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DO Term : immunodeficiency 50 [DOID:0112001] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12.
  • synonyms:
  • CID due to Moesin deficiency,
  • IMD50,
  • 300988,
  • ORDO:504530,
  • X-linked Moesin-associated immunodeficiency,
  • MSN-related combined immunodeficiency,
  • immunodeficiency 50 X linked recessive,
  • OMIM:300988,
  • combined immunodeficiency due to Moesin deficiency
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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