About   Help   FAQ
Human Disease and Mouse Model Detail
Human Disease Hypercholesterolemia, Familial
OMIM ID: 143890
Human Phenotype Ontology associations
Synonyms FHC; FH; Hyper-Low-Density-Lipoproteinemia; Hypercholesterolemia; Hypercholesterolemic Xanthomatosis, Familial; Hyperlipoproteinemia, Type II; Hyperlipoproteinemia, Type IIA
View all models View ALL (7) mouse models for this human disease.
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     LDLR* Ldlr* View 7 models HomoloGene and HGNC
     ABCA1* Abca1   HomoloGene and HGNC
APOA2* Apoa2   HomoloGene and HGNC
EPHX2* Ephx2   HomoloGene and HGNC
GHR* Ghr   HomoloGene and HGNC
ITIH4* Itih4   HomoloGene and HGNC
PPP1R17* Ppp1r17   HomoloGene and HGNC
References Disease References using Mouse Models (8)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.07
The Jackson Laboratory