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X-linked severe congenital neutropenia
Summary
- Synonym
-
- SCNX
- XLN
- Definition
- A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23.
- Super Class
- X-linked recessive disease severe congenital neutropenia
External Links
- Disease Ontology
- DOID:0112128
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
