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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8645254
Species: Homo sapiens
RGD Object: Variant
Symbol: CV104662
Name: NM_001034853.2(RPGR):c.28+5G>A
Acc ID: DOID:8501
Term: fundus dystrophy
Definition: A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.
Definition Source(s): MESH:D058499
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)
CV104662 IAGP 8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:10480356 PMID:17576681 PMID:28492532 PMID:30924848 PMID:31213501 PMID:9536098
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