Norum disease
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04180 | Phosphatidylcholine-sterol acyltransferase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16301 | Phosphatidylcholine-sterol acyltransferase |
| HPO ID | HPO Term |
|---|---|
| HP:0001084 | Corneal arcus |
| HP:0003233 | Decreased HDL cholesterol concentration |
| HP:0000083 | Renal insufficiency |
| HP:0003651 | Foam cells |
| HP:0001895 | Normochromic anemia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002155 | Hypertriglyceridemia |
| HP:0000093 | Proteinuria |
| HP:0003581 | Adult onset |
| HP:0001878 | Hemolytic anemia |
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Last updated: December 8, 2025