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Metadata
ID DOID:0110916
Name hereditary spherocytosis type 1
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
Xrefs

MIM:182900

Synonyms

hereditary spherocytosis 1 [EXACT]

HS1 [EXACT]

SPH1 [EXACT]

Parent Relationships

is_a hereditary spherocytosis

is_a autosomal recessive disease

is_a autosomal dominant disease

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