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GENE - TERM ANNOTATION REPORT

RGD ID: 619855
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ddr2
Name: discoidin domain receptor tyrosine kinase 2
Acc ID: DOID:0112196
Term: spondylometaepiphyseal dysplasia, short limb-hand type
Definition: A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the DDR2 gene on chromosome 1q23.3. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/31406622/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/8434618/ "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)
Ddr2 ISODDR2 (Homo sapiens)7240710OMIM  
Ddr2 ISODDR2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Ddr2 ISODDR2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndromePMID:11375938 PMID:19110212 PMID:20223752 PMID:25741868 PMID:28492532 PMID:29884795 PMID:29904280 PMID:32381727 PMID:8434618 PMID:8818447
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