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GENE - TERM ANNOTATION REPORT

RGD ID: 12099706
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: LIPA
Name: lipase A, lysosomal acid type
Acc ID: DOID:6688
Term: autoimmune lymphoproliferative syndrome
Definition: A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome "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)
LIPA ISOLIPA (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominantPMID:10875918 PMID:22237435 PMID:28492532
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