|  Help  |  About  |  Contact Us

DO Term : immunodeficiency 27B [DOID:0111956] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3.
  • synonyms:
  • autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency,
  • autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency,
  • autosomal dominant MSMD due to partial IFNgammaR1 deficiency,
  • autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,
  • OMIM:615978,
  • 615978,
  • IMD27B,
  • autosomal dominant IFNGR1 deficiency,
  • ORDO:319581,
  • autosomal dominant immunodeficiency 27B, mycobacteriosis
Paste the following link
Quick Links:
SummaryDiseaseOntology
 
Quick Links:
SummaryDiseaseOntology
 
Lists
This DOTerm isn't in any lists. Upload a list.

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





MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

Copyright © 2017 by The Jackson Laboratory. All Rights Reserved

© 2002 - 2017 Department of Genetics, University of Cambridge, Downing Street,
Cambridge CB2 3EH, United Kingdom