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GENE - TERM ANNOTATION REPORT

CRRD ID: 11692792
Species: Pan paniscus
CRRD Object: Gene
Symbol: POMT2
Name: protein O-mannosyltransferase 2
Acc ID: DOID:0050557
Term: congenital muscular dystrophy
Definition: A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. (DO)
Definition Source(s): http://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/, https://www.ninds.nih.gov/Disorders/All-Disorders/Muscular-Dystrophy-Information-Page
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)
POMT2 ISSRGD:13134809068941ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy

 
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