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DO Term : X-linked severe congenital neutropenia [DOID:0112128] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23.
  • synonyms:
  • UMLS_CUI:C1845987,
  • SCNX,
  • GARD:3981,
  • MESH:C564539,
  • NCI:C176818,
  • XLN,
  • OMIM:300299,
  • ORDO:86788,
  • 300299,
  • SNOMEDCT_US_2023_03_01:718882006
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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