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GENE - TERM ANNOTATION REPORT

RGD ID: 1595848
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Hbb-b1
Name: hemoglobin, beta adult major chain
Acc ID: DOID:9004506
Term: VITAMIN D-DEPENDENT RICKETS, TYPE 3
Definition: An autosomal disease characterized by early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and deficient responsiveness to the parent molecule as well as activated forms of vitamin D.
Definition Source(s): OMIM:619073
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)
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