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Details
Link-It Detail - Human Phenotype - Abnormality of the mitochondrion
Debug Stats
  • ### Total Build Time: 28 ms 20.528 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 207 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 390 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 14 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 798 bytes
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  • CONCEPT_GENES gt=28 ms Completed: 28 ms rowSize= 16.389 KB
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  • Reload Stats
Human Phenotype (1)
Abnormality of the mitochondrion HP:0012103
Definition (1)
An anomaly of the `mitochondrion` (FMA:63835), the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The `mitochondrion` (GO:0005739) is a self replicating organelle that is the site of tissue respiration.
Parents (1)
img Abnormality of cell physiology HP:0011017
Children (2)
img Abnormal mitochondrial morphology HP:0008322
img Abnormality of mitochondrial metabolism HP:0003287
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of cell physiology HP:0011017
Genes (82)

Species:
human : 82
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL2P21100415942Hypotonia-cystinuria syndrome
img HP RolledUp, OMIM ID: 606407
HumanSDHAF1644096succinate dehydrogenase complex assembly factor 1
HumanBOLA3388962bolA family member 3
img HP RolledUp, OMIM ID: 614299
HumanDNAJC19131118DnaJ (Hsp40) homolog, subfamily C, member 19
HumanNDUFA11126328NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
HumanEARS2124454glutamyl-tRNA synthetase 2, mitochondrial
img HP RolledUp, OMIM ID: 614924
HumanNDUFAF291942NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
HumanATPAF291647ATP synthase mitochondrial F1 complex assembly factor 2
HumanSERAC184947serine active site containing 1
img HP RolledUp, OMIM ID: 614739
HumanMMDFS80767Multiple mitochondrial dysfunctions syndrome
img HP RolledUp, OMIM ID: 605711
HumanNUBPL80224nucleotide binding protein-like
HumanNDUFAF579133NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
HumanC10orf256652chromosome 10 open reading frame 2
HumanAGK55750acylglycerol kinase
HumanTRMU55687tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
img HP RolledUp, OMIM ID: 613070
HumanFOXRED155572FAD-dependent oxidoreductase domain containing 1
HumanTMEM7054968transmembrane protein 70
HumanPDP154704pyruvate dehyrogenase phosphatase catalytic subunit 1
HumanNDUFAF151103NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
HumanNDUFAF429078NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
HumanNFU127247NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)
img HP RolledUp, OMIM ID: 605711
HumanACAD827034acyl-CoA dehydrogenase family, member 8
img HP RolledUp, OMIM ID: 611283
HumanNDUFAF325915NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
HumanISCU23479iron-sulfur cluster assembly enzyme
HumanTSFM10102Ts translation elongation factor, mitochondrial
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0012103Abnormality of the mitochondrion0self