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GENE - TERM ANNOTATION REPORT

RGD ID: 1586368
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Il23r
Name: interleukin 23 receptor
Acc ID: DOID:0050775
Term: schneckenbecken dysplasia
Definition: An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia "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)
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