loading...| Preferred Name |
HYPERCHOLESTEROLEMIA, FAMILIAL, 1 |
| Synonyms |
FHCL1 |
| ID |
http://purl.bioontology.org/ontology/OMIM/143890 |
| altLabel |
FHCL1 LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2 FHC FH HYPERLIPOPROTEINEMIA, TYPE IIA HYPERLIPOPROTEINEMIA, TYPE II HYPER-LOW-DENSITY-LIPOPROTEINEMIA LDLCQ2 LDL RECEPTOR DISORDER HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL |
| cui |
C3276941 C0745103 |
| Gene Locus |
19p13.2 |
| Gene Symbol |
FHC FHCL1 FH LDLCQ2 LDLR |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU017803 http://purl.bioontology.org/ontology/OMIM/MTHU017801 http://purl.bioontology.org/ontology/OMIM/MTHU017802 http://purl.bioontology.org/ontology/OMIM/MTHU017800 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
144400 |
| notation |
143890 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
HYPERCHOLESTEROLEMIA, FAMILIAL, 1 |
| Scope Statement |
Caused by mutation in the low density lipoprotein receptor gene (LDLR, 606945.0001) [MOLECULAR BASIS] Incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes [MISCELLANEOUS] |
| tui |
T033 T047 |