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GENE - TERM ANNOTATION REPORT

RGD ID: 8713164
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Prss56
Name: serine protease 56
Acc ID: DOID:0080634
Term: nanophthalmos
Definition: A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. (DO)
Definition Source(s): https://eyewiki.aao.org/Nanophthalmos "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)
Prss56 ISOPRSS56 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: NanophthalmosPMID:19526372 PMID:21397065 PMID:21532570 PMID:21670352 PMID:22908982 PMID:23127749 PMID:24033266 PMID:24227917 PMID:25741868 PMID:28492532 PMID:31266062 PMID:31992737
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