Disease association ontology term - MONDO:0100198 - Mendelian encephalopathy
Term summary
ID
MONDO:0100198
Name
Mendelian encephalopathy
Ontology or CV name
Disease association
Definition
An instance of encephalopathy that is caused by an inherited genomic modification in an individual.
Parents
is_a
hereditary disease
Annotation
Disease association
MONDO:0044646
-
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
References:
PB_REF:0000006
Genes:
alp1 (SPBC11C11.04c)
MONDO:0013726
-
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
References:
PB_REF:0000006
Genes:
dnm1 (SPBC12C2.08)
vps1 (SPAC767.01c)
MONDO:0060562
-
encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
References:
PB_REF:0000006
Genes:
lip2 (SPAC4F10.05c)
MONDO:0958224
-
encephalopathy, porphyria-related
References:
PB_REF:0000006
Genes:
hem3 (SPAC24B11.13)
MONDO:0014960
-
encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
References:
PB_REF:0000003
Genes:
mug182 (SPAC15A10.05c)
MONDO:0020781
-
encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
References:
PB_REF:0000006
Genes:
mug182 (SPAC15A10.05c)
MONDO:0032681
-
encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
References:
PB_REF:0000006
Genes:
tca17 (SPAC15A10.12c)
MONDO:0014968
-
encephalopathy, progressive, with amyotrophy and optic atrophy
References:
PB_REF:0000006
Genes:
alp21 (SPAC22H10.10)
MONDO:0034121
-
NAD(P)HX dehydratase deficiency
References:
PB_REF:0000006
Genes:
nnr2 (SPCC61.03)
MONDO:0014402
-
severe neurodegenerative syndrome with lipodystrophy
References:
PB_REF:0000006
Genes:
sei1 (SPAC3A11.04)
