hereditary spherocytosis type 1

Summary

DOID:0110916 - hereditary spherocytosis type 1

Disease Ontology Definition:A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21.

Synonyms: hereditary spherocytosis 1, HS1, SPH1

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ank1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008447 - hereditary spherocytosis type 1

MONDO:0008447 - hereditary spherocytosis type 1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), autosomal recessive disease (is_a), hereditary spherocytosis (is_a)