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Ontology Browser

primary hypoalphalipoproteinemia 2 (DOID:0080958)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 14 
Norum disease  
primary hypoalphalipoproteinemia 1  
primary hypoalphalipoproteinemia 2 +   
A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23. (DO)
Tangier disease  

Exact Synonyms: APOA1 Deficiency ;   CORNEAL CLOUDING DUE TO APOLIPOPROTEIN A-I DEFICIENCY ;   apolipoprotein A-I deficiency ;   deficiency of apolipoprotein A-I
Narrow Synonyms: absence of apolipoprotein a-i, due to deletion of apoa1/apoc3/apoa4 gene complex ;   primary hypoalphalipoproteinemia 2, autosomal dominant ;   primary hypoalphalipoproteinemia 2, intermediate
Primary IDs: OMIM:618463
Alternate IDs: DOID:9006651 ;   OMIM:619836
Xrefs: GARD:758 ;   ORDO:425
Definition Sources: "DO" "DO"

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