loading...| Preferred Name |
HYPOALPHALIPOPROTEINEMIA, PRIMARY, 1 |
|
| Synonyms |
FAMILIAL HDL DEFICIENCY FHA HDL CHOLESTEROL, LOW SERUM FHD HYPOALPHALIPOPROTEINEMIA, FAMILIAL HDLC HIGH DENSITY LIPOPROTEIN DEFICIENCY HDLD |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/604091 |
|
| altLabel |
FAMILIAL HDL DEFICIENCY FHA HDL CHOLESTEROL, LOW SERUM FHD HYPOALPHALIPOPROTEINEMIA, FAMILIAL HDLC HIGH DENSITY LIPOPROTEIN DEFICIENCY HDLD |
|
| cui |
C2931838 C1704429 C5231558 |
|
| Gene Locus |
9q22-q31 |
|
| Gene Symbol |
HPALP1 TGD ABCA1 HDLCQTL13 ABC1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU073666 http://purl.bioontology.org/ontology/OMIM/MTHU002067 http://purl.bioontology.org/ontology/OMIM/MTHU072408 http://purl.bioontology.org/ontology/OMIM/MTHU073664 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
604091 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
HYPOALPHALIPOPROTEINEMIA, PRIMARY, 1 |
|
| Scope Statement |
Decreased cellular cholesterol efflux [MISCELLANEOUS] Caused by mutation in the ATP-binding cassette 1 gene (ABCA1, 600046.0004) [MOLECULAR BASIS] |
|
| tui |
T047 |