Disease #00141 (X-CGD (X-linked Chronic Granulomatous Disease), OMIM:306400)

Official abbreviation X-CGD
Name X-linked Chronic Granulomatous Disease
OMIM ID 306400
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 2 genes CYBB, NCF1
Associated tissues -
Disease features -
Remarks -


Individuals

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00000752 Harvindar Kaur Gill et al.(2013) M Malaysia Chinese - - - X-CGD Meningitis, BCG lymphadenitis, recurrence of lymphadenitis in the axillary lymph node CYBB CYBB 1 1 Nur Aisyah Athirah
00000753 Harvindar Kaur Gill et al.(2012) F Malaysia Malay - - - X-CGD She has meningococcaemia, retinitis pigmentosa in the right eye, and a protracted episode that included herpes simplex, cellulitis in her left foot which grew Chromobacterium violaceum, hepatitis, a gastrointestinal haemorrhage, septicaemia and oral candidiasis. She now also has discoid lupus erythematosus. NCF1 NCF1 1 1 Nur Aisyah Athirah
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