Human Phenotype Ontology 
Grandparent Node:
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Abnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
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Abnormality of cell physiology (HP:0011017)help
..Starting node
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Abnormality of the mitochondrion (HP:0012103)help
Term ID: 12103
Name: Abnormality of the mitochondrion
Synonym: Mitochondrial abnormalities
Definition: An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.
Comments:
Reference: HP:0012103
Genes and Diseases:

 HPO-Disease-Gene Association for HP:0012103 and all of its descedant HPO terms  

InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameConceptIDSourceHGMD variantsClinVar variants
HP:0012103HP:0012103Abnormality of the mitochondrion0KCNJ103766199343EAST syndromeORPHA27121
HP:0012103HP:0012103Abnormality of the mitochondrion0PEX55830214110Peroxisome biogenesis disorder 2a (zellweger)C1859228OMIM1499
HP:0012103HP:0012103Abnormality of the mitochondrion0SLC25A3525091130Cardiomyopathy-hypotonia-lactic acidosis syndromeORPHA535
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1AK220433355Reticular dysgenesisORPHA1719
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1COX14512550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1COX24513550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1COX34514550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1IBA57200205615330Multiple mitochondrial dysfunctions syndrome 3C3809165OMIM1016
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ND14535550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ND44538550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ND54540550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1ND64541550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SDHD6392615106Cowden syndrome 3C3554516OMIM161129
HP:0012103HP:0008322Abnormal mitochondrial morphology1TAZ69013020603-Methylglutaconic aciduria type 2C0574083OMIM15087
HP:0012103HP:0008322Abnormal mitochondrial morphology1TAZ6901111Recurrent respiratory papillomatosisORPHA15087
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRNF4558550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRNH4564550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRNL14567550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRNQ4572550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRNS14574550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRNS24575550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TRNW4578550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0012103HP:0030059Mitochondrial depletion2
HP:0012103HP:0008265Mitochondrial lysine transport defect2
HP:0012103HP:0012102Abnormal mitochondrial number2
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2
HP:0012103HP:0003234Decreased plasma carnitine2ACAD827034611283Deficiency of isobutyryl-CoA dehydrogenaseC1969809OMIM2158
HP:0012103HP:0003234Decreased plasma carnitine2ACADM34201450Medium-chain acyl-coenzyme A dehydrogenase deficiencyC0220710OMIM168197
HP:0012103HP:0003234Decreased plasma carnitine2ACADVL37201475Very long chain acyl-CoA dehydrogenase deficiencyC0342784OMIM260200
HP:0012103HP:00035353-Methylglutaconic aciduria2AGK55750212350Cataract and cardiomyopathyC1859317OMIM1982
HP:0012103HP:00035353-Methylglutaconic aciduria2ATP5E514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3C3279708OMIM17
HP:0012103HP:0200125Mitochondrial respiratory chain defects2ATP64508104Ochoa syndromeC0403555ORPHA
HP:0012103HP:00035353-Methylglutaconic aciduria2ATPAF291647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1C2700431OMIM132
HP:0012103HP:00035353-Methylglutaconic aciduria2AUH5492509503-Methylglutaconic aciduriaC0342727OMIM1149
HP:0012103HP:00035353-Methylglutaconic aciduria2AUH549670463-methylglutaconic aciduria type 1ORPHA1149
HP:0012103HP:0200125Mitochondrial respiratory chain defects2CAMKMT798231636932p21 microdeletion syndromeORPHA1
HP:0012103HP:0200125Mitochondrial respiratory chain defects2COX14512104Ochoa syndromeC0403555ORPHA
HP:0012103HP:0200125Mitochondrial respiratory chain defects2COX34514104Ochoa syndromeC0403555ORPHA
HP:0012103HP:0003234Decreased plasma carnitine2CTNS1497219800Nephropathic cystinosisC0010690OMIM141178
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2CYBA1535233690Granulomatous disease, chronic, autosomal recessive, cytochrome b-negativeC1856255OMIM7127
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2CYBB1536306400Chronic granulomatous disease, X-linkedC1844376OMIM751111
HP:0012103HP:0200125Mitochondrial respiratory chain defects2CYTB4519104Ochoa syndromeC0403555ORPHA
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2ETFA2108231680Glutaric aciduria, type 2C0268596OMIM2837
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2ETFB2109231680Glutaric aciduria, type 2C0268596OMIM1327
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2ETFDH2110231680Glutaric aciduria, type 2C0268596OMIM16877
HP:0012103HP:0200125Mitochondrial respiratory chain defects2FBXL426235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)C3809592OMIM34384
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2FOXRED1555722609Isolated complex I deficiencyORPHA761
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2FOXRED155572252010Mitochondrial complex I deficiencyC1838979OMIM761
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2FXN2395229300Friedreich ataxia 1C1856689OMIM6518
HP:0012103HP:0100950Decreased activity of 3-hydroxyacyl-CoA dehydrogenase2HADHA3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyCN074230OMIM6899
