|
Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.4
|
review
|
Unknown
|
Sources
- Expert Review Red
- Literature
Phenotypes
- modification of hidradenitis suppurativa phenotype
|
|
Level 2: Viral research
Version 1.141
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- IUIS Classification February 2018
- London North GLH
- 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
Phenotypes
- Susceptibility to mycobacteria and Salmonella
- Immunodeficiency 30, 614891
- Defects with susceptibility to mycobacterial infection (MSMD)
- Defects in Intrinsic and Innate Immunity
|
|
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
Phenotypes
- Immunodeficiency 30, 614891
- Defects with susceptibility to mycobacterial infection (MSMD)
- Susceptibility to mycobacteria and Salmonella
- Defects in Intrinsic and Innate Immunity
|
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Immunodeficiency 30, 614891
|