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Phenotypic Abnormality (PA): Abnormality of acid-base homeostasis

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Root: HP Hierarchy (human phenotype with 3 sub-ontologies PA, MI, ON)

Shortest distance to current term (+ for parents, - for children) HP term [HP ID] <#Children> (#SF|#FA) #Supra-domain
(Single|Duplex|Triple)
+ + + 3:   Phenotypic abnormality [HP:0000118] <25>
+ + 2:   Abnormality of metabolism/homeostasis [HP:0001939] <16>(75|82) (79|39|16)
+ 1:   Abnormal homeostasis [HP:0012337] <8>(44|47) (44|21|8)
0:   Abnormality of acid-base homeostasis [HP:0004360] <7>(19|16) (19|7|2)
- 1:   Acidosis [HP:0001941] <8>(13|12) (13|5|2)
- 1:   Acidemia [HP:0032368] <5>(0|0) (0|0|0)
- 1:   Alkalosis [HP:0001948] <4>(2|2) (2|1|0)
- 1:   Abnormal serum anion gap [HP:0031961] <2>(0|0) (0|0|0)
- 1:   Abnormal serum bicarbonate concentration [HP:0032065] <2>(0|0) (0|0|0)
- 1:   Abnormal base excess [HP:0032281](0|0) (0|0|0)
- 1:   Alkalemia [HP:0032369](0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Class II aaRS and biotin synthetases0.000006149Direct
Glutathione synthetase ATP-binding domain-like0.00001507Direct
PreATP-grasp domain0.00001634Direct
Single hybrid motif0.00001634Direct
Thiamin diphosphate-binding fold (THDP-binding)0.00004125Direct
Nucleotidylyl transferase0.00005796Direct
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.0001101Direct
ClpP/crotonase0.0004535Direct
4Fe-4S ferredoxins0.0007294Direct
Terpenoid synthases0.0007294Direct
Rudiment single hybrid motif0.0007294Direct
Adenine nucleotide alpha hydrolases-like0.0009724Direct
Mitochondrial carrier0.006329Inherited
Translation proteins0.01457Inherited
Acyl-CoA dehydrogenase C-terminal domain-like0.01481Inherited
Acyl-CoA dehydrogenase NM domain-like0.01481Inherited
Voltage-gated potassium channels0.3712Inherited
E set domains0.5633Inherited


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Family

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SCOP termFDR (all)Annotation (direct or inherited)
HCDH C-domain-like0Direct
Class I aminoacyl-tRNA synthetases (RS), catalytic domain0.000003543Direct
BC ATP-binding domain-like0.000003886Direct
BC N-terminal domain-like0.000003886Direct
Biotinyl/lipoyl-carrier proteins and domains0.000009146Direct
Crotonase-like0.0002092Direct
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.0004218Direct
Branched-chain alpha-keto acid dehydrogenase Pyr module0.0004307Direct
Branched-chain alpha-keto acid dehydrogenase PP module0.0004307Direct
BC C-terminal domain-like0.0004307Direct
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.0005414Direct
Mitochondrial carrier0.003855Inherited
Cytoplasmic domain of inward rectifier potassium channel0.007334Inherited
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain0.009689Inherited
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains0.009689Inherited
Voltage-gated potassium channels0.2927Inherited


Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
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Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Supra-domain (including individual superfamily)

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Supra-domain (Single) FDR (all) Annotation (direct or inherited)
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Class II aaRS and biotin synthetases0.000002556Direct
Glutathione synthetase ATP-binding domain-like0.000006467Direct
PreATP-grasp domain0.000007044Direct
Single hybrid motif0.000007044Direct
Thiamin diphosphate-binding fold (THDP-binding)0.00001837Direct
Nucleotidylyl transferase0.00002616Direct
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.00005101Direct
ClpP/crotonase0.0002284Direct
4Fe-4S ferredoxins0.0003788Direct
Terpenoid synthases0.0003788Direct
Rudiment single hybrid motif0.0003788Direct
Adenine nucleotide alpha hydrolases-like0.0005172Direct
Mitochondrial carrier0.00393Inherited
Translation proteins0.009669Inherited
Acyl-CoA dehydrogenase C-terminal domain-like0.009841Inherited
Acyl-CoA dehydrogenase NM domain-like0.009841Inherited
Voltage-gated potassium channels0.3285Inherited
E set domains0.5198Inherited

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Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
47005,52777
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    51230,47005
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 0Direct
    52374,47323
  • 52374 - Nucleotidylyl transferase
  • 47323 - Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases
  • 0.0000002447Direct
    52440,56059
  • 52440 - PreATP-grasp domain
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 0.00006381Direct
    56059,51246
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0.0003788Direct
    81324,81296
  • 81324 - Voltage-gated potassium channels
  • 81296 - E set domains
  • 0.007427Inherited
    56645,47203
  • 56645 - Acyl-CoA dehydrogenase NM domain-like
  • 47203 - Acyl-CoA dehydrogenase C-terminal domain-like
  • 0.009841Inherited

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    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    51230,47005,52777
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    52440,56059,51246
  • 52440 - PreATP-grasp domain
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0.0003788Direct


    Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
    Plot tree as:   Download Newick format tree:
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