HP:0012103HP:0003234Decreased plasma carnitine2HMGCL3155246450Deficiency of hydroxymethylglutaryl-CoA lyaseC0268601OMIM5135
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2ISCU23479255125Myopathy with lactic acidosis, hereditaryC1850718OMIM219
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2ND145352609Isolated complex I deficiencyORPHA
HP:0012103HP:0200125Mitochondrial respiratory chain defects2ND14535104Ochoa syndromeC0403555ORPHA
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2ND245362609Isolated complex I deficiencyORPHA
HP:0012103HP:0200125Mitochondrial respiratory chain defects2ND24536104Ochoa syndromeC0403555ORPHA
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2ND345372609Isolated complex I deficiencyORPHA
HP:0012103HP:0200125Mitochondrial respiratory chain defects2ND44538104Ochoa syndromeC0403555ORPHA
HP:0012103HP:0200125Mitochondrial respiratory chain defects2ND4L4539104Ochoa syndromeC0403555ORPHA
HP:0012103HP:0200125Mitochondrial respiratory chain defects2ND54540104Ochoa syndromeC0403555ORPHA
HP:0012103HP:0200125Mitochondrial respiratory chain defects2ND64541104Ochoa syndromeC0403555ORPHA
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFA146942609Isolated complex I deficiencyORPHA57
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFA14694252010Mitochondrial complex I deficiencyC1838979OMIM57
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFA111263282609Isolated complex I deficiencyORPHA132
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFA11126328252010Mitochondrial complex I deficiencyC1838979OMIM132
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFAF1511032609Isolated complex I deficiencyORPHA740
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFAF151103252010Mitochondrial complex I deficiencyC1838979OMIM740
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFAF2919422609Isolated complex I deficiencyORPHA826
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFAF291942252010Mitochondrial complex I deficiencyC1838979OMIM826
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFAF3259152609Isolated complex I deficiencyORPHA531
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFAF325915252010Mitochondrial complex I deficiencyC1838979OMIM531
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFAF4290782609Isolated complex I deficiencyORPHA250
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFAF429078252010Mitochondrial complex I deficiencyC1838979OMIM250
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFAF5791332609Isolated complex I deficiencyORPHA1034
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFAF579133252010Mitochondrial complex I deficiencyC1838979OMIM1034
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFB347092609Isolated complex I deficiencyORPHA29
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFB34709252010Mitochondrial complex I deficiencyC1838979OMIM29
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFB947152609Isolated complex I deficiencyORPHA216
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFB94715252010Mitochondrial complex I deficiencyC1838979OMIM216
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFS147192609Isolated complex I deficiencyORPHA1981
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFS14719252010Mitochondrial complex I deficiencyC1838979OMIM1981
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFS247202609Isolated complex I deficiencyORPHA2265
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFS24720252010Mitochondrial complex I deficiencyC1838979OMIM2265
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFS347222609Isolated complex I deficiencyORPHA322
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFS34722252010Mitochondrial complex I deficiencyC1838979OMIM322
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFS447242609Isolated complex I deficiencyORPHA1627
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFS44724252010Mitochondrial complex I deficiencyC1838979OMIM1627
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFS647262609Isolated complex I deficiencyORPHA421
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFS64726252010Mitochondrial complex I deficiencyC1838979OMIM421
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFS73742912609Isolated complex I deficiencyORPHA838
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFS847282609Isolated complex I deficiencyORPHA1242
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFV147232609Isolated complex I deficiencyORPHA3274
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFV14723252010Mitochondrial complex I deficiencyC1838979OMIM3274
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFV247292609Isolated complex I deficiencyORPHA427
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NDUFV24729252010Mitochondrial complex I deficiencyC1838979OMIM427
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NUBPL802242609Isolated complex I deficiencyORPHA989
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2NUBPL80224252010Mitochondrial complex I deficiencyC1838979OMIM989
HP:0012103HP:00035353-Methylglutaconic aciduria2OPA3802072585013-Methylglutaconic aciduria type 3C0574084OMIM15163
HP:0012103HP:00035353-Methylglutaconic aciduria2OPA380207670473-methylglutaconic aciduria type 3ORPHA15163
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2PDHA15160312170Pyruvate dehydrogenase E1-alpha deficiencyC1839414OMIM16888
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2PDHX8050245349Pyruvate dehydrogenase E3-binding protein deficiencyC1855553OMIM2298
