# congenital generalized lipodystrophy type 3

> congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of CAV1 on chromosome 7q31.2

**Wikidata**: [Q32147698](https://www.wikidata.org/wiki/Q32147698)  
**Source**: https://4ort.xyz/entity/congenital-generalized-lipodystrophy-type-3


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)