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GENE - TERM ANNOTATION REPORT

RGD ID: 1311417
Species: Rattus norvegicus
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Short stature

PMID:12787275, PMID:25741868, PMID:28492532
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Short stature

PMID:25741868
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Short stature

PMID:25741868, PMID:8037207
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.