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GENE - TERM ANNOTATION REPORT

RGD ID: 1594557
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cfp
Name: complement factor properdin
Acc ID: DOID:0090110
Term: immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Definition: An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome "DO" "DO", https://www.omim.org/entry/304790 "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)
Cfp ISOCFP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndromePMID:11137992 PMID:11137993 PMID:28492532
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