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GENE - TERM ANNOTATION REPORT

RGD ID: 12151869
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: COL7A1
Name: collagen type VII alpha 1 chain
Acc ID: DOID:9007661
Term: Dwarfism
Definition: A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
Definition Source(s): MESH:D004392
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)
COL7A1 ISOCOL7A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Short staturePMID:12787275 PMID:16971478 PMID:22266148 PMID:25741868 PMID:26076072 PMID:26148662 PMID:28492532 PMID:28830826 PMID:32860008 PMID:35979658 PMID:8037207 PMID:9881948
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