# hereditary spherocytosis type 2

> hereditary spherocytosis that has material basis in an autosomal dominant mutation of SPTB on chromosome 14q23.3

**Wikidata**: [Q32144717](https://www.wikidata.org/wiki/Q32144717)  
**Source**: https://4ort.xyz/entity/hereditary-spherocytosis-type-2


## References

1. Disease Ontology
2. UniProt
3. Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)
5. Monarch Disease Ontology release 2018-06-29