Human Phenotype Ontology 
Grandparent Node:
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Abnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
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Abnormal cellular 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:
 
       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 Decreased activity of 3-hydroxyacyl-CoA dehydrogenase
................... 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
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0012103HP:0012103Abnormality of the mitochondrion0GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA122239223657603824
HP:0012103HP:0012103Abnormality of the mitochondrion0KCNJ10 CL E G H3766199343ORPHA1331706256602208
HP:0012103HP:0012103Abnormality of the mitochondrion0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM1141969719600414
HP:0012103HP:0012103Abnormality of the mitochondrion0POLG CL E G H5428254892ORPHA130010159179174763
HP:0012103HP:0012103Abnormality of the mitochondrion0POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA130010159179174763
HP:0012103HP:0012103Abnormality of the mitochondrion0POLG2 CL E G H11232254892ORPHA114819180604983
HP:0012103HP:0012103Abnormality of the mitochondrion0RRM2B CL E G H50484254892ORPHA14318117296604712
HP:0012103HP:0012103Abnormality of the mitochondrion0RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA14318117296604712
HP:0012103HP:0012103Abnormality of the mitochondrion0SLC25A3 CL E G H525091130ORPHA156010989600370
HP:0012103HP:0012103Abnormality of the mitochondrion0SLC25A4 CL E G H291254892ORPHA11718910990103220
HP:0012103HP:0012103Abnormality of the mitochondrion0TWNK CL E G H56652254892ORPHA1831481160606075
HP:0012103HP:0012103Abnormality of the mitochondrion0TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA1952943148131222
HP:0012103HP:0012103Abnormality of the mitochondrion1GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA122239223657603824
HP:0012103HP:0012103Abnormality of the mitochondrion1KCNJ10 CL E G H3766199343ORPHA1331706256602208
HP:0012103HP:0012103Abnormality of the mitochondrion1PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM1141969719600414
HP:0012103HP:0012103Abnormality of the mitochondrion1POLG CL E G H5428254892ORPHA130010159179174763
HP:0012103HP:0012103Abnormality of the mitochondrion1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA130010159179174763
HP:0012103HP:0012103Abnormality of the mitochondrion1POLG2 CL E G H11232254892ORPHA114819180604983
HP:0012103HP:0012103Abnormality of the mitochondrion1RRM2B CL E G H50484254892ORPHA14318117296604712
HP:0012103HP:0012103Abnormality of the mitochondrion1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA14318117296604712
HP:0012103HP:0012103Abnormality of the mitochondrion1SLC25A3 CL E G H525091130ORPHA156010989600370
HP:0012103HP:0012103Abnormality of the mitochondrion1SLC25A4 CL E G H291254892ORPHA11718910990103220
HP:0012103HP:0012103Abnormality of the mitochondrion1TWNK CL E G H56652254892ORPHA1831481160606075
HP:0012103HP:0012103Abnormality of the mitochondrion1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA1952943148131222
HP:0012103HP:0012103Abnormality of the mitochondrion2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA122239223657603824
HP:0012103HP:0012103Abnormality of the mitochondrion2KCNJ10 CL E G H3766199343ORPHA1331706256602208
HP:0012103HP:0012103Abnormality of the mitochondrion2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM1141969719600414
HP:0012103HP:0012103Abnormality of the mitochondrion2POLG CL E G H5428254892ORPHA130010159179174763
HP:0012103HP:0012103Abnormality of the mitochondrion2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA130010159179174763
HP:0012103HP:0012103Abnormality of the mitochondrion2POLG2 CL E G H11232254892ORPHA114819180604983
HP:0012103HP:0012103Abnormality of the mitochondrion2RRM2B CL E G H50484254892ORPHA14318117296604712
HP:0012103HP:0012103Abnormality of the mitochondrion2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA14318117296604712
