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GENE - TERM ANNOTATION REPORT

RGD ID: 11799750
Species: Pan paniscus
RGD Object: Gene
Symbol: COL2A1
Name: collagen type II alpha 1 chain
Acc ID: DOID:0112281
Term: spondyloepiphyseal dysplasia Stanescu type
Definition: A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/26183434/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/6430256/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/9592900/ "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)7240710OMIM  
COL2A1 ISOCOL2A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SED, STANESCU TYPE | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, Stanescu type | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, stanescu typePMID:17078022 PMID:17347327 PMID:18272325 PMID:18276201 PMID:19344236 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26183434 PMID:26420734 PMID:26467025 PMID:28492532 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532
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