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Accession:DOID:0110632 term browser browse the term
Definition:A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13. (DO)
Synonyms:exact_synonym: MDCMC;   congenital megaconial myopathy;   congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect;   congenital muscular dystrophy with mitochondrial structural abnormalities;   megaconial congenital muscular dystrophy
 broad_synonym: congenital muscular dystrophy, CHKB-related
 primary_id: MESH:C566527
 alt_id: OMIM:602541;   RDO:0014859
 xref: ORDO:280671
For additional species annotation, visit the Alliance of Genome Resources.

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megaconial type congenital muscular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chkb choline kinase beta ISO ClinVar Annotator: match by OMIM:602541
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, CHKB-related
ClinVar Annotator: match by term: Muscular dystrophy, congenital, megaconial type
ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy		 OMIM
ClinVar		 PMID:7767093 PMID:9427222 PMID:21665002 PMID:23692895 PMID:23945283 PMID:24997086 PMID:25326635 PMID:25326637 PMID:25740612 PMID:25741868 PMID:26467025 PMID:26782016 PMID:28492532 NCBI chr 7:130,404,818...130,408,813
Ensembl chr 7:130,404,832...130,408,187 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital muscular dystrophy 71
        megaconial type congenital muscular dystrophy 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  atrophic muscular disease 316
                    muscular dystrophy 314
                      congenital muscular dystrophy 71
                        megaconial type congenital muscular dystrophy 1
paths to the root