# congenital generalized lipodystrophy type 4

> congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of PTRF on chromosome 17q21.2

**Wikidata**: [Q32147713](https://www.wikidata.org/wiki/Q32147713)  
**Source**: https://4ort.xyz/entity/congenital-generalized-lipodystrophy-type-4


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)