Phenotype #0000271657

Individual ID 00376449
Associated disease STSL
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Hypercholesterolemia(HP:0003124),Elevated circulating sitosterol concentration(HP:0033341),Hyperapobetalipoproteinemia(HP:0008158),No Chronic hemolytic anemia(-HP:0004870),No Stomatocytosis(-HP:0004446),No Arthralgia(-HP:0002829),No Coronary artery atherosclerosis(-HP:0001677),No Splenomegaly(-HP:0001744),No Abnormality of the liver(-HP:0001392),No Thrombocytopenia(-HP:0001873)
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis 03y03m
Age/Onset 01y03m
Phenotype/Onset Tuberous xanthoma(HP:0031290)
Owner name Wenjuan Qiu
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Wenjuan Qiu
Date created 2021-06-22 17:25:48 +02:00 (CEST)
Date last edited 2021-11-04 11:08:47 +01:00 (CET)

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