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GENE - TERM ANNOTATION REPORT

RGD ID: 12221620
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: GLB1
Name: galactosidase beta 1
Acc ID: DOID:0112280
Term: spondyloepiphyseal dysplasia
Definition: An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs. (DO)
Definition Source(s): https://emedicine.medscape.com/article/1260836-overview "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/16080123/ "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)
GLB1 ISOGLB1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloepiphyseal dysplasiaPMID:10841810 PMID:19472408 PMID:21497194 PMID:23831247 PMID:25741868 PMID:26646981 PMID:28492532 PMID:8922281
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