# autosomal recessive hypercholesterolemia

> familial hypercholesterolemia characterized by autosomal inheritance that has material basis in homozygous mutation in the LDLRAP1 gene on chromosome 1p36

**Wikidata**: [Q30988959](https://www.wikidata.org/wiki/Q30988959)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-hypercholesterolemia


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. The Familial Hypercholesterolaemia Regression Study Group
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)