Search Ontology:
Human Disease
hereditary spherocytosis type 1
- Term ID
- DOID:0110916
- Synonyms
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- hereditary spherocytosis 1
- HS1
- SPH1
- 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
- References
- Ontology
- Human Disease ( DOID:0110916 )
- is a type of
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