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DO Term : WHIM syndrome 1 [DOID:0060591] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:234571003,
  • warts-hypogammaglobulinemia-infections-myelokathexis syndrome,
  • warts, hypogammaglobulinemia, infections, and myelokathexis,
  • UMLS_CUI:C0472817,
  • GARD:9297,
  • 193670,
  • OMIM:193670,
  • NCI:C176819,
  • MESH:C536697,
  • WHIMS
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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