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GENE - TERM ANNOTATION REPORT

RGD ID: 1302971
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Adm2
Name: adrenomedullin 2
Acc ID: DOID:0110632
Term: megaconial type congenital muscular dystrophy
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)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16371353 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/21665002 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Adm2 ISOADM2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Megaconial type congenital muscular dystrophyPMID:21665002 PMID:28492532
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