Human Phenotype Ontology 
Grandparent Node:
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Abnormal activity of mitochondrial respiratory chain (HP:0011922)help
Parent Node:
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Decreased activity of mitochondrial respiratory chain (HP:0008972)help
..Starting node
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Decreased activity of mitochondrial complex II (HP:0008314)help
Term ID: 8314
Name: Decreased activity of mitochondrial complex II
Synonym: Respiratory complex II deficiency
Definition: A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria.
Comments:
Reference: HP:0008314
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDecreased activity of mitochondrial ATP synthase complex (HP:0011925) help
..expandDecreased activity of mitochondrial complex I (HP:0011923) help
..expandDecreased activity of mitochondrial complex III (HP:0011924) help
..expandDecreased activity of mitochondrial complex IV (HP:0008347) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008314HP:0008314Decreased activity of mitochondrial complex II0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia14
HP:0008314HP:0008314Decreased activity of mitochondrial complex II0CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant11
HP:0008314HP:0008314Decreased activity of mitochondrial complex II0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 74HP:0040282 - Frequent16
HP:0008314HP:0008314Decreased activity of mitochondrial complex II0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type.19
HP:0008314HP:0008314Decreased activity of mitochondrial complex II0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0008314HP:0008314Decreased activity of mitochondrial complex II0MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0008314HP:0008314Decreased activity of mitochondrial complex II0NFS1 CL E G H905415910OMIM:619386COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD525
HP:0008314HP:0008314Decreased activity of mitochondrial complex II0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0008314HP:0008314Decreased activity of mitochondrial complex II0SDHA CL E G H638910680OMIM:613642Cardiomyopathy, dilated, 1gg304
HP:0008314HP:0008314Decreased activity of mitochondrial complex II0SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency.304
HP:0008314HP:0008314Decreased activity of mitochondrial complex II0SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
HP:0008314HP:0008314Decreased activity of mitochondrial complex II0SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0008314HP:0008314Decreased activity of mitochondrial complex II0SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDGHP:0040283 - Occasional11


Genes (12) :BOLA3 CHCHD10 IBA57 ISCU MECR MIEF2 NFS1 NFU1 SDHA SDHB SDHD SLC39A8

Diseases (13) :OMIM:614299 OMIM:616209 ORPHA:468661 OMIM:255125 ORPHA:508093 OMIM:619024 OMIM:619386 OMIM:605711 OMIM:613642 OMIM:252011 OMIM:619224 OMIM:619167 ORPHA:468699
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.