# familial hypobetalipoproteinemia 1

> hypobetalipoproteinemia that has material basis in mutation in the APOB gene on chromosome 2p24

**Wikidata**: [Q32146694](https://www.wikidata.org/wiki/Q32146694)  
**Source**: https://4ort.xyz/entity/familial-hypobetalipoproteinemia-1


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/--2020-02-26T17:00:00)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/e7382aae-83d5-4a23-b1fe-e3d6acea8584--2020-02-26T17:00:00)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e7382aae-83d5-4a23-b1fe-e3d6acea8584-2020-02-26T170000.000Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000084674/MONDO_0014252)
8. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)