Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.43
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Expert list
Phenotypes
- Chronic granulomatous disease, autosomal, due to deficiency of CYBA 233690
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Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Early Onset Inflammatory Bowel Disease
- Chronic granulomatous disease, autosomal, due to deficiency of CYBA 233690
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Level 2: Viral research
Version 1.141
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- IUIS Classification February 2018
- London North GLH
- GOSH PID v.8.0
- NHS GMS
- GRID V2.0
- Victorian Clinical Genetics Services
- North West GLH
- ESID Registry 20171117
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
- GOSH PID v.8.0
Phenotypes
- Chronic granulomatous disease (CGD)
- Congenital defects of phagocyte number or function
- Infections, autoinflammatory phenotype
- Chronic granulomatous disease, autosomal, due to deficiency of CYBA,233690
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Version 4.201
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
- GOSH PID v.8.0
Phenotypes
- Chronic granulomatous disease, autosomal, due to deficiency of CYBA,233690
- Chronic granulomatous disease (CGD)
- Infections, autoinflammatory phenotype
- Congenital defects of phagocyte number or function
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Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690
|