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
Accession: DOID:0110632
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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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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
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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 PMID:21665002 PMID:23692895 PMID:23945283 PMID:24997086 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26782016 PMID:28005197 PMID:28492532 PMID:28902413 More...
NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461
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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
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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
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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
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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
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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
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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
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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
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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
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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
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