hereditary spherocytosis type 1

Term ID

DOID:0110916

Synonyms

hereditary spherocytosis 1
HS1
SPH1

Definition

A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21. https://www.ncbi.nlm.nih.gov/pubmed/2675425

References

MIM:182900

Ontology

Human Disease ( DOID:0110916 )

Relationships

is a type of: autosomal dominant disease autosomal recessive disease hereditary spherocytosis

autosomal dominant disease autosomal recessive disease hereditary spherocytosis Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models