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GENE - TERM ANNOTATION REPORT

RGD ID: 621521
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Sdf4
Name: stromal cell derived factor 4
Acc ID: DOID:0112198
Term: spondyloepimetaphyseal dysplasia with joint laxity type 1
Definition: A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/10482874/ "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)
Sdf4 ISOSDF4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fracturesPMID:28492532
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