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2PDP154704608782Pyruvate dehydrogenase phosphatase deficiencyC1837429OMIM252
HP:0012103HP:00035353-Methylglutaconic aciduria2POLG5428203700Progressive sclerosing poliodystrophyC0205710OMIM277464
HP:0012103HP:0200125Mitochondrial respiratory chain defects2PPM1B54951636932p21 microdeletion syndromeORPHA
HP:0012103HP:0200125Mitochondrial respiratory chain defects2PREPL95811636932p21 microdeletion syndromeORPHA87
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2SDHA6389252011Mitochondrial complex II deficiencyC1855008OMIM44304
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2SDHAF1644096252011Mitochondrial complex II deficiencyC1855008OMIM616
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2SDHD6392252011Mitochondrial complex II deficiencyC1855008OMIM161129
HP:0012103HP:00035353-Methylglutaconic aciduria2SERAC1849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndromeC3553597OMIM2347
HP:0012103HP:0003234Decreased plasma carnitine2SLC22A56584212140Renal carnitine transport defectC0342788OMIM121207
HP:0012103HP:0012087Abnormal mitochondrial shape2SLC25A35250610773Mitochondrial phosphate carrier deficiencyC1835845OMIM535
HP:0012103HP:0200125Mitochondrial respiratory chain defects2SLC3A165191636932p21 microdeletion syndromeORPHA17755
HP:0012103HP:00035353-Methylglutaconic aciduria2TAZ69013020603-Methylglutaconic aciduria type 2C0574083OMIM15087
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2TMEM126B558632609Isolated complex I deficiencyORPHA44
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2TMEM126B55863252010Mitochondrial complex I deficiencyC1838979OMIM44
HP:0012103HP:00035353-Methylglutaconic aciduria2TMEM7054968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2C3279699OMIM1863
HP:0012103HP:00035353-Methylglutaconic aciduria2TMEM70549681194TMEM70-related mitochondrial encephalo-cardio-myopathyORPHA1863
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2TRMT557570616539Combined oxidative phosphorylation deficiency 26C4225290OMIM34
HP:0012103HP:0200125Mitochondrial respiratory chain defects2TRMU55687613070Liver failure acute infantileC2751567OMIM16101
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3
HP:0012103HP:0040013Decreased mitochondrial number3
HP:0012103HP:0040014Increased mitochondrial number3
HP:0012103HP:0030774Mitochondrial swelling3
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3BOLA3388962614299Multiple mitochondrial dysfunctions syndrome 2C3280378OMIM514
HP:0012103HP:0011936Decreased plasma total carnitine3CPT21376608836Carnitine palmitoyltransferase II deficiency, lethal neonatalC1833518OMIM104101
HP:0012103HP:0008315Decreased plasma free carnitine3CPT21376608836Carnitine palmitoyltransferase II deficiency, lethal neonatalC1833518OMIM104101
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3DGUOK1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebralC3151513OMIM6057
HP:0012103HP:00033443-Methylglutaric aciduria3DNAJC191311186101983-methylglutaconic aciduria type VC1857776OMIM325
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3GFER2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delayC2751320OMIM514
HP:0012103HP:00033443-Methylglutaric aciduria3HMGCL3155246450Deficiency of hydroxymethylglutaryl-CoA lyaseC0268601OMIM5135
HP:0012103HP:0008315Decreased plasma free carnitine3NADK21336866160342,4-Dienoyl-CoA reductase deficiencyC1857252OMIM214
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3NFU127247605711Multiple mitochondrial dysfunctions syndrome 1C1854052OMIM1334
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3SUCLA28803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)C2749864OMIM2766
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3TK27084609560Mitochondrial DNA depletion syndrome 2C3149750OMIM44103
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4ATP5E514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3C3279708OMIM17
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4EARS2124454614924Combined oxidative phosphorylation deficiency 12C3554079OMIM2780
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4EARS2124454614924Combined oxidative phosphorylation deficiency 12C3554079OMIM2780
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4EARS2124454614924Combined oxidative phosphorylation deficiency 12C3554079OMIM2780
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4ISCU23479255125Myopathy with lactic acidosis, hereditaryC1850718OMIM219
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4ISCU23479255125Myopathy with lactic acidosis, hereditaryC1850718OMIM219
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4ISCU23479255125Myopathy with lactic acidosis, hereditaryC1850718OMIM219
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4SDHA6389252011Mitochondrial complex II deficiencyC1855008OMIM44304
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4SDHAF1644096252011Mitochondrial complex II deficiencyC1855008OMIM616
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4SDHD6392252011Mitochondrial complex II deficiencyC1855008OMIM161129
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4TSFM10102610505Combined oxidative phosphorylation deficiency 3C1864840OMIM743
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4TSFM10102610505Combined oxidative phosphorylation deficiency 3C1864840OMIM743
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4TSFM10102610505Combined oxidative phosphorylation deficiency 3C1864840OMIM743
Note: The variant numbers are the total numbers per gene, not limited to the listed diseases or phenotypes.

