hereditary spherocytosis type 3

Term ID

DOID:0110918

Synonyms

• hereditary spherocytosis 3
• HS3
• SPH3

Definition

A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTA1 gene on chromosome 1q23.1. https://www.ncbi.nlm.nih.gov/pubmed/8941647

References

• OMIM:270970

Ontology

Human Disease   ( DOID:0110918 )