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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] <15>(73|82) (83|38|18)
0:   Abnormal circulating metabolite concentration [HP:0032180] <12>(29|30) (33|14|5)
- 1:   Abnormal circulating protein level [HP:0010876] <39>(3|8) (5|5|2)
- 1:   Abnormal circulating carbohydrate concentration [HP:0011013] <11>(0|0) (0|0|0)
- 1:   Abnormal circulating nitrogen compound concentration [HP:0004364] <10>(4|3) (4|1|0)
- 1:   Abnormal circulating carboxylic acid concentration [HP:0004354] <6>(9|7) (11|4|1)
- 1:   Abnormal circulating lipid concentration [HP:0003119] <6>(6|5) (6|2|0)
- 1:   Hyperbilirubinemia [HP:0002904] <5>(1|0) (1|0|0)
- 1:   Abnormal blood ion concentration [HP:0003111] <3>(6|7) (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)
Aminomethyltransferase beta-barrel domain0Direct
Ferritin-like0Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
Cation efflux protein transmembrane domain-like0Direct
Apolipoprotein A-I0Direct
Clc chloride channel0.007831Inherited
CBS-domain pair0.01878Inherited
Rudiment single hybrid motif0.01979Inherited
alpha/beta-Hydrolases0.02282Inherited
PLP-dependent transferases0.02386Inherited
Single hybrid motif0.03198Inherited
Glutathione synthetase ATP-binding domain-like0.03198Inherited
PreATP-grasp domain0.05368Inherited
Cytochrome P4500.08689Inherited
Formate/glycerate dehydrogenase catalytic domain-like0.08883Inherited
Tropomyosin0.08883Inherited
Mitochondrial carrier0.1209Inherited
Folate-binding domain0.1462Inherited
Acyl-CoA dehydrogenase NM domain-like0.1986Inherited
Acyl-CoA dehydrogenase C-terminal domain-like0.1986Inherited
MFS general substrate transporter0.2036Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.2061Inherited
MHC antigen-recognition domain0.3366Inherited
Thiamin diphosphate-binding fold (THDP-binding)0.4568Inherited
E set domains0.4738Inherited
Voltage-gated potassium channels0.68Inherited
ClpP/crotonase0.7029Inherited
RING/U-box0.8815Inherited
DEATH domain0.9463Inherited


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Family

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SCOP termFDR (all)Annotation (direct or inherited)
Apolipoprotein A-I0Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
Proteasome subunits0Direct
Cation efflux protein transmembrane domain-like0Direct
Aminomethyltransferase beta-barrel domain0Direct
Cystathionine synthase-like0Direct
BC N-terminal domain-like0.001309Inherited
BC ATP-binding domain-like0.001309Inherited
Inositol polyphosphate 5-phosphatase (IPP5)0.004466Inherited
Clc chloride channel0.00548Inherited
BC C-terminal domain-like0.01438Inherited
Pancreatic lipase, N-terminal domain0.01438Inherited
CBS-domain pair0.02345Inherited
Biotinyl/lipoyl-carrier proteins and domains0.02345Inherited
Cytoplasmic domain of inward rectifier potassium channel0.02681Inherited
Tropomyosin0.07209Inherited
FAD/NAD-linked reductases, N-terminal and central domains0.07209Inherited
Cytochrome P4500.1006Inherited
Mitochondrial carrier0.1006Inherited
Calponin-homology domain, CH-domain0.1222Inherited
FAD-linked reductases, N-terminal domain0.1224Inherited
Aminomethyltransferase folate-binding domain0.1224Inherited
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains0.148Inherited
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain0.148Inherited
LIM domain0.148Inherited
28-residue LRR0.3026Inherited
MHC antigen-recognition domain0.3026Inherited
Canonical RBD0.321Inherited
Voltage-gated potassium channels0.7256Inherited
G proteins0.8636Inherited


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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)
Apolipoprotein A-I0Direct
Cation efflux protein transmembrane domain-like0Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
Aminomethyltransferase beta-barrel domain0Direct
Ferritin-like0Direct
Clc chloride channel0.005057Inherited
CBS-domain pair0.01287Inherited
Rudiment single hybrid motif0.01362Inherited
alpha/beta-Hydrolases0.01587Inherited
PLP-dependent transferases0.0167Inherited
Glutathione synthetase ATP-binding domain-like0.02297Inherited
Single hybrid motif0.02297Inherited
PreATP-grasp domain0.04026Inherited
FAD/NAD(P)-binding domain0.05575Inherited
Cytochrome P4500.068Inherited
Formate/glycerate dehydrogenase catalytic domain-like0.06964Inherited
Tropomyosin0.06964Inherited
Mitochondrial carrier0.09714Inherited
Calponin-homology domain, CH-domain0.1185Inherited
Folate-binding domain0.1198Inherited
Acyl-CoA dehydrogenase NM domain-like0.1667Inherited
Acyl-CoA dehydrogenase C-terminal domain-like0.1667Inherited
FAD-linked reductases, C-terminal domain0.1711Inherited
MFS general substrate transporter0.1713Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.1737Inherited
MHC antigen-recognition domain0.297Inherited
RNA-binding domain, RBD0.4059Inherited
Thiamin diphosphate-binding fold (THDP-binding)0.4142Inherited
E set domains0.4313Inherited
Voltage-gated potassium channels0.6412Inherited
ClpP/crotonase0.6646Inherited
RING/U-box0.8517Inherited
DEATH domain0.9203Inherited

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Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
52540,90123
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 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
    53474,49723
  • 53474 - alpha/beta-Hydrolases
  • 49723 - Lipase/lipooxygenase domain (PLAT/LH2 domain)
  • 0Direct
    52440,56059
  • 52440 - PreATP-grasp domain
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 0.005057Inherited
    46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.007129Inherited
    56059,51246
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0.01362Inherited
    81324,81296
  • 81324 - Voltage-gated potassium channels
  • 81296 - E set domains
  • 0.02513Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.0395Inherited
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 0.04026Inherited
    47986,52540
  • 47986 - DEATH domain
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.1198Inherited
    51905,54373
  • 51905 - FAD/NAD(P)-binding domain
  • 54373 - FAD-linked reductases, C-terminal domain
  • 0.1211Inherited
    56645,47203
  • 56645 - Acyl-CoA dehydrogenase NM domain-like
  • 47203 - Acyl-CoA dehydrogenase C-terminal domain-like
  • 0.1667Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.297Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    52540,90123,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0Direct
    90123,52540,90123
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 0Direct
    46966,46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.007129Inherited
    52440,56059,51246
  • 52440 - PreATP-grasp domain
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0.01362Inherited
    57716,57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.02297Inherited


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