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Metadata
ID DOID:0110918
Name hereditary spherocytosis type 3
Definition A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTA1 gene on chromosome 1q23.1.
https://www.ncbi.nlm.nih.gov/pubmed/8941647
Xrefs

MIM:270970

Synonyms

hereditary spherocytosis 3 [EXACT]

HS3 [EXACT]

SPH3 [EXACT]

Parent Relationships

is_a hereditary spherocytosis

is_a autosomal recessive disease

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