FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked severe congenital neutropenia ID (Ontology) DOID:0112128 (Human Disease)
Definition A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23.
Also Known As "SCNX" ; "XLN"
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 Genes
 X-linked severe congenital neutropenia       1
 for disease ribbon | X-linked severe congenital neutropenia       1
 model of | X-linked severe congenital neutropenia       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease_____
physical disorder                  |
 |__severe congenital neutropenia__|
neutropenia                        |
 |__severe congenital neutropenia__|
                                   X-linked severe congenital neutropenia  1 rec.
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Is a severe congenital neutropenia
X-linked recessive disease
Part of
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Synonyms
  • "SCNX" EXACT OMO:0003012
    "XLN" EXACT OMO:0003012
Secondary IDs
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GARD:3981
MESH:C564539
MIM:300299
NCI:C176818
ORDO:86788
SNOMEDCT_US_2023_03_01:718882006
UMLS_CUI:C1845987