loading...| Preferred Name | HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 | |
| Synonyms |
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 4 HYPOBETALIPOPROTEINEMIA, FAMILIAL ACANTHOCYTOSIS WITH HYPOBETALIPOPROTEINEMIA FHBL1 LDLCQ4 FHBL HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/615558 |
|
| altLabel |
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 4 HYPOBETALIPOPROTEINEMIA, FAMILIAL ACANTHOCYTOSIS WITH HYPOBETALIPOPROTEINEMIA FHBL1 LDLCQ4 FHBL HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC |
|
| cui |
C4551990 C4760580 C1862596 |
|
| Gene Locus |
2p24 |
|
| Gene Symbol |
FLDB APOB LDLCQ4 FCHL2 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU019468 http://purl.bioontology.org/ontology/OMIM/MTHU019463 http://purl.bioontology.org/ontology/OMIM/MTHU019464 http://purl.bioontology.org/ontology/OMIM/MTHU019462 http://purl.bioontology.org/ontology/OMIM/MTHU000322 http://purl.bioontology.org/ontology/OMIM/MTHU004856 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
615558 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 |
|
| Scope Statement |
Caused by mutation in the apolipoprotein B gene (APOB, 107730.0001) [MOLECULAR BASIS] Heterozygotes have half-normal levels of APOB-containing lipoproteins [MISCELLANEOUS] |
|
| tui |
T047 T033 |