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GENE - TERM ANNOTATION REPORT

RGD ID: 11899928
Species: Pan paniscus
RGD Object: Gene
Symbol: COL9A3
Name: collagen type IX alpha 3 chain
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)
 ISSRGD:13210499068941ClinVarClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant

 
 ISSRGD:13210499068941ClinVarClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant

PMID:11308397, PMID:22912517, PMID:25741868
 ISSRGD:13210499068941ClinVarClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant

PMID:11565064, PMID:15917166, PMID:25741868
 ISSRGD:13210499068941ClinVarClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant

PMID:21042783, PMID:25741868
 ISSRGD:13210499068941ClinVarClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant

PMID:24033266, PMID:25741868
 ISSRGD:13210499068941ClinVarClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant

PMID:25741868
 ISSRGD:13210499068941ClinVarClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant

PMID:25741868, PMID:26467025
 ISSRGD:13210499068941ClinVarClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant

PMID:25741868, PMID:26467025, PMID:28492532
 ISSRGD:13210499068941ClinVarClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant

PMID:25741868, PMID:28492532
 ISSRGD:13210499068941ClinVarClinVar 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.