Human Phenotype Ontology 
Grandparent Node:
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Abnormal cellular physiology (HP:0011017)help
Parent Node:
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Abnormality of the mitochondrion (HP:0012103)help
..Starting node
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Abnormality of mitochondrial metabolism (HP:0003287)help
Term ID: 3287
Name: Abnormality of mitochondrial metabolism
Synonym: Mitochondrial dysfunction
Definition: A functional anomaly of mitochondria.
Comments:
Reference: HP:0003287
Genes and Diseases:
 
       Child Nodes:
........expandDecreased activity of the pyruvate dehydrogenase complex (HP:0002928) help
........expandMitochondrial malic enzyme reduced (HP:0003232) help
........expandDecreased plasma carnitine (HP:0003234) help
................... HP:0008315 Decreased plasma free carnitine
................... HP:0011936 Decreased plasma total carnitine
........expandMitochondrial propionyl-CoA carboxylase defect (HP:0003288) help
........expandDeficiency or absence of cytochrome b(-245) (HP:0003514) help
........expand3-Methylglutaconic aciduria (HP:0003535) help
................... HP:0003344 3-Methylglutaric aciduria
........expandElectron transfer flavoprotein-ubiquinone oxidoreductase defect (HP:0003647) help
........expandMitochondrial lysine transport defect (HP:0008265) help
........expandAbnormal iron deposition in mitochondria (HP:0008306) help
........expandAbnormal mitochondria in muscle tissue (HP:0008316) help
........expandAbnormal activity of mitochondrial respiratory chain (HP:0011922) help
................... HP:0008972 Decreased activity of mitochondrial respiratory chain
................... HP:0040015 Increased activity of mitochondrial respiratory chain
........expandMitochondrial depletion (HP:0030059) help
........expandDecreased activity of 3-hydroxyacyl-CoA dehydrogenase (HP:0100950) help
........expandMitochondrial respiratory chain defects (HP:0200125) help

 Sister Nodes: 
..expandAbnormal mitochondrial morphology (HP:0008322) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0AK2 CL E G H20433355ORPHA11965362103020
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0DNMT1 CL E G H1786314404ORPHA1233172976126375
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM1239027302615316
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0003287Abnormality of mitochondrial metabolism1AK2 CL E G H20433355ORPHA11965362103020
HP:0003287HP:0003287Abnormality of mitochondrial metabolism1DNMT1 CL E G H1786314404ORPHA1233172976126375
HP:0003287HP:0003287Abnormality of mitochondrial metabolism1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM1239027302615316
HP:0003287HP:0003287Abnormality of mitochondrial metabolism1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0003287Abnormality of mitochondrial metabolism1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0003287Abnormality of mitochondrial metabolism1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0003287Abnormality of mitochondrial metabolism1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0003287Abnormality of mitochondrial metabolism1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0003287Abnormality of mitochondrial metabolism1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0003287Abnormality of mitochondrial metabolism1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0003287Abnormality of mitochondrial metabolism1MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0003287Abnormality of mitochondrial metabolism1MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0003287Abnormality of mitochondrial metabolism1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0003287Abnormality of mitochondrial metabolism1MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0003287Abnormality of mitochondrial metabolism1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0003287Abnormality of mitochondrial metabolism1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0003287Abnormality of mitochondrial metabolism1MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0003287Abnormality of mitochondrial metabolism2AK2 CL E G H20433355ORPHA11965362103020
HP:0003287HP:0003287Abnormality of mitochondrial metabolism2DNMT1 CL E G H1786314404ORPHA1233172976126375
HP:0003287HP:0003287Abnormality of mitochondrial metabolism2IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM1239027302615316
HP:0003287HP:0003287Abnormality of mitochondrial metabolism2MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0003287Abnormality of mitochondrial metabolism2MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0003287Abnormality of mitochondrial metabolism2MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0003287Abnormality of mitochondrial metabolism2MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0003287Abnormality of mitochondrial metabolism2MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0003287Abnormality of mitochondrial metabolism2MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0003287Abnormality of mitochondrial metabolism2MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0003287Abnormality of mitochondrial metabolism2MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0003287Abnormality of mitochondrial metabolism2MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0003287Abnormality of mitochondrial metabolism2MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0003287Abnormality of mitochondrial metabolism2MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0003287Abnormality of mitochondrial metabolism2MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0003287Abnormality of mitochondrial metabolism2MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0003287Abnormality of mitochondrial metabolism2MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0003287Abnormality of mitochondrial metabolism3AK2 CL E G H20433355ORPHA11965362103020
HP:0003287HP:0003287Abnormality of mitochondrial metabolism3DNMT1 CL E G H1786314404ORPHA1233172976126375
HP:0003287HP:0003287Abnormality of mitochondrial metabolism3IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM1239027302615316
HP:0003287HP:0003287Abnormality of mitochondrial metabolism3MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0003287Abnormality of mitochondrial metabolism3MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0003287Abnormality of mitochondrial metabolism3MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0003287Abnormality of mitochondrial metabolism3MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0003287Abnormality of mitochondrial metabolism3MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0003287Abnormality of mitochondrial metabolism3MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0003287Abnormality of mitochondrial metabolism3MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0003287Abnormality of mitochondrial metabolism3MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0003287Abnormality of mitochondrial metabolism3MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0003287Abnormality of mitochondrial metabolism3MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0003287Abnormality of mitochondrial metabolism3MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0003287Abnormality of mitochondrial metabolism3MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0003287Abnormality of mitochondrial metabolism3MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0003287Abnormality of mitochondrial metabolism3MT-TW CL E G H4578550ORPHA17501590095
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (144) :ACAD8 ACAD9 ACADL ACADM ACADVL AFG3L2 AGK AK2 ATAD3A ATP5F1D ATP5F1E ATP6 ATPAF2 AUH BOLA3 CAMKMT COX1 COX15 COX2 COX3 CPT2 CTNS CYBA CYBB CYTB DGUOK DLAT DLD DNAJC19 DNMT1 EARS2 ECHS1 ETFA ETFB ETFDH FBXL4 FOXRED1 FXN GFER GLRX5 HADH HADHA HMGCL HTRA2 IBA57 ISCU LIPT1 MICOS13 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTFMT MYH7 NADK2 ND1 ND2 ND3 ND4 ND4L ND5 ND6 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NFU1 NUBPL OPA3 PDHA1 PDHX PDP1 PET100 POLG PPM1B PREPL SDHA SDHAF1 SDHD SERAC1 SLC19A3 SLC22A5 SLC25A20 SLC25A26 SLC3A1 SUCLA2 SURF1 TACO1 TAZ TIMM50 TIMMDC1 TK2 TMEM126B TMEM70 TRMT5 TRMU TRNE TRNF TRNH TRNL1 TRNL2 TRNN TRNQ TRNS1 TRNS2 TRNW TSFM TTN TXN2

Diseases (78) :33355 550 314404 615330 611283 99901 99900 201450 201475 313772 212350 496790 618120 614053 104 604273 67046 250950 163693 255241 219800 233690 306400 245348 2394 66634 616277 231680 615471 2609 229300 401866 616859 71212 231530 609016 246450 617248 255125 67047 59135 431361 252010 256030 258501 312170 245349 608782 203700 252011 614739 212140 159 302060 617698 1194 614052 616539 254864 613070 663 611705 614299 608836 251880 610198 613076 616034 605711 612073 609560 617069 614924 468661 616794 610505 478029 616811
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.