Disease association ontology term - MONDO:0957408 - type 1 interferonopathy of childhood
Term summary
ID
MONDO:0957408
Name
type 1 interferonopathy of childhood
Ontology or CV name
Disease association
Definition
A type 1 interferonopathy that occurs during childhood.
Parents
is_a
type 1 interferonopathy
is_a
autoinflammatory syndrome of childhood
Annotation
Disease association
MONDO:0012429
-
Aicardi-Goutieres syndrome 2
References:
PB_REF:0000006
Genes:
rnh202 (SPBC1347.08c)
MONDO:0012471
-
Aicardi-Goutieres syndrome 3
References:
PB_REF:0000006
Genes:
rnh203 (SPAC12B10.15c)
MONDO:0012472
-
Aicardi-Goutieres syndrome 4
References:
PB_REF:0000006
Genes:
rnh201 (SPAC4G9.02)
MONDO:0014007
-
Aicardi-Goutieres syndrome 6
References:
PB_REF:0000006
Genes:
tad1 (SPBC16A3.06)
MONDO:0700391
-
autoinflammation and autoimmunity with immune dysregulation 1
References:
PB_REF:0000006
Genes:
cop1 (SPBPJ4664.04)
MONDO:0054698
-
proteasome-associated autoinflammatory syndrome 1
References:
PB_REF:0000006
Genes:
pts1 (SPAC4A8.13c)
MONDO:0054700
-
proteasome-associated autoinflammatory syndrome 2
References:
PB_REF:0000006
Genes:
ump1 (SPCC14G10.03c)
MONDO:0054699
-
proteasome-associated autoinflammatory syndrome 3
References:
PB_REF:0000006
Genes:
pre4 (SPBC577.10)
MONDO:0968983
-
proteasome-associated autoinflammatory syndrome 6
References:
PB_REF:0000006
Genes:
pre3 (SPBC4C3.10c)
MONDO:0009105
-
trichohepatoenteric syndrome
References:
PMID:28204585
Genes:
ski2 (SPCC550.03c)
ski3 (SPCC1919.05)
MONDO:0024541
-
trichohepatoenteric syndrome 1
References:
PB_REF:0000006
Genes:
ski3 (SPCC1919.05)
MONDO:0013818
-
trichohepatoenteric syndrome 2
References:
PB_REF:0000006
Genes:
ski2 (SPCC550.03c)
MONDO:0010523
-
X-linked reticulate pigmentary disorder
References:
PB_REF:0000006
Genes:
pol1 (SPAC3H5.06c)
