loading...| Preferred Name | familial apolipoprotein C-II deficiency | |
| Synonyms |
hyperlipoproteinemia, type Ib familial APOC2 deficiency C-II anapolipoproteinemia hyperlipoproteinemia, type 1b familial apoC-II deficiency |
|
| Definitions |
A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111418 |
|
| alternative label |
hyperlipoproteinemia, type Ib familial APOC2 deficiency C-II anapolipoproteinemia hyperlipoproteinemia, type 1b familial apoC-II deficiency |
|
| database_cross_reference |
OMIM:207750 UMLS_CUI:C1720779 UMLS_CUI:C0268199 SNOMEDCT_US_2023_03_01:33513003 MESH:D008072 ORDO:309020 |
|
| definition |
A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32. |
|
| has exact synonym |
hyperlipoproteinemia, type Ib familial APOC2 deficiency C-II anapolipoproteinemia hyperlipoproteinemia, type 1b familial apoC-II deficiency |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111418 |
|
| in_subset | ||
| label |
familial apolipoprotein C-II deficiency |
|
| notation |
DOID:0111418 |
|
| note |
A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32. |
|
| preferred label |
familial apolipoprotein C-II deficiency |
|
| prefLabel |
familial apolipoprotein C-II deficiency |
|
| subClassOf |