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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 Adm2 adrenomedullin 2 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 NCBI chr 7:120,393,219...120,394,965
Ensembl chr 7:120,393,179...120,396,331 		JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy OMIM
ClinVar		 PMID:7767093 PMID:9427222 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461 		JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404 		JBrowse link
G Klhdc7b kelch domain containing 7B ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 NCBI chr 7:120,452,081...120,456,094
Ensembl chr 7:120,453,932...120,455,737 		JBrowse link
G Lmf2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 NCBI chr 7:120,418,343...120,422,825
Ensembl chr 7:120,418,345...120,422,823 		JBrowse link
G Miox myo-inositol oxygenase ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 NCBI chr 7:120,405,031...120,407,529
Ensembl chr 7:120,405,031...120,407,537 		JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938 		JBrowse link
G Odf3b outer dense fiber of sperm tails 3B ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 NCBI chr 7:120,444,232...120,447,383
Ensembl chr 7:120,444,232...120,446,749 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902 		JBrowse link
G Syce3 synaptonemal complex central element protein 3 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 NCBI chr 7:120,456,800...120,482,882
Ensembl chr 7:120,456,800...120,482,973 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    physical disorder 4115
      congenital muscular dystrophy 116
        megaconial type congenital muscular dystrophy 11
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        peripheral nervous system disease 2989
          neuropathy 2780
            neuromuscular disease 2199
              muscular disease 1431
                muscle tissue disease 947
                  atrophic muscular disease 420
                    muscular dystrophy 418
                      congenital muscular dystrophy 116
                        megaconial type congenital muscular dystrophy 11
paths to the root