HP:0012103HP:0012103Abnormality of the mitochondrion2SLC25A3 CL E G H525091130ORPHA156010989600370
HP:0012103HP:0012103Abnormality of the mitochondrion2SLC25A4 CL E G H291254892ORPHA11718910990103220
HP:0012103HP:0012103Abnormality of the mitochondrion2TWNK CL E G H56652254892ORPHA1831481160606075
HP:0012103HP:0012103Abnormality of the mitochondrion2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA1952943148131222
HP:0012103HP:0012103Abnormality of the mitochondrion3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA122239223657603824
HP:0012103HP:0012103Abnormality of the mitochondrion3KCNJ10 CL E G H3766199343ORPHA1331706256602208
HP:0012103HP:0012103Abnormality of the mitochondrion3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM1141969719600414
HP:0012103HP:0012103Abnormality of the mitochondrion3POLG CL E G H5428254892ORPHA130010159179174763
HP:0012103HP:0012103Abnormality of the mitochondrion3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA130010159179174763
HP:0012103HP:0012103Abnormality of the mitochondrion3POLG2 CL E G H11232254892ORPHA114819180604983
HP:0012103HP:0012103Abnormality of the mitochondrion3RRM2B CL E G H50484254892ORPHA14318117296604712
HP:0012103HP:0012103Abnormality of the mitochondrion3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA14318117296604712
HP:0012103HP:0012103Abnormality of the mitochondrion3SLC25A3 CL E G H525091130ORPHA156010989600370
HP:0012103HP:0012103Abnormality of the mitochondrion3SLC25A4 CL E G H291254892ORPHA11718910990103220
HP:0012103HP:0012103Abnormality of the mitochondrion3TWNK CL E G H56652254892ORPHA1831481160606075
HP:0012103HP:0012103Abnormality of the mitochondrion3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA1952943148131222
HP:0012103HP:0012103Abnormality of the mitochondrion4GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA122239223657603824
HP:0012103HP:0012103Abnormality of the mitochondrion4KCNJ10 CL E G H3766199343ORPHA1331706256602208
HP:0012103HP:0012103Abnormality of the mitochondrion4PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM1141969719600414
HP:0012103HP:0012103Abnormality of the mitochondrion4POLG CL E G H5428254892ORPHA130010159179174763
HP:0012103HP:0012103Abnormality of the mitochondrion4POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA130010159179174763
HP:0012103HP:0012103Abnormality of the mitochondrion4POLG2 CL E G H11232254892ORPHA114819180604983
HP:0012103HP:0012103Abnormality of the mitochondrion4RRM2B CL E G H50484254892ORPHA14318117296604712
HP:0012103HP:0012103Abnormality of the mitochondrion4RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA14318117296604712
HP:0012103HP:0012103Abnormality of the mitochondrion4SLC25A3 CL E G H525091130ORPHA156010989600370
HP:0012103HP:0012103Abnormality of the mitochondrion4SLC25A4 CL E G H291254892ORPHA11718910990103220
HP:0012103HP:0012103Abnormality of the mitochondrion4TWNK CL E G H56652254892ORPHA1831481160606075
HP:0012103HP:0012103Abnormality of the mitochondrion4TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA1952943148131222
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (152) :ACAD8 ACAD9 ACADL ACADM ACADVL AFG3L2 AGK AK2 ATAD3A ATP5F1D ATP5F1E ATP6 ATPAF2 AUH BOLA3 C9ORF72 CAMKMT CHCHD10 COX1 COX15 COX2 COX3 CPT2 CTNS CYBA CYBB CYTB DGUOK DLAT DLD DNA2 DNAJC19 DNMT1 EARS2 ECHS1 ETFA ETFB ETFDH FBXL4 FOXRED1 FUS FXN GFER GLRX5 GNE GYG1 HADH HADHA HMGCL HSD17B10 HTRA2 IBA57 ISCU KCNJ10 LIPT1 MGME1 MICOS13 MTFMT MYH14 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 PEX5 POLG POLG2 PPM1B PREPL RRM2B SDHA SDHAF1 SDHD SERAC1 SLC19A3 SLC22A5 SLC25A20 SLC25A26 SLC25A3 SLC25A4 SLC3A1 SPG7 SQSTM1 SUCLA2 SURF1 TACO1 TARDBP TAZ TBK1 TIMM50 TIMMDC1 TK2 TMEM126B TMEM70 TRMT5 TRMU TRNE TRNF TRNH TRNL1 TRNL2 TRNN TRNQ TRNS1 TRNS2 TRNW TSFM TTN TWNK TXN2 TYMP VCP

Diseases (94) :3166 199343 214110 254892 298 91130 33355 275872 550 314404 300438 615330 99013 302060 111 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 610773 617698 1194 614052 616539 254864 613070 663 611705 614299 457050 608836 251880 352470 610198 613076 263297 352447 397744 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.