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Phenotypic Abnormality (PA): Abnormal circulating metabolite concentration

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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)
+ + 2:   Phenotypic abnormality [HP:0000118] <25>
+ 1:   Abnormality of metabolism/homeostasis [HP:0001939] <16>(75|82) (79|40|16)
0:   Abnormal circulating metabolite concentration [HP:0032180] <12>(30|31) (31|14|4)
- 1:   Abnormal circulating protein level [HP:0010876] <41>(3|9) (4|5|2)
- 1:   Abnormal circulating carbohydrate concentration [HP:0011013] <11>(0|0) (0|0|0)
- 1:   Abnormal circulating nitrogen compound concentration [HP:0004364] <10>(7|7) (7|3|1)
- 1:   Abnormal circulating carboxylic acid concentration [HP:0004354] <6>(9|7) (9|4|1)
- 1:   Abnormal circulating lipid concentration [HP:0003119] <6>(6|5) (6|2|1)
- 1:   Hyperbilirubinemia [HP:0002904] <5>(1|0) (1|0|0)
- 1:   Abnormal blood ion concentration [HP:0003111] <3>(6|6) (6|1|0)
- 1:   Abnormal circulating amino sulfonic acid concentration [HP:0500180] <2>(0|0) (0|0|0)
- 1:   Abnormal circulating porphyrin concentration [HP:0010472] <1>(0|0) (0|0|0)
- 1:   Abnormal circulating creatine concentration [HP:0012113](0|0) (0|0|0)
- 1:   Abnormal circulating selenium concentration [HP:0031903](0|0) (0|0|0)
- 1:   Increased level of propylene glycol in blood [HP:0410069](0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
Ferritin-like0Direct
Aminomethyltransferase beta-barrel domain0Direct
Apolipoprotein A-I0Direct
PLP-dependent transferases0.007261Inherited
Clc chloride channel0.009306Inherited
CBS-domain pair0.02213Inherited
Single hybrid motif0.02213Inherited
Rudiment single hybrid motif0.02218Inherited
alpha/beta-Hydrolases0.03751Inherited
Glutathione synthetase ATP-binding domain-like0.04937Inherited
PreATP-grasp domain0.05997Inherited
Tropomyosin0.09726Inherited
Formate/glycerate dehydrogenase catalytic domain-like0.09726Inherited
MHC antigen-recognition domain0.102Inherited
Mitochondrial carrier0.1179Inherited
Cytochrome P4500.1556Inherited
Folate-binding domain0.157Inherited
Cation efflux protein transmembrane domain-like0.157Inherited
Acyl-CoA dehydrogenase C-terminal domain-like0.2194Inherited
Acyl-CoA dehydrogenase NM domain-like0.2194Inherited
Complement control module/SCR domain0.2198Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.2222Inherited
MFS general substrate transporter0.2998Inherited
Voltage-gated potassium channels0.3543Inherited
E set domains0.3834Inherited
Thiamin diphosphate-binding fold (THDP-binding)0.4793Inherited
ClpP/crotonase0.7278Inherited
RING/U-box0.873Inherited
DEATH domain0.916Inherited