Genes (92) :ACAD8 ACADM ACADVL AGK AK2 ATP5E ATP6 ATPAF2 AUH BOLA3 CAMKMT COX1 COX2 COX3 CPT2 CTNS CYBA CYBB CYTB DGUOK DNAJC19 EARS2 ETFA ETFB ETFDH FBXL4 FOXRED1 FXN GFER HADHA HMGCL IBA57 ISCU KCNJ10 NADK2 ND1 ND2 ND3 ND4 ND4L ND5 ND6 NDUFA1 NDUFA11 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFU1 NUBPL OPA3 PDHA1 PDHX PDP1 PEX5 POLG PPM1B PREPL SDHA SDHAF1 SDHD SERAC1 SLC22A5 SLC25A3 SLC3A1 SUCLA2 TAZ TK2 TMEM126B TMEM70 TRMT5 TRMU TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TSFM

Diseases (55) :199343 214110 91130 33355 550 615330 615106 302060 111 611283 201450 201475 212350 614053 104 604273 250950 67046 163693 219800 233690 306400 231680 615471 2609 252010 229300 609016 246450 255125 258501 67047 312170 245349 608782 203700 252011 614739 212140 610773 614052 1194 616539 613070 614299 608836 251880 610198 613076 616034 605711 612073 609560 614924 610505
 
       Child Nodes:
........expandAbnormality of mitochondrial metabolism (HP:0003287) help
................... HP:0002928 Decreased activity of the pyruvate dehydrogenase complex
................... HP:0003232 Mitochondrial malic enzyme reduced
................... HP:0003234 Decreased plasma carnitine
................... HP:0003288 Mitochondrial propionyl-CoA carboxylase defect
................... HP:0003514 Deficiency or absence of cytochrome b(-245)
................... HP:0003535 3-Methylglutaconic aciduria
................... HP:0003647 Electron transfer flavoprotein-ubiquinone oxidoreductase defect
................... HP:0008265 Mitochondrial lysine transport defect
................... HP:0008306 Abnormal iron deposition in mitochondria
................... HP:0008316 Abnormal mitochondria in muscle tissue
................... HP:0011922 Abnormal activity of mitochondrial respiratory chain
................... HP:0030059 Mitochondrial depletion
................... HP:0100950 Long chain 3 hydroxyacyl coA dehydrogenase deficiency
................... HP:0200125 Mitochondrial respiratory chain defects
........expandAbnormal mitochondrial morphology (HP:0008322) help
................... HP:0012087 Abnormal mitochondrial shape
................... HP:0012102 Abnormal mitochondrial number

 Sister Nodes: 
..expandAbnormality of B cell physiology (HP:0005372) help
..expandAbnormality of chromosome condensation (HP:0011019) help
..expandAbnormality of chromosome segregation (HP:0002916) help
..expandAbnormality of chromosome stability (HP:0003220) help
..expandAbnormality of DNA repair (HP:0003254) help
..expandAbnormality of lysosomal metabolism (HP:0004356) help
..expandAbnormality of T cell physiology (HP:0011840) help
..expandAbnormality of the cell cycle (HP:0011018) help
..expandIncreased cellular sensitivity to UV light (HP:0003224) help
..expandIncreased sensitivity to ionizing radiation (HP:0011133) help
..expandIntracellular accumulation of autofluorescent lipopigment storage material (HP:0003204) help
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is Feb. 201702 release.