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GENE - TERM ANNOTATION REPORT

RGD ID: 1321050
Species: Mus musculus
RGD Object: Gene
Symbol: Col9a3
Name: collagen, type IX, alpha 3
Acc ID: DOID:12721
Term: multiple epiphyseal dysplasia
Definition: An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Multiple_epiphyseal_dysplasia, http://ghr.nlm.nih.gov/condition/multiple-epiphyseal-dysplasia
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13210498554872ClinVarClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant

 
 ISORGD:13210498554872ClinVarClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant

PMID:11308397, PMID:22912517, PMID:25741868
 ISORGD:13210498554872ClinVarClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant

PMID:11565064, PMID:15917166, PMID:25741868
 ISORGD:13210498554872ClinVarClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant

PMID:21042783, PMID:25741868
 ISORGD:13210498554872ClinVarClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant

PMID:24033266, PMID:25741868
 ISORGD:13210498554872ClinVarClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant

PMID:25741868
 ISORGD:13210498554872ClinVarClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant

PMID:25741868, PMID:26467025
 ISORGD:13210498554872ClinVarClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant

PMID:25741868, PMID:28492532
 ISORGD:13210498554872ClinVarClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant

PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.