X-linked severe congenital neutropenia

Term ID

DOID:0112128

Synonyms

• SCNX
• XLN

Definition

A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23. https://pubmed.ncbi.nlm.nih.gov/11242115/

References

• GARD:3981
• MESH:C564539
• NCI:C176818
• OMIM:300299
• ORDO:86788
• SNOMEDCT_US_2023_03_01:718882006
• UMLS_CUI:C1845987

Ontology

Human Disease   ( DOID:0112128 )