hereditary spherocytosis type 5

Summary

DOID:0110920 - hereditary spherocytosis type 5

Disease Ontology Definition:A hereditary spherocytosis that has_material_basis_in a mutation of the EPB42 gene on chromosome 15q15.2.

Synonyms: hereditary spherocytosis 5, HS5, SPH5

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

: epb42

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012985 - hereditary spherocytosis type 5

MONDO:0012985 - hereditary spherocytosis type 5

MIM:

MIM:612690 - SPHEROCYTOSIS, TYPE 5; SPH5

MIM:612690 - SPHEROCYTOSIS, TYPE 5; SPH5

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

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

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