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Chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase

MedGen UID:
348391
Concept ID:
C1861560
Disease or Syndrome
Synonym: HYPERLIPOPROTEINEMIA, TYPE IC
 
Monarch Initiative: MONDO:0007327
OMIM®: 118830
Orphanet: ORPHA411

Clinical features

From HPO
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Recurrent pancreatitis
MedGen UID:
1639431
Concept ID:
C4551632
Disease or Syndrome
A recurrent form of pancreatitis.
Hyperlipoproteinemia
MedGen UID:
9363
Concept ID:
C0020476
Disease or Syndrome
An abnormal increase in the level of lipoprotein cholesterol in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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