Disease association ontology term - MONDO:0016801 - mitochondrial substrate carrier disorder
Term summary
ID
MONDO:0016801
Name
mitochondrial substrate carrier disorder
Ontology or CV name
Disease association
Parents
is_a
mitochondrial membrane transport disorder
Annotation
Disease association
MONDO:0012557
-
cardiomyopathy-hypotonia-lactic acidosis syndrome
References:
PB_REF:0000006
Genes:
mir1 (SPBC1703.13c)
MONDO:0014775
-
combined oxidative phosphorylation deficiency 28
References:
PB_REF:0000006
Genes:
pet801 (SPAC12B10.09)
pet802 (SPBC1271.11)
MONDO:0008922
-
Sengers syndrome
References:
PB_REF:0000006
Genes:
tim54 (SPBC1347.04)
MONDO:0014804
-
sideroblastic anemia 3
References:
PB_REF:0000006
Genes:
grx5 (SPAPB2B4.02)
