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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:0111814
Term: methylmalonic acidemia and homocysteinemia cblX type
Definition: A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23000143 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/24011988 "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: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3PMID:15689435 PMID:16080119 PMID:28492532
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