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GENE - TERM ANNOTATION REPORT

RGD ID: 18414204
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: COL2A1
Name: collagen type II alpha 1 chain
Acc ID: DOID:0080044
Term: hypochondrogenesis
Definition: An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Hypochondrogenesis "DO" "DO", http://ghr.nlm.nih.gov/condition/hypochondrogenesis "DO" "DO", http://www.healthline.com/galecontent/hypochondrogenesis "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)
COL2A1 ISOCOL2A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HypochondrogenesisPMID:1429602 PMID:2572591 PMID:3195588
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