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GENE - TERM ANNOTATION REPORT

RGD ID: 620978
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Opn1mw
Name: opsin 1, medium wave sensitive
Acc ID: DOID:0111785
Term: frontometaphyseal dysplasia
Definition: An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12612583 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15523633 "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)
Opn1mw ISOOPN1MW (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Frontometaphyseal dysplasiaPMID:15689435 PMID:16080119 PMID:28492532
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