Primary Hypoalphalipoproteinemia 2
Disease ID: disease_node_16842
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| Dbxref | GARD:758, MIM:618463, ORDO:425 |
|---|---|
| Subclassof | DOID_1387 |
| Data Source | DOID |
| Synonyms | Apolipoprotein A-I deficiency |
| Doid Label | primary hypoalphalipoproteinemia 2 |
| Doid Description | 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. |
| Disease Node Id | disease_node_16842 |
| Doid Id | DOID_0080958 |
| Label | Primary Hypoalphalipoproteinemia 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Hypolipoproteinemias(ID:disease_node_4190) (Disease)