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loading...| Preferred Name |
HYPERCHOLESTEROLEMIA, FAMILIAL, 4 |
| Synonyms |
ARH2, FORMERLY |
| ID |
http://purl.bioontology.org/ontology/OMIM/603813 |
| altLabel |
ARH2, FORMERLY HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE FHCB1, FORMERLY FHCB2, FORMERLY FHCL4 ARH1, FORMERLY ARH HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 1, FORMERLY HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2, FORMERLY |
| cui |
C1863512 |
| Gene Locus |
1p36-p35 |
| Gene Symbol |
FHCB2 FHCB1 LDLRAP1 ARH FHCL4 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU060295 http://purl.bioontology.org/ontology/OMIM/MTHU002090 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
603813 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
HYPERCHOLESTEROLEMIA, FAMILIAL, 4 |
| Scope Statement |
Caused by mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1, 605747.0001) [MOLECULAR BASIS] |
| tui |
T047 |
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