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Family

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SCOP termFDR (all)Annotation (direct or inherited)
Proteasome subunits0Direct
Apolipoprotein A-I0Direct
Cystathionine synthase-like0Direct
CAT-like0Direct
Aminomethyltransferase beta-barrel domain0Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
BC N-terminal domain-like0.001603Inherited
BC ATP-binding domain-like0.001603Inherited
Inositol polyphosphate 5-phosphatase (IPP5)0.005275Inherited
Cytoplasmic domain of inward rectifier potassium channel0.006405Inherited
Clc chloride channel0.00662Inherited
Biotinyl/lipoyl-carrier proteins and domains0.01567Inherited
Pancreatic lipase, N-terminal domain0.01646Inherited
BC C-terminal domain-like0.01646Inherited
CBS-domain pair0.02701Inherited
Tropomyosin0.07861Inherited
FAD/NAD-linked reductases, N-terminal and central domains0.07861Inherited
MHC antigen-recognition domain0.08271Inherited
Mitochondrial carrier0.09647Inherited
Cation efflux protein transmembrane domain-like0.1304Inherited
FAD-linked reductases, N-terminal domain0.1304Inherited
Aminomethyltransferase folate-binding domain0.1304Inherited
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain0.1616Inherited
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains0.1616Inherited
LIM domain0.1616Inherited
Cytochrome P4500.1734Inherited
Eukaryotic proteases0.1786Inherited
Complement control module/SCR domain0.2Inherited
28-residue LRR0.322Inherited
Voltage-gated potassium channels0.4042Inherited
Canonical RBD0.5372Inherited


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)
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
Ferritin-like0Direct
Apolipoprotein A-I0Direct
Aminomethyltransferase beta-barrel domain0Direct
PLP-dependent transferases0.004558Inherited
Clc chloride channel0.005957Inherited
CBS-domain pair0.01521Inherited
Single hybrid motif0.01521Inherited
Rudiment single hybrid motif0.01524Inherited
alpha/beta-Hydrolases0.02686Inherited
Glutathione synthetase ATP-binding domain-like0.03634Inherited
PreATP-grasp domain0.04499Inherited
Tropomyosin0.07617Inherited
Formate/glycerate dehydrogenase catalytic domain-like0.07617Inherited
MHC antigen-recognition domain0.08023Inherited
Mitochondrial carrier0.09379Inherited
Cytochrome P4500.1273Inherited
Folate-binding domain0.1285Inherited
Cation efflux protein transmembrane domain-like0.1285Inherited
Acyl-CoA dehydrogenase NM domain-like0.1851Inherited
Acyl-CoA dehydrogenase C-terminal domain-like0.1851Inherited
Complement control module/SCR domain0.1855Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.1877Inherited
MFS general substrate transporter0.2599Inherited
Voltage-gated potassium channels0.3123Inherited
E set domains0.3403Inherited
RNI-like0.3577Inherited
Thiamin diphosphate-binding fold (THDP-binding)0.4355Inherited
ClpP/crotonase0.6895Inherited
RING/U-box0.8418Inherited
DEATH domain0.8879Inherited

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Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
53474,49723
  • 53474 - alpha/beta-Hydrolases
  • 49723 - Lipase/lipooxygenase domain (PLAT/LH2 domain)
  • 0Direct
    103025,101790
  • 103025 - Folate-binding domain
  • 101790 - Aminomethyltransferase beta-barrel domain
  • 0Direct
    51905,55424
  • 51905 - FAD/NAD(P)-binding domain
  • 55424 - FAD/NAD-linked reductases, dimerisation (C-terminal) domain
  • 0Direct
    46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.004781Inherited
    81324,81296
  • 81324 - Voltage-gated potassium channels
  • 81296 - E set domains
  • 0.005687Inherited
    52440,56059
  • 52440 - PreATP-grasp domain
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 0.01486Inherited
    56059,51246
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0.01524Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.04335Inherited
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 0.04499Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.08023Inherited
    57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.1095Inherited
    47986,52540
  • 47986 - DEATH domain
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.1285Inherited
    56645,47203
  • 56645 - Acyl-CoA dehydrogenase NM domain-like
  • 47203 - Acyl-CoA dehydrogenase C-terminal domain-like
  • 0.1851Inherited
    51905,54373
  • 51905 - FAD/NAD(P)-binding domain
  • 54373 - FAD-linked reductases, C-terminal domain
  • 0.2801Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    46966,46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.008615Inherited
    52440,56059,51246
  • 52440 - PreATP-grasp domain
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0.01524Inherited
    57716,57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.02627Inherited
    57535,57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.08023Inherited


    Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
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