MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
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expanddefective phagocytic cell engulfment (MONDO:0024626)
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expanddisease of catalytic activity (MONDO:0044976)
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expanddisease of macromolecular complex (MONDO:0044971)
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expandfunctional neutrophil defect (MONDO:0015978)
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expandimmune deficiency with skin involvement (MONDO:0019305)
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expandinflammatory bowel disease (MONDO:0005265)
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expandmetabolic disease with intestinal involvement (MONDO:0015188)
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expandphagocyte bactericidal dysfunction (MONDO:0005910)
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expandsecondary interstitial lung disease specific to childhood associated with a granulomatous disease (MONDO:0017023)
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expandsystemic diseases with anterior uveitis (MONDO:0017259)
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expandsystemic diseases with panuveitis (MONDO:0017261)
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expandsystemic diseases with posterior uveitis (MONDO:0017260)
..Starting node
..expandchronic granulomatous disease ()

       Child Nodes:
........expandgranulomatous disease with defect in neutrophil chemotaxis ()
........expandgranulomatous disease, chronic, autosomal dominant type ()
........expandgranulomatous disease, chronic, autosomal recessive, cytochrome b-negative ()  LSDB  L: 00653;
........expandgranulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 ()  LSDB  L: 00644;
........expandgranulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ()  LSDB  L: 00645;
........expandgranulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 ()  LSDB  L: 00654;
........expandgranulomatous disease, chronic, X-linked ()



 Sister Nodes: 
..expandBehcet disease ()
..expandchronic granulomatous disease ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18305
Name:chronic granulomatous disease
Definition:Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.
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Synonyms:Bridges-Good syndrome; CGD; chronic septic granulomatosis; congenital dysphagocytosis; granulomatous disease, chronic; Quie syndrome
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Reference: MedGen:
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MSeqDR LSDB:  
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Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal