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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
 xref: ORDO:280671

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show annotations for term's descendants           Sort by:
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:28492532 NCBI chrNW_004936629:360,845...362,499
Ensembl chrNW_004936629:360,305...362,846 		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 chrNW_004936629:242,876...246,806
Ensembl chrNW_004936629:243,095...247,093 		JBrowse link
G Cimap1b ciliary microtubule associated protein 1B ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chrNW_004936629:313,441...314,936
Ensembl chrNW_004936629:313,441...314,936 		JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chrNW_004936629:246,876...255,537
Ensembl chrNW_004936629:247,005...255,537 		JBrowse link
G Klhdc7b kelch domain containing 7B ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chrNW_004936629:282,194...284,017 JBrowse link
G Lmf2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chrNW_004936629:332,772...336,927
Ensembl chrNW_004936629:332,768...337,062 		JBrowse link
G LOC101962609 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chrNW_004936629:318,581...320,804
Ensembl chrNW_004936629:318,581...320,795 		JBrowse link
G Miox myo-inositol oxygenase ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chrNW_004936629:355,517...357,678
Ensembl chrNW_004936629:355,362...357,697 		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:28492532 NCBI chrNW_004936629:320,885...327,290
Ensembl chrNW_004936629:321,011...327,607 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chrNW_004936629:367,253...393,355
Ensembl chrNW_004936629:367,226...393,352 		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:28492532 NCBI chrNW_004936629:264,077...281,119
Ensembl chrNW_004936629:264,077...281,119 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chrNW_004936629:315,609...320,356
Ensembl chrNW_004936629:315,610...319,076 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    physical disorder 4664
      congenital muscular dystrophy 174
        megaconial type congenital muscular dystrophy 12
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        peripheral nervous system disease 3886
          neuropathy 3704
            neuromuscular disease 2899
              muscular disease 2043
                muscle tissue disease 1226
                  myopathy 950
                    muscular dystrophy 574
                      congenital muscular dystrophy 174
                        megaconial type congenital muscular dystrophy 12
paths to the root