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Metadata
ID DOID:0110920
Name hereditary spherocytosis type 5
Definition A hereditary spherocytosis that has_material_basis_in a mutation of the EPB42 gene on chromosome 15q15.2.
https://www.ncbi.nlm.nih.gov/pubmed/1558976
Xrefs

OMIM:612690

Synonyms

hereditary spherocytosis 5 [EXACT]

HS5 [EXACT]

SPH5 [EXACT]

Parent Relationships

is_a hereditary spherocytosis

is_a autosomal recessive disease

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