loading...| Preferred Name |
APOLIPOPROTEIN C-II DEFICIENCY |
|
| Synonyms |
APOC2 DEFICIENCY |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/207750 |
|
| altLabel |
APOC2 DEFICIENCY C-II ANAPOLIPOPROTEINEMIA HYPERLIPOPROTEINEMIA, TYPE IB |
|
| cui |
C1720779 |
|
| Gene Locus |
19q13.2 |
|
| Gene Symbol |
APOC2 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU012696 http://purl.bioontology.org/ontology/OMIM/MTHU014441 http://purl.bioontology.org/ontology/OMIM/MTHU014440 http://purl.bioontology.org/ontology/OMIM/MTHU002090 http://purl.bioontology.org/ontology/OMIM/MTHU003881 http://purl.bioontology.org/ontology/OMIM/MTHU036371 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
207750 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
APOLIPOPROTEIN C-II DEFICIENCY |
|
| Scope Statement |
Caused by mutation in the apolipoprotein C-II gene (APOC2, 608083.0002) [MOLECULAR BASIS] Transfusion of plasma, which has apoC-II, causes decrease in plasma triglycerides [MISCELLANEOUS] |
|
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/D008072 | MESH | CUI | |
| http://purl.bioontology.org/ontology/MSHFRE/D008072 | MSHFRE | CUI | |
| http://id.nlm.nih.gov/mesh/D008072 | MDM | LOOM |