hereditary spherocytosis type 2

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Summary

Literature (0)

DOID:0110917 - hereditary spherocytosis type 2

Disease Ontology Definition:A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3.

Synonyms: HS2, SPH2, hereditary spherocytosis 2,

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

: sptb

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0000913 - hereditary spherocytosis type 2

MONDO:0000913 - hereditary spherocytosis type 2

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

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

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