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Details
Link-It Detail - Human Phenotype - Abnormality of acid-base homeostasis
Debug Stats
  • ### Total Build Time: 54 ms 28.778 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 211 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 279 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • 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
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 458 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1.036 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.173 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=39 ms Completed: 39 ms rowSize= 24.469 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.030 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of acid-base homeostasis HP:0004360
Definition (1)
An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.
Parents (1)
img Abnormality of metabolism/homeostasis HP:0001939
Children (3)
img Bicarbonaturia HP:0003646
img Acidosis HP:0001941
img Alkalosis HP:0001948
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
Genes (244)

Species:
human : 244
Page Size
Current 25
  Page 1 of 10
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL2P21100415942Hypotonia-cystinuria syndrome
img HP RolledUp, OMIM ID: 606407
HumanSDHAF1644096succinate dehydrogenase complex assembly factor 1
img HP RolledUp, OMIM ID: 252011
HumanCOA5493753cytochrome c oxidase assembly factor 5
img HP RolledUp, OMIM ID: 220110
HumanBOLA3388962bolA family member 3
img HP RolledUp, OMIM ID: 614299
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
img HP RolledUp, OMIM ID: 256000
HumanMMAB326625methylmalonic aciduria (cobalamin deficiency) cblB type
img HP RolledUp, OMIM ID: 251110
HumanACSF3197322acyl-CoA synthetase family member 3
img HP RolledUp, OMIM ID: 614265
HumanMMAA166785methylmalonic aciduria (cobalamin deficiency) cblA type
img HP RolledUp, OMIM ID: 251100
HumanNDUFAF6137682NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
img HP RolledUp, OMIM ID: 256000
HumanGLYCTK132158glycerate kinase
img HP RolledUp, OMIM ID: 220120
HumanNDUFA11126328NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
img HP RolledUp, OMIM ID: 252010
HumanEARS2124454glutamyl-tRNA synthetase 2, mitochondrial
img HP RolledUp, OMIM ID: 614924
HumanMTFMT123263mitochondrial methionyl-tRNA formyltransferase
img HP RolledUp, OMIM ID: 614947
HumanNDUFAF291942NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
img HP RolledUp, OMIM ID: 252010
img HP RolledUp, OMIM ID: 256000
HumanATPAF291647ATP synthase mitochondrial F1 complex assembly factor 2
img HP RolledUp, OMIM ID: 604273
HumanC12orf6591574chromosome 12 open reading frame 65
img HP RolledUp, OMIM ID: 613559
HumanGFM185476G elongation factor, mitochondrial 1
img HP RolledUp, OMIM ID: 609060
HumanCOX1484987cytochrome c oxidase assembly homolog 14 (S. cerevisiae)
img HP RolledUp, OMIM ID: 220110
HumanSERAC184947serine active site containing 1
img HP RolledUp, OMIM ID: 614739
HumanMCEE84693methylmalonyl CoA epimerase
img HP RolledUp, OMIM ID: 251120
HumanMMDFS80767Multiple mitochondrial dysfunctions syndrome
img HP RolledUp, OMIM ID: 605711
HumanPUS180324pseudouridylate synthase 1
img HP RolledUp, OMIM ID: 600462
HumanNUBPL80224nucleotide binding protein-like
img HP RolledUp, OMIM ID: 252010
HumanNDUFAF579133NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
img HP RolledUp, OMIM ID: 252010
HumanWNK465266WNK lysine deficient protein kinase 4
img HP RolledUp, OMIM ID: 145260
img HP RolledUp, OMIM ID: 601844
img HP RolledUp, OMIM ID: 614491
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0004360Abnormality of acid-base homeostasis0self