Statements (15)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
disease phenotype
|
| gptkbp:associatedWith |
gptkb:Tangier_disease
|
| gptkbp:characterizedBy |
peripheral neuropathy
hepatosplenomegaly lymphadenopathy corneal opacities orange tonsils very low HDL cholesterol |
| gptkbp:firstDescribed |
1961
|
| https://www.w3.org/2000/01/rdf-schema#label |
Tangier disease phenotype
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:ABCA1_gene
|
| gptkbp:namedAfter |
gptkb:Tangier_Island
|
| gptkbp:bfsParent |
gptkb:ABCA1
|
| gptkbp:bfsLayer |
7
|