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GENE - TERM ANNOTATION REPORT

RGD ID: 732789
Species: Mus musculus
RGD Object: Gene
Symbol: Pomt1
Name: protein-O-mannosyltransferase 1
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/ "DO" "DO", https://www.ninds.nih.gov/Disorders/All-Disorders/Muscular-Dystrophy-Information-Page "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)
Pomt1 ISOPOMT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophyPMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532
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